{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T07:06:31Z","timestamp":1783062391664,"version":"3.54.6"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100002380","name":"Hanyang University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002380","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002701","name":"Ministry of Education","doi-asserted-by":"publisher","award":["NRF-2021R1A6A1A03038899"],"award-info":[{"award-number":["NRF-2021R1A6A1A03038899"]}],"id":[{"id":"10.13039\/501100002701","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["3000-3031"],"award-info":[{"award-number":["3000-3031"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["4845-301"],"award-info":[{"award-number":["4845-301"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["350"],"award-info":[{"award-number":["350"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,3,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Osteonecrosis of the femoral head (ONFH) involves necrosis of bone and bone marrow of the femoral head caused by ischemia with unknown etiology. Previous genetic studies on ONFH failed to produce consistent results, presumably because ONFH has various causes with different genetic backgrounds and the underlying diseases confounded the associations. Steroid-associated ONFH (S-ONFH) accounts for one-half of all ONFH, and systemic lupus erythematosus (SLE) is a representative disease underlying S-ONFH. We performed a genome-wide association study (GWAS) to identify genetic risk factors for S-ONFH in patients with SLE. We conducted a two-staged GWAS on 636 SLE patients with S-ONFH and 95\u2009588 non-SLE controls. Among the novel loci identified, we determined S-ONFH-specific loci by comparing allele frequencies between SLE patients without S-ONFH and non-SLE controls. We also used Korean datasets comprising 148\u00a0S-ONFH cases and 37\u2009015 controls to assess overall significance. We evaluated the functional annotations of significant variants by in silico analyses. The Japanese GWAS identified 4 significant loci together with 12 known SLE susceptibility loci. The four significant variants showed comparable effect sizes on S-ONFH compared with SLE controls and non-SLE controls. Three of the four loci, MIR4293\/MIR1265 [odds ratio (OR)\u2009=\u20091.99, P-value\u2009=\u20091.1\u2009\u00d7\u200910\u22129)], TRIM49\/NAALAD2 (OR\u2009=\u20091.65, P-value\u2009=\u20094.8\u2009\u00d7\u200910\u22128) and MYO16 (OR\u2009=\u20093.91, P-value\u2009=\u20094.9\u2009\u00d7\u200910\u221210), showed significant associations in the meta-analysis with Korean datasets. Bioinformatics analyses identified MIR4293, NAALAD2 and MYO16 as candidate causal genes. MIR4293 regulates a PPARG-related adipogenesis pathway relevant to S-ONFH. We identified three novel susceptibility loci for S-ONFH in SLE.<\/jats:p>","DOI":"10.1093\/hmg\/ddab306","type":"journal-article","created":{"date-parts":[[2021,10,29]],"date-time":"2021-10-29T11:08:16Z","timestamp":1635505696000},"page":"1082-1095","source":"Crossref","is-referenced-by-count":11,"title":["Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus"],"prefix":"10.1093","volume":"31","author":[{"given":"Hiroyuki","family":"Suetsugu","sequence":"first","affiliation":[{"name":"Laboratory for Bone and Joint Diseases, RIKEN Center for Medical Sciences, Tokyo 108-8639, Japan"},{"name":"Laboratory for Statistical and Translational Genetics Analysis, RIKEN Center for Integrative Medical Sciences, Kanagawa 230-0045, Japan"},{"name":"Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwangwoo","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Biology, Kyung Hee University, Seoul 02447, Republic of Korea"},{"name":"Department of Biomedical and Pharmaceutical Sciences, Kyung Hee University, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takuaki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Faculty of Medicine, Fukuoka University, Fukuoka 814-0180, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"So-Young","family":"Bang","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 04763, Korea"},{"name":"Hanyang University Institute for Rheumatology Research, Seoul 04763, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuma","family":"Sakamoto","sequence":"additional","affiliation":[{"name":"Koga Hospital 21, Fukuoka 839-0801, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung-Min","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 04763, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiko","family":"Sugano","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Medical Engineering, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji Soong","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 04763, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaya","family":"Mukai","sequence":"additional","affiliation":[{"name":"Department of Rheumatology & Clinical Immunology, Sapporo City General Hospital, Hokkaido 060-8604, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yeon-Kyung","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 04763, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichiro","family":"Ohmura","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dae Jin","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 04763, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Hokkaido 060-8638, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ga-Young","family":"Ahn","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 04763, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kohei","family":"Karino","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Hokkaido 060-8638, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young-Chang","family":"Kwon","sequence":"additional","affiliation":[{"name":"Hanyang University Institute for Rheumatology Research, Seoul 04763, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoya","family":"Miyamura","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Rheumatology, National Hospital Organization Kyushu Medical Center, Fukuoka 810-8563, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jihye","family":"Kim","sequence":"additional","affiliation":[{"name":"Hanyang University Institute for Rheumatology Research, Seoul 04763, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junichi","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Graduate School of Medicine, Chiba University, Chiba 260-8677, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Goro","family":"Motomura","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Kuroda","sequence":"additional","affiliation":[{"name":"Niigata University Health Administration Center, Niigata 950-2181, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Niiro","sequence":"additional","affiliation":[{"name":"Department of Medical Education, Kyushu University Graduate School of Medical Sciences, Fukuoka 812-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Miyamoto","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Faculty of Life Sciences, Kumamoto University, Kumamoto 860-8556, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Takeuchi","sequence":"additional","affiliation":[{"name":"Division of Rheumatology, Department of Internal Medicine, Keio University School of Medicine, Tokyo 160-8582, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsunori","family":"Ikari","sequence":"additional","affiliation":[{"name":"Institute of Rheumatology, Tokyo Women\u2019s Medical University, Tokyo 162-8666, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Amano","sequence":"additional","affiliation":[{"name":"Department of Rheumatology & Clinical Immunology, Saitama Medical Center, Saitama Medical University, Saitama 350-8550, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshifumi","family":"Tada","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Faculty of Medicine, Saga University, Saga 849-8501, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Yamaji","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine and Rheumatology, Juntendo University School of Medicine, Tokyo 113-8421, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masato","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Hokkaido Medical Center for Rheumatic Diseases, Hokkaido 063-0811, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Atsumi","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Showa University School of Medicine, Tokyo 142-8555, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taisuke","family":"Seki","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiya","family":"Tanaka","sequence":"additional","affiliation":[{"name":"The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Fukuoka 807-8555, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshikazu","family":"Kubo","sequence":"additional","affiliation":[{"name":"Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryo","family":"Hisada","sequence":"additional","affiliation":[{"name":"Obihiro Kosei Hospital, Hokkaido 080-0024, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomokazu","family":"Yoshioka","sequence":"additional","affiliation":[{"name":"Division of Regenerative Medicine for Musculoskeletal System, Faculty of Medicine, University of Tsukuba, Ibaraki 305-8575, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihoko","family":"Yamazaki","sequence":"additional","affiliation":[{"name":"Kido Hospital, Niigata 950-0862, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamon","family":"Kabata","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Graduate School of Medical Science, Kanazawa University, Kanazawa 920-8641, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomomichi","family":"Kajino","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Tonan Hospital, Hokkaido 060-0004, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichi","family":"Ohta","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Osaka City University Graduate School of Medicine, Osaka 545-8585, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro","family":"Okawa","sequence":"additional","affiliation":[{"name":"Orthopedis and Joint Surgery Center, Kurume University Medical Center, Fukuoka 839-0863, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yohei","family":"Naito","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Mie University Graduate School of Medicine, Mie 514-8507, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayumi","family":"Kaneuji","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Kanazawa Medical University, Ishikawa 920-0293, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Yasunaga","sequence":"additional","affiliation":[{"name":"Hiroshima Prefectural Rehabilitation Center, Hiroshima 739-0036, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Ohzono","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Amagasaki Chuo Hospital, Hyogo 661-0976, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kohei","family":"Tomizuka","sequence":"additional","affiliation":[{"name":"Laboratory for Statistical and Translational Genetics Analysis, RIKEN Center for Integrative Medical Sciences, Kanagawa 230-0045, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0348-0666","authenticated-orcid":false,"given":"Masaru","family":"Koido","sequence":"additional","affiliation":[{"name":"Laboratory for Statistical and Translational Genetics Analysis, RIKEN Center for Integrative Medical Sciences, Kanagawa 230-0045, Japan"},{"name":"Division of Molecular Pathology, Department of Cancer Biology, Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichi","family":"Matsuda","sequence":"additional","affiliation":[{"name":"Laboratory of Genome Technology, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo 108-8639, Japan"},{"name":"Laboratory of Clinical Genome Sequencing, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo 108-8639, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0311-8472","authenticated-orcid":false,"given":"Yukinori","family":"Okada","sequence":"additional","affiliation":[{"name":"44Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka 565-0871, Japan"},{"name":"Laboratory of Statistical Immunology, Immunology Frontier Research Center (WPi-iFReC), Osaka University, Osaka 565-0871, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akari","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Laboratory for Autoimmune Diseases, RIKEN Center for Integrative Medical Sciences, Kanagawa 230-0045, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bong-Jo","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Genome Research, Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Cheongju 28159, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuta","family":"Kochi","sequence":"additional","affiliation":[{"name":"Department of Genomic Function and Diversity, Medical Research Institute, Tokyo Medical and Dental University, Tokyo 113-8510, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye-Soon","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 04763, Korea"},{"name":"Hanyang University Institute for Rheumatology Research, Seoul 04763, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[{"name":"Laboratory for Bone and Joint Diseases, RIKEN Center for Medical Sciences, Tokyo 108-8639, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sang-Cheol","family":"Bae","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 04763, Korea"},{"name":"Hanyang University Institute for Rheumatology Research, Seoul 04763, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6452-4095","authenticated-orcid":false,"given":"Chikashi","family":"Terao","sequence":"additional","affiliation":[{"name":"Laboratory for Statistical and Translational Genetics Analysis, RIKEN Center for Integrative Medical Sciences, Kanagawa 230-0045, Japan"},{"name":"Clinical Research Center, Shizuoka General Hospital, Shizuoka 420-8630, Japan"},{"name":"The Department of Applied Genetics, The School of Pharmaceutical Sciences, University of Shizuoka, Shizuoka 422-8526, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,12,1]]},"reference":[{"key":"2022040211405171300_ref1","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1056\/NEJM199205283262206","article-title":"Nontraumatic necrosis of bone (osteonecrosis)","volume":"326","author":"Mankin","year":"1992","journal-title":"N. Engl. J. Med."},{"key":"2022040211405171300_ref2","doi-asserted-by":"crossref","first-page":"2715","DOI":"10.1007\/s11999-010-1292-x","article-title":"Nationwide epidemiologic survey of idiopathic osteonecrosis of the femoral head","volume":"468","author":"Fukushima","year":"2010","journal-title":"Clin. Orthop. Relat. Res."},{"key":"2022040211405171300_ref3","doi-asserted-by":"crossref","first-page":"3169","DOI":"10.1002\/art.30484","article-title":"Incidence of nontraumatic osteonecrosis of the femoral head in the Japanese population","volume":"63","author":"Yamaguchi","year":"2011","journal-title":"Arthritis Rheum."},{"key":"2022040211405171300_ref4","doi-asserted-by":"crossref","first-page":"459","DOI":"10.2106\/00004623-199503000-00018","article-title":"Non-traumatic avascular necrosis of the femoral head","volume":"77","author":"Mont","year":"1995","journal-title":"J. Bone Joint Surg. Am."},{"key":"2022040211405171300_ref5","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1191\/0961203305lu2103oa","article-title":"Very early development of steroid-associated osteonecrosis of femoral head in systemic lupus erythematosus: prospective study by MRI","volume":"14","author":"Nagasawa","year":"2005","journal-title":"Lupus"},{"key":"2022040211405171300_ref6","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1136\/ard.60.12.1145","article-title":"Osteonecrosis in patients with systemic lupus erythematosus develops very early after starting high dose corticosteroid treatment","volume":"60","author":"Oinuma","year":"2001","journal-title":"Ann. Rheum. Dis."},{"key":"2022040211405171300_ref7","doi-asserted-by":"crossref","first-page":"2843","DOI":"10.4103\/0366-6999.168017","article-title":"Prevalence of nontraumatic osteonecrosis of the femoral head and its associated risk factors in the Chinese population: results from a nationally representative survey","volume":"128","author":"Zhao","year":"2015","journal-title":"Chin. Med. J."},{"key":"2022040211405171300_ref8","doi-asserted-by":"crossref","first-page":"2294","DOI":"10.1056\/NEJMoa042480","article-title":"Type II collagen gene variants and inherited osteonecrosis of the femoral head","volume":"352","author":"Liu","year":"2005","journal-title":"N. Engl. J. Med."},{"key":"2022040211405171300_ref9","doi-asserted-by":"crossref","first-page":"7145","DOI":"10.3892\/mmr.2017.7473","article-title":"Association of SREBP2 gene polymorphisms with the risk of osteonecrosis of the femoral head relates to gene expression and lipid metabolism disorders","volume":"16","author":"Song","year":"2017","journal-title":"Mol. Med. Rep."},{"key":"2022040211405171300_ref10","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1186\/s13018-020-1557-3","article-title":"Variants in RETN gene are associated with steroid-induced osteonecrosis of the femoral head risk among Han Chinese people","volume":"15","author":"An","year":"2020","journal-title":"J. Orthop. Surg. Res."},{"key":"2022040211405171300_ref11","doi-asserted-by":"crossref","first-page":"4434","DOI":"10.3892\/mmr.2015.4000","article-title":"Genetic variation in the coagulation factor V gene and risk of femoral head osteonecrosis","volume":"12","author":"Kim","year":"2015","journal-title":"Mol. Med. Rep."},{"key":"2022040211405171300_ref12","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1080\/21691401.2019.1593995","article-title":"Association between NOS3 polymorphisms and osteonecrosis of the femoral head","volume":"47","author":"Zhao","year":"2019","journal-title":"Artif Cells Nanomed Biotechnol"},{"key":"2022040211405171300_ref13","doi-asserted-by":"crossref","first-page":"16221","DOI":"10.1038\/s41598-018-34352-4","article-title":"Relationship of common variants in VEGFA gene with osteonecrosis of the femoral head: a Han Chinese population based association study","volume":"8","author":"Ma","year":"2018","journal-title":"Sci. Rep."},{"key":"2022040211405171300_ref14","doi-asserted-by":"crossref","first-page":"1770","DOI":"10.1182\/blood-2015-05-643601","article-title":"Genetics of glucocorticoid-associated osteonecrosis in children with acute lymphoblastic leukemia","volume":"126","author":"Karol","year":"2015","journal-title":"Blood"},{"key":"2022040211405171300_ref15","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1182\/blood-2015-10-673848","article-title":"Genetic risk factors for the development of osteonecrosis in children under age 10 treated for acute lymphoblastic leukemia","volume":"127","author":"Karol","year":"2016","journal-title":"Blood"},{"key":"2022040211405171300_ref16","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.2106\/JBJS.19.01335","article-title":"PPARGC1B is associated with nontraumatic osteonecrosis of the femoral head: a genomewide association study on a chart-reviewed cohort","volume":"102","author":"Zhang","year":"2020","journal-title":"J. Bone Joint Surg. Am."},{"key":"2022040211405171300_ref17","doi-asserted-by":"crossref","first-page":"15035","DOI":"10.1038\/s41598-017-14778-y","article-title":"Genome-wide association study of idiopathic osteonecrosis of the femoral head","volume":"7","author":"Sakamoto","year":"2017","journal-title":"Sci. Rep."},{"key":"2022040211405171300_ref18","doi-asserted-by":"crossref","first-page":"S9","DOI":"10.1016\/j.je.2016.12.003","article-title":"Cross-sectional analysis of BioBank Japan clinical data: a large cohort of 200,000 patients with 47 common diseases","volume":"27","author":"Hirata","year":"2017","journal-title":"J. Epidemiol."},{"key":"2022040211405171300_ref19","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1016\/j.je.2016.12.005","article-title":"Overview of the BioBank Japan Project: study design and profile","volume":"27","author":"Nagai","year":"2017","journal-title":"J. Epidemiol."},{"key":"2022040211405171300_ref20","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1002\/art.1780251101","article-title":"The 1982 revised criteria for the classification of systemic lupus erythematosus","volume":"25","author":"Tan","year":"1982","journal-title":"Arthritis Rheum."},{"key":"2022040211405171300_ref21","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1002\/art.1780400928","article-title":"Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus","volume":"40","author":"Hochberg","year":"1997","journal-title":"Arthritis Rheum."},{"key":"2022040211405171300_ref22","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1038\/ng.3211","article-title":"LD Score regression distinguishes confounding from polygenicity in genome-wide association studies","volume":"47","author":"Bulik-Sullivan","year":"2015","journal-title":"Nat. Genet."},{"key":"2022040211405171300_ref23","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1136\/annrheumdis-2020-219209","article-title":"Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus","volume":"80","author":"Yin","year":"2021","journal-title":"Ann. Rheum. Dis."},{"key":"2022040211405171300_ref24","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1136\/annrheumdis-2020-217663","article-title":"Genome-wide association study in a Korean population identifies six novel susceptibility loci for rheumatoid arthritis","volume":"79","author":"Kwon","year":"2020","journal-title":"Ann. Rheum. Dis."},{"key":"2022040211405171300_ref25","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1093\/bioinformatics\/btw018","article-title":"FINEMAP: efficient variable selection using summary data from genome-wide association studies","volume":"32","author":"Benner","year":"2016","journal-title":"Bioinformatics"},{"key":"2022040211405171300_ref26","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1126\/science.aaz1776","article-title":"The GTEx Consortium atlas of genetic regulatory effects across human tissues","volume":"369","author":"GTEx Consortium","year":"2020","journal-title":"Science (New York, N.Y.)"},{"key":"2022040211405171300_ref27","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.cell.2018.03.006","article-title":"Metazoan MicroRNAs","volume":"173","author":"Bartel","year":"2018","journal-title":"Cell"},{"key":"2022040211405171300_ref28","doi-asserted-by":"crossref","first-page":"D127","DOI":"10.1093\/nar\/gkz757","article-title":"miRDB: an online database for prediction of functional microRNA targets","volume":"48","author":"Chen","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"2022040211405171300_ref29","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1038\/s41467-017-01261-5","article-title":"Functional mapping and annotation of genetic associations with FUMA","volume":"8","author":"Watanabe","year":"2017","journal-title":"Nat. Commun."},{"key":"2022040211405171300_ref30","doi-asserted-by":"crossref","first-page":"1800","DOI":"10.1097\/CORR.0000000000000713","article-title":"CORR\u00ae ORS Richard A. Brand award: disruption in peroxisome proliferator-activated receptor-\u03b3 (PPARG) increases osteonecrosis risk through genetic variance and pharmacologic modulation","volume":"477","author":"Wyles","year":"2019","journal-title":"Clin. Orthop. Relat. Res."},{"key":"2022040211405171300_ref31","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/S8756-3282(01)00663-9","article-title":"Bone marrow fat cell enlargement and a rise in intraosseous pressure in steroid-treated rabbits with osteonecrosis","volume":"30","author":"Miyanishi","year":"2002","journal-title":"Bone"},{"key":"2022040211405171300_ref32","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1038\/ng.3954","article-title":"Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection","volume":"49","author":"Gazal","year":"2017","journal-title":"Nat. Genet."},{"key":"2022040211405171300_ref33","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1136\/annrheumdis-2018-214116","article-title":"PLD4 is a genetic determinant to systemic lupus erythematosus and involved in murine autoimmune phenotypes","volume":"78","author":"Akizuki","year":"2019","journal-title":"Ann. Rheum. Dis."},{"key":"2022040211405171300_ref34","doi-asserted-by":"crossref","first-page":"4719","DOI":"10.1038\/s41467-019-12705-5","article-title":"GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation","volume":"10","author":"Terao","year":"2019","journal-title":"Nat. Commun."},{"key":"2022040211405171300_ref35","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1038\/s41588-020-0640-3","article-title":"Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases","volume":"52","author":"Ishigaki","year":"2020","journal-title":"Nat. Genet."},{"key":"2022040211405171300_ref36","first-page":"353","article-title":"Distribution of lesions in the head and neck of the humerus and the femur in dysbaric osteonecrosis","volume":"17","author":"Zhang","year":"1990","journal-title":"Undersea Biomed. Res."},{"key":"2022040211405171300_ref37","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1182\/hematology.2019000038","article-title":"Osteonecrosis in sickle cell disease: an update on risk factors, diagnosis, and management","volume":"2019","author":"Adesina","year":"2019","journal-title":"Hematology Am. Soc. Hematol. Educ. Program"},{"key":"2022040211405171300_ref38","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1001\/jama.1960.03030080028005","article-title":"Avascular (aseptic) bone necrosis associated with systemic lupus erythematosus","volume":"174","author":"Dubois","year":"1960","journal-title":"JAMA"},{"key":"2022040211405171300_ref39","doi-asserted-by":"crossref","first-page":"108709","DOI":"10.1016\/j.steroids.2020.108709","article-title":"MicroRNA-23b-3p participates in steroid-induced osteonecrosis of the femoral head by suppressing ZNF667 expression","volume":"163","author":"Liu","year":"2020","journal-title":"Steroids"},{"key":"2022040211405171300_ref40","first-page":"9761","article-title":"MiR-15b ameliorates SONFH by targeting Smad7 and inhibiting osteogenic differentiation of BMSCs","volume":"23","author":"Fang","year":"2019","journal-title":"Eur. Rev. Med. Pharmacol. Sci."},{"key":"2022040211405171300_ref41","doi-asserted-by":"crossref","first-page":"18435","DOI":"10.1002\/jcb.29161","article-title":"The role of lncRNA RP11-154D6 in steroid-induced osteonecrosis of the femoral head through BMSC regulation","volume":"120","author":"Xiang","year":"2019","journal-title":"J. Cell. Biochem."},{"key":"2022040211405171300_ref42","doi-asserted-by":"crossref","first-page":"e1002067","DOI":"10.1371\/journal.pgen.1002067","article-title":"Identification of nine novel loci associated with white blood cell subtypes in a Japanese population","volume":"7","author":"Okada","year":"2011","journal-title":"PLoS Genet."},{"key":"2022040211405171300_ref43","doi-asserted-by":"crossref","first-page":"e0123106","DOI":"10.1371\/journal.pone.0123106","article-title":"Autism and intellectual disability-associated KIRREL3 interacts with neuronal proteins MAP1B and MYO16 with potential roles in neurodevelopment","volume":"10","author":"Liu","year":"2015","journal-title":"PLoS One"},{"key":"2022040211405171300_ref44","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"2022040211405171300_ref45","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1038\/ng.3656","article-title":"Next-generation genotype imputation service and methods","volume":"48","author":"Das","year":"2016","journal-title":"Nat. Genet."},{"key":"2022040211405171300_ref46","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13742-015-0047-8","article-title":"Second-generation PLINK: rising to the challenge of larger and richer datasets","volume":"4","author":"Chang","year":"2015","journal-title":"Gigascience"},{"key":"2022040211405171300_ref47","doi-asserted-by":"crossref","first-page":"2190","DOI":"10.1093\/bioinformatics\/btq340","article-title":"METAL: fast and efficient meta-analysis of genomewide association scans","volume":"26","author":"Willer","year":"2010","journal-title":"Bioinformatics"},{"key":"2022040211405171300_ref48","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/ng.2213","article-title":"Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits","volume":"44","author":"Yang","year":"2012","journal-title":"Nat. Genet."},{"key":"2022040211405171300_ref49","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/nature09298","article-title":"Integrating common and rare genetic variation in diverse human populations","volume":"467","author":"Altshuler","year":"2010","journal-title":"Nature"},{"key":"2022040211405171300_ref50","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1038\/s41588-018-0184-y","article-title":"Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies","volume":"50","author":"Zhou","year":"2018","journal-title":"Nat. Genet."},{"key":"2022040211405171300_ref51","doi-asserted-by":"crossref","first-page":"187","DOI":"10.3389\/fgene.2014.00187","article-title":"Firth logistic regression for rare variant association tests","volume":"5","author":"Wang","year":"2014","journal-title":"Front. Genet."},{"key":"2022040211405171300_ref52","article-title":"Efficient and parallelizable association container toolbox (EPACTS)","author":"Kang"},{"key":"2022040211405171300_ref53","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"2022040211405171300_ref54","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1038\/s41588-019-0404-0","article-title":"Abundant associations with gene expression complicate GWAS follow-up","volume":"51","author":"Liu","year":"2019","journal-title":"Nat. Genet."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddab306\/42394329\/ddab306.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/31\/7\/1082\/43200247\/ddab306.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/31\/7\/1082\/43200247\/ddab306.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,2]],"date-time":"2022-04-02T11:41:28Z","timestamp":1648899688000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/31\/7\/1082\/6445344"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,1]]},"references-count":54,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2021,12,1]]},"published-print":{"date-parts":[[2022,3,31]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddab306","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2022,4,1]]},"published":{"date-parts":[[2021,12,1]]}}}