{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T15:10:18Z","timestamp":1776006618375,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,5,7]],"date-time":"2019-05-07T00:00:00Z","timestamp":1557187200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["No. 81560516"],"award-info":[{"award-number":["No. 81560516"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Kashin\u2010Beck Disease (KBD) is a chronic, endemic osteoarthropathy. Inositol 1,4,5\u2010triphosphate receptor type 2 <jats:bold>(<\/jats:bold><jats:italic>ITPR2<\/jats:italic><jats:bold>)<\/jats:bold> gene is involved in chondrocytes. We speculated that single\u2010nucleotide polymorphisms (SNPs) in <jats:italic>ITPR2<\/jats:italic> gene may have an association with KBD in Tibetan.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>To prove this hypothesis, a total of eight SNPs (rs1049376, rs11048526, rs11048556, rs11048585, rs16931011, rs10842759, rs2230372, and rs7134213) were selected, and genotyped in 316 KBD patients and 320 controls. The association between <jats:italic>ITPR2<\/jats:italic> variants and KBD risk was assessed by logistic regression analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The study identified significant association (<jats:italic>p<\/jats:italic>\u00a0=\u00a00.019) between KBD and a novel locus, <jats:italic>ITPR2<\/jats:italic> SNP rs11048526 (OR\u00a0=\u00a01.49, 95% CI\u00a0=\u00a01.07\u20132.08). The variant A\/G genotype frequency in rs11048526 had a significantly increased risk of KBD in co\u2010dominant model (OR\u00a0=\u00a03.70, 95% CI\u00a0=\u00a01.26\u201310.89, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.018), dominant model (OR\u00a0=\u00a03.56, 95% CI\u00a0=\u00a01.22\u201310.40, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.020), log\u2010additive model (OR\u00a0=\u00a03.00, 95% CI\u00a0=\u00a01.12\u20138.00, <jats:italic>p<\/jats:italic>\u00a0=\u00a00.029) after adjusted for age and gender.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The results indicate a potential association between <jats:italic>ITPR2<\/jats:italic> and KBD risk in Tibetan. Further work is required to confirm these results and explore the mechanisms of these effects.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.715","type":"journal-article","created":{"date-parts":[[2019,5,8]],"date-time":"2019-05-08T04:14:34Z","timestamp":1557288874000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genetic variants in the <i>ITPR2<\/i> gene are associated with Kashin\u2010Beck Disease in Tibetan"],"prefix":"10.1002","volume":"7","author":[{"given":"Xue","family":"He","sequence":"first","affiliation":[{"name":"Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"},{"name":"Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"},{"name":"Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei","family":"Bai","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"},{"name":"Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"},{"name":"Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of gynaecology and obstetrics The Second Affiliated Hospital of Xi'an Jiaotong University Xi'an China"},{"name":"Department of gynaecology and obstetrics The Ngari Prefecture People's Hospital Ngari Prefecture China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Wang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"},{"name":"Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"},{"name":"Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongjun","family":"He","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"},{"name":"Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"},{"name":"Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Rong","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"},{"name":"Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"},{"name":"Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3480-5283","authenticated-orcid":false,"given":"Dongya","family":"Yuan","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"},{"name":"Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"},{"name":"Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tianbo","family":"Jin","sequence":"additional","affiliation":[{"name":"Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"},{"name":"Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"},{"name":"Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine Xizang Minzu University Xianyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,5,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth457"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.320.7247.1468"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.3.3.705"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0007114511002704"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joca.2014.11.017"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.27282"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2004-1612"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v21.i22.6898"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nutd.2013.26"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joca.2014.07.023"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep31792"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep40020"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.685"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0071411"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00296-015-3215-3"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.4238\/gmr.15017447"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0120365"},{"issue":"3","key":"e_1_2_9_19_1","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/sj.cr.7290272","article-title":"SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci","volume":"15","author":"Shi Y. Y.","year":"2005","journal-title":"Cell Research"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.30526"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0423-6"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/CEJ.0000000000000012"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr479"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joca.2010.02.004"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-014-1418-4"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.38898"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.715","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.715","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.715","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.715","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T05:03:35Z","timestamp":1694322215000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.715"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,7]]},"references-count":25,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["10.1002\/mgg3.715"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.715","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,7]]},"assertion":[{"value":"2018-11-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-04-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e00715"}}