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Our study aimed at exploring the association of genetic variants in X chromosome and investigating the influence of trisomy X in the development of SLE.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>X chromosome-wide association studies were conducted using data from both Thai (835 patients with SLE and 2995 controls) and Chinese populations (1604 patients with SLE and 3324 controls). Association analyses were performed separately in females and males, followed by a meta-analysis of the sex-specific results. In addition, the dosage of X chromosome in females with SLE were also examined.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Our analyses replicated the association of <jats:italic>TMEM187-IRAK1-MECP2<\/jats:italic>, <jats:italic>TLR7<\/jats:italic>, <jats:italic>PRPS2<\/jats:italic> and <jats:italic>GPR173<\/jats:italic> loci with SLE. We also identified two loci suggestively associated with SLE. In addition, making use of the difference in linkage disequilibrium between Thai and Chinese populations, a synonymous variant in <jats:italic>TMEM187<\/jats:italic> was prioritised as a likely causal variant. This variant located in an active enhancer of immune-related cells, with the risk allele associated with decreased expression level of <jats:italic>TMEM187<\/jats:italic>. More importantly, we identified trisomy X (47,XXX) in 5 of 2231 (0.22%) females with SLE. The frequency is significantly higher than that found in the female controls (0.08%; two-sided exact binomial test P=0.002).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Our study confirmed previous SLE associations in X chromosome, and identified two loci suggestively associated with SLE. More importantly, our study indicated a higher risk of SLE for females with trisomy X.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/lupus-2023-001061","type":"journal-article","created":{"date-parts":[[2024,3,8]],"date-time":"2024-03-08T21:45:19Z","timestamp":1709934319000},"page":"e001061","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Association of genetic variation on X chromosome with systemic lupus erythematosus in both Thai and Chinese populations"],"prefix":"10.1136","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8978-6916","authenticated-orcid":false,"given":"Pattarin","family":"Tangtanatakul","sequence":"first","affiliation":[{"name":"Department of Transfusion Medicine and Clinical Microbiology, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok, Thailand"},{"name":"Centre of Excellent in Immunology and Immune-Mediated Diseases, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yao","family":"Lei","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Hong Kong University, Hong Kong, People\u2019s Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krisana","family":"Jaiwan","sequence":"additional","affiliation":[{"name":"Master of Sciences Program in Molecular Science of Medical Microbiology and Immunology, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0063-6327","authenticated-orcid":false,"given":"Wanling","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Hong Kong University, Hong Kong, People\u2019s Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manon","family":"Boonbangyang","sequence":"additional","affiliation":[{"name":"National Biobank of Thailand (NBT), National Science and Technology Development Agency, Khlong Luang, Pathum Thani, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Punna","family":"Kunhapan","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, Ministry of Public Health, Nonthaburi, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pimpayao","family":"Sodsai","sequence":"additional","affiliation":[{"name":"Centre of Excellent in Immunology and Immune-Mediated Diseases, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand"},{"name":"Division of Immunology, Department of Microbiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Surakameth","family":"Mahasirimongkol","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, Ministry of Public Health, Nonthaburi, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prapaporn","family":"Pisitkun","sequence":"additional","affiliation":[{"name":"Division of Allergy, Immunology, and Rheumatology, Department of Medicine, Mahidol University Faculty of Medicine Ramathibodi Hospital, Bangkok, Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Fourth Affiliated Hospital, International Institutes of Medicine, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jakris","family":"Eu-Ahsunthornwattana","sequence":"additional","affiliation":[{"name":"Department of 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