• Association of genetic variation on X chromosome with systemic lupus erythematosus in both Thai and Chinese populations

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Document Title

Association of genetic variation on X chromosome with systemic lupus erythematosus in both Thai and Chinese populations

Author

Tangtanatakul P. Lei Y. Jaiwan K. Yang W. Boonbangyang M. Kunhapan P. Sodsai P. Mahasirimongkol S. Pisitkun P. Yang Y. Eu-Ahsunthornwattana J. Aekplakorn W. Jinawath N. Neelapaichit N. Hirankarn N. Wang Y.-F.

Affiliations

Department of Transfusion Medicine and Clinical Microbiology Faculty of Allied Health Sciences Chulalongkorn University Bangkok Thailand; Centre of Excellent in Immunology and Immune-Mediated Diseases Faculty of Medicine Chulalongkorn University Bangkok Thailand; Department of Paediatrics and Adolescent Medicine Hong Kong University Hong Kong; Master of Sciences Program in Molecular Science of Medical Microbiology and Immunology Faculty of Allied Health Sciences Chulalongkorn University Bangkok Thailand; National Biobank of Thailand (NBT) National Science and Technology Development Agency Khlong Luang Pathum Thani Thailand; Department of Medical Sciences Ministry of Public Health Nonthaburi Thailand; Division of Immunology Department of Microbiology Faculty of Medicine Chulalongkorn University Bangkok Thailand; Division of Allergy Immunology and Rheumatology Department of Medicine Mahidol University Faculty of Medicine Ramathibodi Hospital Bangkok Thailand; Department of Nephrology Fourth Affiliated Hospital International Institutes of Medicine Zhejiang University School of Medicine Zhejiang Hangzhou China; Department of Community Medicine Mahidol University Faculty of Medicine Ramathibodi Hospital Bangkok Thailand; Program in Translational Medicine Mahidol University Faculty of Medicine Ramathibodi Hospital Bangkok Thailand; Integrative Computational BioScience (ICBS) Center Mahidol University Nakornpathom Thailand; Ramathibodi School of Nursing Mahidol University Faculty of Medicine Ramathibodi Hospital Bangkok Thailand; Warshel Institute for Computational Biology The Chinese University of HongKong Guangdong Shenzhen China; School of Medicine The Chinese University of HongKong Guangdong Shenzhen China

Type

Article

Source Title

Lupus Science and Medicine

ISSN

20538790

Year

2024

Volume

11

Issue

1

Open Access

All Open Access Gold Green

Publisher

BMJ Publishing Group

DOI

10.1136/lupus-2023-001061

Abstract

Objectives X chromosome has been considered as a risk factor for SLE which is a prototype of autoimmune diseases with a significant sex difference (female:male ratio is around 9:1). 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. Methods 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. Results Our analyses replicated the association of TMEM187-IRAK1-MECP2 TLR7 PRPS2 and GPR173 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 TMEM187 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 TMEM187. 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). Conclusion 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. ? Author(s) (or their employer(s)) 2024.

License

CC BY-NC

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Authors

Publication Source

Scopus

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