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Variants at Potential Loci Associated With Sjogren's Syndrome in Koreans: A Genetic Association Study

Authors
 Qingxia Shen  ;  Kwanghwan Lee  ;  Seong Kyu Han  ;  Hyung-Joon Ahn  ;  Sanguk Kim  ;  Jae Hoon Lee 
Citation
 CLINICAL IMMUNOLOGY, Vol.207 : 79-86, 2019-10 
Journal Title
 CLINICAL IMMUNOLOGY 
ISSN
 1521-6616 
Issue Date
2019-10
MeSH
Aged ; Asian Continental Ancestry Group* ; Female ; Genetic Predisposition to Disease* ; Humans ; Middle Aged ; Polymorphism, Single Nucleotide* ; Republic of Korea / epidemiology ; Sjogren's Syndrome / epidemiology* ; Sjogren's Syndrome / genetics*
Keywords
Biomarker ; Genetic association study ; Korean population ; Sjogren's syndrome ; Susceptibility loci ; Whole exome sequencing
Abstract
Sjogren's syndrome (SS), a chronic autoimmune disease, typically causes or involves inflammation in the salivary and lacrimal glands. Although recent genetic association studies have contributed to the discovery of SS susceptible genes, few studies have reported on the Korean population. Here, we did a genetic association study of SS in Korean patients using whole-exome sequencing data of 15 patients and 100 healthy controls. In addition to confirming previously described SS susceptibility loci MSH5 (p = 1.67 × 10-5) and RELN (p = 4.91 × 10-6), we also validated PRAMEF13 (p = 2.28 × 10-5), TARBP1 (p = 1.87 × 10-5), UGT2B28 (p = 1.33 × 10-5), TRBV5-6 (p = 2.27 × 10-5) and NAPB (p = 3.73 × 10-5) as novel susceptibility loci for SS. Furthermore, we identified UGT2B28, TARBP1 and PRAMEF13 as associated with human immune function. These findings may provide useful insight into to the pathways and pathogenesis contributing to SS susceptibility in the Korean population.
Full Text
https://www.sciencedirect.com/science/article/pii/S1521661619302657
DOI
10.1016/j.clim.2019.07.010
Appears in Collections:
2. College of Dentistry (치과대학) > Dept. of Orofacial Pain and Oral Medicine (구강내과학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Prosthodontics (보철과학교실) > 1. Journal Papers
Yonsei Authors
Ahn, Hyoung Joon(안형준)
Lee, Jae Hoon(이재훈) ORCID logo https://orcid.org/0000-0003-2281-8885
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/175819
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