Title
Single-nucleotide polymorphisms in VKORC1 are risk factors for systemic lupus erythematosus in Asians
Date Issued
01 January 2013
Access level
open access
Resource Type
journal article
Author(s)
Kaiser R.
Taylor K.E.
Deng Y.
Zhao J.
Li Y.
Nititham J.
Chang M.
Catanese J.
Begovich A.B.
Brown E.E.
Edberg J.C.
McGwin G.
Ramsey-Goldman R.
Reveille J.D.
Vila L.M.
Petri M.
Kimberly R.P.
Feng X.
Sun L.
Shen N.
Li W.
Lu J.X.
Wakeland E.K.
Li Q.Z.
Yang W.
Lau Y.L.
Liu F.L.
Chang D.M.
Yu C.Y.
Song Y.W.
Tsao B.P.
Criswell L.A.
Info Heersink School of Medicine
Abstract
Objective The increased risk of thrombosis in systemic lupus erythematosus (SLE) may be partially explained by interrelated genetic pathways for thrombosis and SLE. The present study was undertaken to investigate whether 33 established and novel single-nucleotide polymorphisms (SNPs) in 20 genes involved in hemostasis pathways that have been associated with deep venous thrombosis (DVT) in the general population are risk factors for SLE among Asian subjects. Methods Patients in the discovery cohort were enrolled in 1 of 2 North American SLE cohorts. Patients in the replication cohort were enrolled in 1 of 4 Asian or 2 North American cohorts. We first genotyped 263 Asian patients with SLE and 357 healthy Asian control subjects for 33 SNPs in the discovery phase, and then genotyped 5 SNPs in up to an additional 1,496 patients and 993 controls in the replication phase. Patients were compared to controls for bivariate association with minor alleles. Principal components analysis was used to control for intra-Asian ancestry in the replication cohort. Results Two genetic variants in the gene VKORC1 were highly significant in both the discovery and replication cohorts: rs9934438 (in the discovery cohort, odds ratio [OR] 2.45, P = 2 × 10-9; in the replication cohort, OR 1.54, P = 4 × 10 -6) and rs9923231 (in the discovery cohort, OR 2.40, P = 6 × 10-9; in the replication cohort, OR 1.53, P = 5 × 10 -6). These associations were significant in the replication cohort after adjustment for intra-Asian ancestry: for rs9934438, OR 1.34, P = 0.0029; for rs9923231, OR 1.34, P = 0.0032. Conclusion Genetic variants in VKORC1, which are involved in vitamin K reduction and associated with DVT, correlate with SLE development in Asian subjects. These results suggest that there may be intersecting genetic pathways for the development of SLE and thrombosis. Copyright © 2013 by the American College of Rheumatology.
Start page
211
End page
215
Volume
65
Issue
1
Language
English
OCDE Knowledge area
Inmunología Genética, Herencia Reumatología Epidemiología
Scopus EID
2-s2.0-84871749698
PubMed ID
Source
Arthritis and Rheumatism
ISSN of the container
15290131
DOI of the container
10.1002/art.37751
Sponsor(s)
National Institute of Arthritis and Musculoskeletal and Skin Diseases, R01AR043727
Sources of information: Directorio de Producción Científica Scopus