Association of CD247 with systemic lupus erythematosus in Asian populations

Li, R.; Yang, Wanling; Zhang, J.; Hirankarn, Nattiya; Pan, Hai; Mok, Chi Chiu; Chan, Tak Mao; Wong, Raymond Woon Sing; Mok, Mo Yin; Lee, K. W.; Wong, Sik Nin; Leung, Alexander Moon Ho; Li, X. P.; Avihingsanon, Yingyos; Lee, T. L.; Ho, Mhk; Lee, Ppw; Wong, Whs; Wong, Chun Ming; Ng, Iol; Yang, Jiekun; Li, P. H.; Zhang, Y.; Zhang, L.; Li, W.; Baum, Larry; Kwan, Patrick; Rianthavorn, Pornpimol; Deekajorndej, Tawatchai; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk; García-Barceló, Maria Mercè; Cherny, Stacey S.; Tam, Pkh; Sham, Pak-Chung; Lau, Chak Sing; Shen, Nan; Lau, Yu Lung; Ye, D. Q.

doi:10.1177/0961203311422724

Cited by 29 publications

(20 citation statements)

References 29 publications

(45 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Our most significant findings are consistent with those from a previous report in Asian populations (11) that resulted from the examination of GWAS data (19). In these studies, 14 SNPs in the CD247 gene locus (including both upstream and downstream regions of the gene) were found to be significantly associated with SLE, five of which were inside the CD247 gene (personal communication from authors of (19), May 2012), all located in intron 1 (as indicated by the dark blue dots in Figure 1).…”

Section: Resultssupporting

confidence: 93%

“…In contrast, our discoveries highlight genetic association in Asians in the 5’ region (intron1) of CD247 . This is consistent with recent studies performed in Asian populations (11). Considering the ethnic heterogeneities in the epidemiology of SLE (12,13), these observations suggest a particular association of CD247 genetic variants in Asian populations.…”

Section: Discussionsupporting

confidence: 94%

“…Imputation did not return results for the top significant variants in Li et al . (11) and GWAS (19). …”

Section: Resultsmentioning

confidence: 99%

“…Two reports have provided evidence for such an association, identifying two 3' UTR SNPs in strong linkage disequilibrium and showing association with differential CD3ζ expression (9) as well as with SLE (10) in a European population. More recently, several SNPs within CD247 (particularly in intron 1) were also found associated to SLE in Asian populations (11). Because the epidemiology of SLE has demonstrated that the prevalence of disease differs substantially across ethnic groups, it is logical that there exists significant genetic heterogeneity in the causes of SLE across populations (12,13).…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Genetic association of CD247 (CD3ζ) with SLE in a large-scale multiethnic study

Martins

Williams²,

Comeau³

et al. 2015

Genes Immun

View full text Add to dashboard Cite

A classic T-cell phenotype in Systemic lupus erythematosus (SLE) is the downregulation and replacement of the CD3ζ chain that alters TCR signaling. However, genetic associations with SLE in the human CD247 locus that encodes CD3ζ are not well established and require replication in independent cohorts. Our aim was therefore to examine, localize and validate CD247-SLE association in a large multi-ethnic population. We typed 44 contiguous CD247 SNPs in 8 922 SLE patients and 8 077 controls from four ethnically distinct populations. The strongest associations were found in the Asian population (11 SNPs in intron 1, 4.99×10−4

show abstract

Section: Resultssupporting

confidence: 93%

Section: Discussionsupporting

confidence: 94%

“…Imputation did not return results for the top significant variants in Li et al . (11) and GWAS (19). …”

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Genetic association of CD247 (CD3ζ) with SLE in a large-scale multiethnic study

Martins

Williams²,

Comeau³

et al. 2015

Genes Immun

View full text Add to dashboard Cite

show abstract

“…been extremely successful in identifying susceptibility loci for many disease phenotypes, including SLE [8][9][10][11][12][13][14][15] and related endophenotypes. 16,17 Herein, we report the first large-scale GWAS to identify loci predisposing to LN among women with SLE.…”

mentioning

confidence: 99%

Lupus Nephritis Susceptibility Loci in Women with Systemic Lupus Erythematosus

Chung

Brown

Williams

et al. 2014

Journal of the American Society of Nephrology

119

View full text Add to dashboard Cite

Lupus nephritis is a manifestation of SLE resulting from glomerular immune complex deposition and inflammation. Lupus nephritis demonstrates familial aggregation and accounts for significant morbidity and mortality. We completed a meta-analysis of three genome-wide association studies of SLE to identify lupus nephritis-predisposing loci. Through genotyping and imputation, .1.6 million markers were assessed in 2000 unrelated women of European descent with SLE (588 patients with lupus nephritis and 1412 patients with lupus without nephritis). Tests of association were computed using logistic regression adjusting for population substructure. The strongest evidence for association was observed outside the MHC and included markers localized to 4q11-q13 (PDGFRA, GSX2; P54.5310 27 ), 16p12 (SLC5A11;P55.1310 27 ), 6p22 (ID4; P57.4310 27 ), and 8q24.12 (HAS2, SNTB1; P51.1310 26 ). Both HLA-DR2 and HLA-DR3, two well established lupus susceptibility loci, showed evidence of association with lupus nephritis (P=0.06 and P53.7310 25 , respectively). Within the class I region, rs9263871 (C6orf15-HCG22) had the strongest evidence of association with lupus nephritis independent of HLA-DR2 and HLA-DR3 (P58.5310 26 ). Consistent with a functional role in lupus nephritis, intra-renal mRNA levels of PDGFRA and associated pathway members showed significant enrichment in patients with lupus nephritis (n=32) compared with controls (n=15). Results from this large-scale genome-wide investigation of lupus nephritis provide evidence of multiple biologically relevant lupus nephritis susceptibility loci.

show abstract

Genetic studies on systemic lupus erythematosus in East Asia point to population differences in disease susceptibility

Wang

Lau

Yang

2019

American J of Med Genetics Pt C

View full text Add to dashboard Cite

Systemic lupus erythematosus (SLE) is a prototype autoimmune disease with extreme clinical heterogeneity and significant differences between populations. East Asian populations are known to have higher prevalence and more severe clinical manifestations for SLE than Europeans. The difference could be the result of genetic and environmental factors, and the interactions between them. Thus, identifying genetic associations from diverse populations provides an opportunity to better understand the genetic architecture of this heterogeneous disease. It is also necessary to elucidate population differences and to apply the findings in future stratified treatment of the disease, with ethnicity likely a major factor to consider. Indeed, it has shown that there are significant differences between East Asians and European populations in several genetic loci for SLE. Genetic studies on SLE are very active in East Asian countries and there have been close collaborations among scientists in this region. Here, we document some work done in this region on SLE genetic research and discuss the aspect of population differences.

show abstract

Association of CD247 with systemic lupus erythematosus in Asian populations

Abstract: A significant association between variants in CD247 and SLE was demonstrated in Asian populations. Understanding the involvement of CD247 in SLE may shed new light on disease mechanisms and development of new treatment paradigms.

Cited by 29 publications

References 29 publications

Genetic association of CD247 (CD3ζ) with SLE in a large-scale multiethnic study

Genetic association of CD247 (CD3ζ) with SLE in a large-scale multiethnic study

Lupus Nephritis Susceptibility Loci in Women with Systemic Lupus Erythematosus

Genetic studies on systemic lupus erythematosus in East Asia point to population differences in disease susceptibility

Contact Info

Product

Resources

About