Association of HLA-DQB1*0501 with Scleroderma and its Clinical Features in Chinese Population

Zhou, Xiaodong; Yao, Lin; Chen, E.; Zou, Hejian; Jin, Li; Mayes, Maureen D.; Assassi, Shervin; Wang, J. C.

doi:10.1177/039463201302600318

Cited by 30 publications

(24 citation statements)

References 11 publications

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“…Using a genome-wide approach comparing 137 Korean SSc patients to 564 controls, another study found the single nucleotide polymorphisms (SNPs) rs3128930, rs7763822 and rs7764491 on HLA-DPB1 and DPB2 to be associated with SSc, especially dcSSc and ATA+ SSc, in Koreans [ 19 ], and these results were confirmed in the replication set of North American subjects [ 19 ]. Further, association between DPB1 *1301 and ATA positive SSc was consistent with studies in the Korean cohort [ 19 ], UK Caucasian [ 20 ] and Han Chinese [ 21 ]; DQB1 *0501 with ACA positive SSc was consistent with the reports in Spanish [ 22 ], Japanese [ 15 ] and Han Chinese [ 23 ]; DRB1 *0701 with SSc as a protective role was consistent with Spanish cohort [ 18 ], and DRB1 *11 with SSc as a risk factor was concordant with Spanish [ 22 ], UK [ 20 , 24 ] and South African cohorts [ 25 ]. As sample sizes become larger and methods more advanced, the HLA associations of SSc should become consistent and clear.…”

Section: Candidate Gene Studies – Immune Regulatory Genessupporting

confidence: 90%

Systemic Sclerosis is a Complex Disease Associated Mainly with Immune Regulatory and Inflammatory Genes

Jin¹,

Chou²,

Lima³

et al. 2014

TORJ

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Systemic sclerosis (SSc) is a fibrotic and autoimmune disease characterized clinically by skin and internal organ fibrosis and vascular damage, and serologically by the presence of circulating autoantibodies. Although etiopathogenesis is not yet well understood, the results of numerous genetic association studies support genetic contributions as an important factor to SSc. In this paper, the major genes of SSc are reviewed. The most recent genome-wide association studies (GWAS) are taken into account along with robust candidate gene studies. The literature search was performed on genetic association studies of SSc in PubMed between January 2000 and March 2014 while eligible studies generally had over 600 total participants with replication. A few genetic association studies with related functional changes in SSc patients were also included. A total of forty seven genes or specific genetic regions were reported to be associated with SSc, although some are controversial. These genes include HLA genes, STAT4, CD247, TBX21, PTPN22, TNFSF4, IL23R, IL2RA, IL-21, SCHIP1/IL12A, CD226, BANK1, C8orf13-BLK, PLD4, TLR-2, NLRP1, ATG5, IRF5, IRF8, TNFAIP3, IRAK1, NFKB1, TNIP1, FAS, MIF, HGF, OPN, IL-6, CXCL8, CCR6, CTGF, ITGAM, CAV1, MECP2, SOX5, JAZF1, DNASEIL3, XRCC1, XRCC4, PXK, CSK, GRB10, NOTCH4, RHOB, KIAA0319, PSD3 and PSOR1C1. These genes encode proteins mainly involved in immune regulation and inflammation, and some of them function in transcription, kinase activity, DNA cleavage and repair. The discovery of various SSc-associated genes is important in understanding the genetics of SSc and potential pathogenesis that contribute to the development of this disease.

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Section: Candidate Gene Studies – Immune Regulatory Genessupporting

confidence: 90%

Systemic Sclerosis is a Complex Disease Associated Mainly with Immune Regulatory and Inflammatory Genes

Jin¹,

Chou²,

Lima³

et al. 2014

TORJ

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“…As we previously reported that DQB1*05∶01 was strongly associated with ACA positive SSc in Han Chinese [21]. In fact, DRB1*15∶02/DQB1*05∶01 was considered as a haplotype in Asia population [22].…”

Section: Resultsmentioning

confidence: 84%

Association of the HLA-DRB1 with Scleroderma in Chinese Population

Wang

Lin

et al. 2014

PLoS ONE

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Multiple alleles of the Human leukocyte antigen (HLA) DRB1 have been strongly associated with systemic sclerosis (SSc) and its clinical or serological subsets. However, the associations vary in different ethnic populations. To define SSc-risk and/or -protective alleles of HLA-DRB1 in Chinese population, we studied a Han Chinese cohort containing 585 patients with SSc and 458 gender-matched, unrelated controls. The HLA-DRB1 genotyping was performed with sequence-based typing method. Exact p-values were obtained (Fisher’s test) from 2×2 tables of allele frequency and disease status. The major SSc-risk allele subtypes of HLA-DRB1 are the DRB1*15∶02 and *16∶02 in this Chinese cohort. Particularly, DRB1*15∶02 was most significantly associated with anti-centromere autoantibodies (ACA) positive, and DRB1*16∶02 with anti-topoisomerase I autoantibodies (ATA) positive patients. On the other hand, DRB1*01∶01 and *04∶06 were strong SSc-protective alleles in Chinese, especially in patients who were ACA positive and had diffuse cutaneous SSc (dcSSc), respectively. In addition, DRB1*11 and *07∶01 also showed significant association with SSc as a risk for and protection from SSc, respectively, and which is consistent with the studies of Spanish, US Caucasian and Hispanic populations. DRB1*15 was associated with ATA positive Chinese SSc that is consistent with Black South African and Korean SSc. These findings of HLA-DRB1 alleles in association with Chinese SSc provide the growing knowledge of genetics of SSc, and indicate that the genetic heterogeneity among ethnicities may significantly impact the complex trait of SSc.

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“…In the studies of HLA-DPB1 and –DQB1 , the specific HLA alleles in this Chinese cohort were associated with SSc, and that was also consistent with Caucasian population [ 13 ]. For instance, HLA-DPB1 *13:01 was strongly associated with ATA positive SSc [ 7 , 13 ], and HLA-DQB1 *05:01 with ACA positive SSc in both Han Chinese and US Caucasian cohorts [ 8 , 13 ]. On the other hand, DQB1 *06:01 appeared more common in ATA positive Chinese SSc, which was not reported in US SSc, but was consistent with a report of Japanese SSc cohort [ 14 ].…”

Section: Resultsmentioning

confidence: 99%

Lack of Association of the CD247 SNP rs2056626 with Systemic Sclerosis in Han Chinese

Wang¹,

Lin²,

Guo³

et al. 2014

TORJ

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Systemic sclerosis (SSc) is a complex disease involving multiple genetic factors. A recent genome-wide association study (GWAS) indicated that CD247 was strongly associated with SSc, which was subsequently confirmed in a SSc cohort of European population. However, genetic heterogeneity in different ethnic populations may significantly impact the complex trait of SSc. The studies herein aimed to examine whether the SSc-associated SNP rs2056626 of CD247 identified in Caucasian is also associated with Han Chinese SSc. A Han Chinese cohort consisting of 387 SSc patients and 523 healthy controls were examined in the studies. TaqMan assays were performed to examine the SNP. Exact p-values were obtained (Fisher’s test) from 2x2 tables of allele counts and disease status. The results showed that there was no association between rs2056626 of CD247 and SSc or any SSc subtypes of Han Chinese. The negative results are important in understanding genetics of SSc in different ethnic populations, which further suggest complex nature of genetics of SSc.

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Association of HLA-DQB1*0501 with Scleroderma and its Clinical Features in Chinese Population

Cited by 30 publications

References 11 publications

Systemic Sclerosis is a Complex Disease Associated Mainly with Immune Regulatory and Inflammatory Genes

Systemic Sclerosis is a Complex Disease Associated Mainly with Immune Regulatory and Inflammatory Genes

Association of the HLA-DRB1 with Scleroderma in Chinese Population

Lack of Association of the CD247 SNP rs2056626 with Systemic Sclerosis in Han Chinese

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