Replication of European Rheumatoid Arthritis Loci in a Pakistani Population

被引：8

作者：

Jalil, Syed Fazal ^{[1
]}

Bhatti, Attya ^{[1
]}

Demirci, F. Yesim ^{[2
]}

Wang, Xingbin ^{[2
]}

Ahmed, Iltaf ^{[1
]}

Ahmed, Mushtaq

Barmada, M. Michael ^{[2
]}

Malik, Javaid M.

John, Peter ^{[1
]}

Kamboh, M. Ilyas ^{[2
]}

机构：

[1] Natl Univ Sci & Technol, Atta Ur Rahman Sch Appl Biosci ASAB, Islamabad, Pakistan

[2] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15261 USA

来源：

JOURNAL OF RHEUMATOLOGY | 2013年 / 40卷 / 04期

基金：

美国国家卫生研究院;

关键词：

RHEUMATOID ARTHRITIS; SUSCEPTIBILITY; RELATED-UNRELATED ASSOCIATION STUDY; AUTOIMMUNE DISEASE; GENOME-WIDE ASSOCIATION; RISK LOCUS; RECOMMENDATIONS; GENETICS; FAMILY; CCR6;

D O I：

10.3899/jrheum.121050

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Objective. Genetic studies have identified several rheumatoid arthritis (RA) susceptibility loci in European-derived populations. The same biological pathways may be involved in determining the RA risk in different population groups. We sought to replicate the association of 33 single-nucleotide polymorphisms (SNP) from 31 RA susceptibility loci confirmed among Europeans in a unique Pakistani population. Methods. We genotyped 33 SNP in a sample of 366 Pakistanis that comprised related and unrelated cases and controls. Genotyping was performed using TaqMan assays and the results were analyzed with family case-control software. Results. Twelve of the 33 SNP were replicated in this sample with significant p values ranging from 7.05E-06 to 3.72E-02, the most significant being the KIF5A-PIP4K2C/rs1678542 SNP. Conclusion. Our observations suggest that a number of RA susceptibility loci and related pathways are shared across different populations. (First Release Feb 1 2013; J Rheumatol 2013;40:401-7; doi:10.3899/jrheum.121050)

引用

页码：401 / 407

页数：7

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