Association of 32 type 1 diabetes risk loci in Pakistani patients

被引：32

作者：

Kiani, Aysha Karim ^{[1
]}

John, Peter ^{[1
]}

Bhatti, Attya ^{[1
]}

Zia, Asima ^{[1
]}

Shahid, Gulbin ^{[2
]}

Akhtar, Parveen ^{[3
]}

Wang, Xingbin ^{[4
]}

Demirci, F. Yesim ^{[4
]}

Kamboh, M. Ilyas ^{[4
]}

机构：

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

[2] Pakistan Inst Med Sci, Islamabad, Pakistan

[3] Fauji Fdn Hosp, Rawalpindi, Pakistan

[4] Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA USA

来源：

DIABETES RESEARCH AND CLINICAL PRACTICE | 2015年 / 108卷 / 01期

关键词：

Diabetes; Type; 1; diabetes; Auto-immune disease; Association studies; Diabetes in Pakistan; Insulin dependent diabetes mellitus; GENOME-WIDE ASSOCIATION; GENETICS CONSORTIUM FAMILIES; METAANALYSIS; HAPLOTYPES; TRENDS;

D O I：

10.1016/j.diabres.2015.01.022

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Aim: To identify risk alleles contributing towards type 1 diabetes in Pakistani patients. Introduction: Type 1 diabetes (T1D) is an autoimmune disease which is caused by destruction of insulin producing b cells by immune system. Genetic predisposition as well as environmental factors contribute to its etiology. To date more than 40 risk loci have been identified for T1D. Methodology: A total of 191 family-based and unrelated T1D cases and controls were recruited. DNA was extracted and 32 genome-wide significant single nucleotide polymorphisms (SNPs) previously reported in Europeans were genotyped. Genotyping was performed using TaqMan SNP genotyping assays and the data was analyzed using FamCC software. Results: Our results showed significant association of 10 single nucleotide polymorphisms (SNPs) with T1D at p < 0.01, including HLA-DQA1/rs9272346, ERBB3/rs2292239, SIRPG/rs2281808, IL2-KIAA1109/rs4505848, GLIS3/rs7020673, CD226/rs763361, PTPN2/rs478582, IKZF1/rs10272724, BACH2/rs11755527, C6orf173/rs9388489, whereas 5 more SNPs showed their association at 0.01 < p < 0.05 in Pakistani population. Conclusion: We have replicated many of the T1D loci established among Europeans in a Pakistani population. (C) 2015 Elsevier Ireland Ltd. All rights reserved.

引用

页码：137 / 142

页数：6

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