Association of 32 type 1 diabetes risk loci in Pakistani patients

Abstract

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 β 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.

Keywords: Association studies; Auto-immune disease; Diabetes; Diabetes in Pakistan; Insulin dependent diabetes mellitus; Type 1 diabetes.