Aysha Karim Kiani1, Peter John2, Attya Bhatti3, Asima Zia3, Gulbin Shahid4, Parveen Akhtar5, Xingbin Wang6, F Yesim Demirci6, M Ilyas Kamboh6. 1. Department of Healthcare Biotechnology, Atta-ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, Pakistan. Electronic address: ayshakiani@gmail.com. 2. Department of Healthcare Biotechnology, Atta-ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, Pakistan. Electronic address: pjohn72@hotmail.com. 3. Department of Healthcare Biotechnology, Atta-ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, Pakistan. 4. Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan. 5. Fauji Foundation Hospital, Rawalpindi, Pakistan. 6. Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
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.
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.
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