Kiani Aysha Karim, John Peter, Bhatti Attya, Zia Asima, Shahid Gulbin, Akhtar Parveen, Wang Xingbin, Demirci F Yesim, Kamboh M Ilyas
Department of Healthcare Biotechnology, Atta-ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, Pakistan.
Department of Healthcare Biotechnology, Atta-ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, Pakistan.
Diabetes Res Clin Pract. 2015 Apr;108(1):137-42. doi: 10.1016/j.diabres.2015.01.022. Epub 2015 Jan 21.
To identify risk alleles contributing towards type 1 diabetes in Pakistani patients.
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.
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.
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.
We have replicated many of the T1D loci established among Europeans in a Pakistani population.
鉴定巴基斯坦1型糖尿病患者的风险等位基因。
1型糖尿病（T1D）是一种自身免疫性疾病，由免疫系统破坏产生胰岛素的β细胞所致。遗传易感性和环境因素均对其病因有影响。迄今为止，已鉴定出40多个1型糖尿病风险位点。
共招募了191例基于家系的和无亲缘关系的1型糖尿病病例及对照。提取DNA，并对先前在欧洲人中报道的32个全基因组显著单核苷酸多态性（SNP）进行基因分型。使用TaqMan SNP基因分型检测进行基因分型，并使用FamCC软件分析数据。
我们的结果显示，10个单核苷酸多态性（SNP）与1型糖尿病显著相关（p<0.01），包括HLA-DQA1/rs9272346、ERBB3/rs2292239、SIRPG/rs2281808、IL2-KIAA1109/rs4505848、GLIS3/rs7020673、CD226/rs763361、PTPN2/rs478582、IKZF1/rs10272724、BACH2/rs11755527、C6orf173/rs9388489，而另外5个SNP在巴基斯坦人群中显示出在0.01<p<0.05水平上的关联。
我们在巴基斯坦人群中复制了许多在欧洲人中确定的1型糖尿病位点。
