title: Association of 32 type 1 diabetes risk loci in Pakistani patients.
abstract: OBJECTIVE
  To identify risk alleles contributing towards type 1 diabetes in Pakistani patients.
  
  
  BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  We have replicated many of the T1D loci established among Europeans in a Pakistani population.
authors: 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.
authors: Aysha Karim
authors: AK
authors: Kiani
authors: 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.
authors: Peter
authors: P
authors: John
authors: Department of Healthcare Biotechnology, Atta-ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, Pakistan.
authors: Attya
authors: A
authors: Bhatti
authors: Department of Healthcare Biotechnology, Atta-ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences and Technology (NUST), Islamabad, Pakistan.
authors: Asima
authors: A
authors: Zia
authors: Pakistan Institute of Medical Sciences (PIMS), Islamabad, Pakistan.
authors: Gulbin
authors: G
authors: Shahid
authors: Fauji Foundation Hospital, Rawalpindi, Pakistan.
authors: Parveen
authors: P
authors: Akhtar
authors: Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
authors: Xingbin
authors: X
authors: Wang
authors: Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
authors: F Yesim
authors: FY
authors: Demirci
authors: Department of Human Genetics, University of Pittsburgh, Pittsburgh, PA, USA.
authors: M Ilyas
authors: MI
authors: Kamboh
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D059848:HLA-DQ alpha-Chains / Q000235:genetics*; D006801:Humans; D008297:Male; D010154:Pakistan / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D012307:Risk Factors; D055815:Young Adult
chemical_list: D059848:HLA-DQ alpha-Chains; C069050:HLA-DQA1 antigen; D004247:DNA
keywords: Association studies; Auto-immune disease; Diabetes; Diabetes in Pakistan; Insulin dependent diabetes mellitus; Type 1 diabetes