title: KCNQ1 rs2237895 polymorphism is associated with Gestational Diabetes in Pakistani Women.
abstract: OBJECTIVE
  Genetic studies on gestational diabetes (GDM) are relatively scarce; moreover, limited data is available for KCNQ1 polymorphism in Pakistani pregnant women. We aimed to determine the frequency of KCNQ1 rs2237895 in GDM and normal pregnant controls and its association with GDM-related phenotypes.
  
  
  METHODS
  A total of 637 pregnant females (429 controls and 208 cases) in their second trimester were classified according to the International Association of the Diabetes and Pregnancy Study criteria in this study. Their blood samples were genotyped for KCNQ1 SNP rs2237895 using PCR-RFLP method and sequencing. Fasting and two hour-post glucose load blood levels, serum HbA1c, insulin, and anthropometric assessment was performed.: Pearson's Chi Square test, Mann- Whitney U test, and regression analyses were performed. A p-value of <0.05 was considered significant.
  
  
  RESULTS
  The variant genotyped was in Hardy-Weinberg equilibrium (p>0.05). The rs2237895 showed an association with GDM (OR 2.281; 1.388-3.746: p <0.001) and remained significant after multiple adjustments for age and body mass index (OR 2.068; 1.430-2.997: p=0.005). The C allele showed positive association with insulin level, and HOMA-IR in study subjects.
  
  
  CONCLUSIONS
  This study identifies that KCNQ1 rs2237895 polymorphisms might be associated with risk of GDM in Pakistani population and that it is related to higher glucose levels and insulin resistance. Further large scale studies are required to consolidate on the functional aspect of this polymorphism.
authors.affiliation: Syeda Sadia Fatima, MBBS, MPhil, PhD, Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistani.
authors.forename: Syeda Sadia
authors.initials: SS
authors.lastname: Fatima
authors.affiliation: Bushra Chaudhry, PhD, Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistani.
authors.forename: Bushra
authors.initials: B
authors.lastname: Chaudhry
authors.affiliation: Taseer Ahmed Khan, PhD. Department of Physiology, University of Karachi, Karachi, Pakistan.
authors.forename: Taseer Ahmed
authors.initials: TA
authors.lastname: Khan
authors.affiliation: Saad Farooq, MBBS Year 5 Student, Medical College, Pakistan.
authors.forename: Saad
authors.initials: S
authors.lastname: Farooq
keywords: Body mass index; GWAS; Gestational Diabetes Mellitus; KCNQ1; SNP