title: CTTTA Deletion/Insertion polymorphism in 3'-UTR of LEPR gene in type 2 diabetes subjects belonging to Kashmiri population.
abstract: BACKGROUND
  Type 2 diabetes mellitus is a multi-factorial disease in which both genetic and non-genetic factors interact in order to precipitate the diabetic phenotype. Among various predisposing genetic loci, a pentanucleotide (CTTTA) Del/Ins variant in the 3'-UTR of the LEPR gene is associated with type 2 diabetes and its related traits. This study was done to explicate for the first time the association of this Del/Ins polymorphism of LEPR gene in type 2 diabetes patients belonging to the ethnic population of Kashmir valley.
  
  
  METHODS
  670 unrelated subjects comprising of 320 type 2 diabetes patients and 350 healthy controls were included in the study. Genotyping of the untranslated region of LEPR gene encompassing this Del/Ins variant was done by PCR-RFLP technique and results were validated by direct sequencing.
  
  
  RESULTS
  Genotype frequencies for both type 2 diabetes cases and healthy controls were consistent with Hardy-Weinberg equilibrium (χ(2) = 3.09 and 2.37, P = NS). The Del/Del genotype was predominantly found in cases than controls (P = 0.003, OR: 0.62, CI: 0.45-0.85). Carriers of Ins/Ins genotype were relatively protected against the risk factors (P = 0.0004, OR: 0.31, 95% CI: 0.15-0.61). A positive association was observed between the Del allele and the risk factors of type 2 diabetes.
  
  
  CONCLUSIONS
  The results elucidate that the CTTTA Del allele is a genotypic risk factor of type 2 diabetes in the Kashmiri population.
authors.affiliation: Department of Biochemistry, University of Kashmir, Srinagar, India.
authors.forename: Iqra
authors.initials: I
authors.lastname: Hameed
authors.affiliation: Department of Endocrinology, Sher-I-Kashmir Institute of medical Sciences, Srinagar, Kashmir India.
authors.forename: Shariq R
authors.initials: SR
authors.lastname: Masoodi
authors.affiliation: Department of Immunology and Molecular Medicine, Sher-I-Kashmir Institute of medical Sciences, Srinagar, Kashmir India.
authors.forename: Dil
authors.initials: D
authors.lastname: Afroze
authors.affiliation: Department of Endocrinology, Sher-I-Kashmir Institute of medical Sciences, Srinagar, Kashmir India.
authors.forename: Riyaz A
authors.initials: RA
authors.lastname: Bhat
authors.affiliation: Department of Immunology and Molecular Medicine, Sher-I-Kashmir Institute of medical Sciences, Srinagar, Kashmir India.
authors.forename: Niyaz A
authors.initials: NA
authors.lastname: Naykoo
authors.affiliation: Department of Endocrinology, Sher-I-Kashmir Institute of medical Sciences, Srinagar, Kashmir India.
authors.forename: Shahnaz A
authors.initials: SA
authors.lastname: Mir
authors.affiliation: Department of Endocrinology, Sher-I-Kashmir Institute of medical Sciences, Srinagar, Kashmir India.
authors.forename: Idrees
authors.initials: I
authors.lastname: Mubarik
authors.affiliation: Centre for Research and Development (CORD), University of Kashmir, Srinagar, India.
authors.forename: Bashir A
authors.initials: BA
authors.lastname: Ganai
keywords: Ethnic population; Kashmir valley; LEPR; Polymorphism; Type 2 diabetes mellitus