ScreeningCodon 233, 234 and 276 Polymorphisms in Exon 3 ofInsulin Receptor Gene in Type 2 Diabetes Mellitus Patients ofKashmir Valley

Hameed, Iqra

doi:10.9790/3008-0360710

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“…Although the socio-geographic features of this population like being a distinct, cut-off valley from other states and highly endogamous and consanguineous marriages practised here, the place offers an interesting and potential population for conducting genetic studies. However, studies exploring the genetic variations or molecular mechanisms involved in the etiopathogenesis of type 2 diabetes are even meagre for this population [ 34 , 35 ].…”

Section: Discussionmentioning

confidence: 99%

CTTTA Deletion/Insertion polymorphism in 3'-UTR of LEPR gene in type 2 diabetes subjects belonging to Kashmiri population

Hameed

Masoodi

Afroze

et al. 2014

J Diabetes Metab Disord

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BackgroundType 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.Methods670 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.ResultsGenotype frequencies for both type 2 diabetes cases and healthy controls were consistent with Hardy-Weinberg equilibrium (χ2 = 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.ConclusionThe results elucidate that the CTTTA Del allele is a genotypic risk factor of type 2 diabetes in the Kashmiri population.

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Section: Discussionmentioning

confidence: 99%