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Title: Insulin resistance candidate gene polymorphisms and predisposition to Type 2 diabetes mellitus


Genetics and environmental factors play a role in the pathogenesis of the complex disease, type 2 diabetes mellitus. Two major pathophysiological defects coexist m this disease: impairment of insulin secretion by β-cells and decreased insulin sensitivity in peripheral tissues. The aim of the study was to examine whether two polymorphisms: the -308 G/ A substitution in the promoter region of TNF-α. gene and the K121Q amino acid variant of the PC- 1 gene influence insulin resistance in individuals with positive family history of type 2 diabetes mellitus. In order to describe a role of these polymorphisms in Type 2 diabetes mellitus development in a Polish population a case – control study was performed. 120 healthy subjects with normal glucose tolerance were enrolled. Insulin resistance measures were taken (indirect, verified by the metabolic clamp). Homozygous and heterozygous carriers of the A allele in position -308 of the TNF-α. gene promoter showed higher plasma insulin levels at 120 min OGTT versus GG carriers (5,88; SD 6,5 wobec 3,36; SD 2,4; p = 0,04). In addition, carriers of the Q allele at residue 121 of the PC-1 gene showed higher plasma glucose levels at 120 min OGTT compared to the KK subjects (5,03; SD 1,25 wobec 4,68; SD 1,31; p = 0,04). In case - control study no difference in allele distribution was found. Our study suggests that both examined polymorphisms infl ; uence the development of insulin resistance as a prediabetic quantitative trait in a Polish population. However, to development of Type 2 diabetes mellitus additional genetics and environmental factors are needed.

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Level of degree:

2 - studia doktoranckie

Degree discipline:

genetyka ; endokrynologia

Degree grantor:

Wydział Lekarski


Sieradzki, Jacek

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tylko w bibliotece

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Last modified:

Jul 7, 2022

In our library since:

Nov 21, 2012

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Edition name Date
ZB-100699 Jul 7, 2022


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