Abstract
BackgroundThe Catechol-O-Methyl Transferase (COMT) gene polymorphism (I/D of C nucleotide at base position 900) has been previously implicated in the development of type 2 diabetes (T2D) and kidney disease. So, aim of this study was to find association of I/D polymorphism with T2D, and its associated factors like family history and nephropathy (End Stage Renal Disease, ESRD) patients in a cohort of Pakistani Punjabis.MethodsGenomic DNA was extracted from human subjects divided as four study groups: controls (n = 46), diabetics (n = 46), diabetics with nephropathy/ESRD (n = 53), and non-diabetics without nephropathy/ESRD (n = 43). The 900 I/D C polymorphism in the COMT gene was tested by PCR-RFLP method. Genotype and allele frequencies as well as Odds Ratios were calculated for these groups. Groups were compared statistically for the analysis of genotypes, alleles, biochemical parameters as well as disease status.ResultsIn comparison with control group (non-diabetic, non-nephropathy), there was no significant difference in rest of the three groups for allele or genotype frequencies of COMT gene. However, Chi square (χ2) analysis identified a significant (p = 0.02) correlation of the 900 I/D C polymorphism with family history of diabetes, as it was found that greater number (74%) of patients having I allele had a positive family history of T2D.ConclusionsA significant correlation of the COMT polymorphism (900 I/D C) with the family history of T2D has been observed, which has not been previously reported in Pakistani Punjabi population, however, this preliminary finding requires further validation studies.
Highlights
Diabetes mellitus (DM) is a metabolic disorder caused by the chronically high blood glucose levels in the body, which may be the consequence of defect in insulin secretion, insulin action or combination of both [1]
COMT gene has been studied biologically as it codes for two protein variants which differ from each other on the basis of being soluble and membrane bounded known as Soluble Catechol-O-Methyl Transferase (S-COMT) and Membrane-bound Catechol-OMethyl Transferase (MB-COMT)
An association of dopaminergenic pathway genes with kidney diseases among type 2 diabetics was investigated in Asian Indian population, and the results showed positive correlation of COMT gene polymorphism (900 I/D C) with chronic renal insufficiency [5]
Summary
Diabetes mellitus (DM) is a metabolic disorder caused by the chronically high blood glucose levels in the body, which may be the consequence of defect in insulin secretion, insulin action or combination of both [1]. The type 2 diabetes (T2D) which is the predominant form of diabetes in adults leads to various complications of vital organs and tissues. One such complication is the Diabetic Nephropathy (DN), a kidney disease due to hyperglycemia that affects about 25-40% of the diabetics. An association of dopaminergenic pathway genes with kidney diseases among type 2 diabetics was investigated in Asian Indian population, and the results showed positive correlation of COMT gene polymorphism (900 I/D C) with chronic renal insufficiency [5]. The Catechol-O-Methyl Transferase (COMT) gene polymorphism (I/D of C nucleotide at base position 900) has been previously implicated in the development of type 2 diabetes (T2D) and kidney disease. Aim of this study was to find association of I/D polymorphism with T2D, and its associated factors like family history and nephropathy (End Stage Renal Disease, ESRD) patients in a cohort of Pakistani Punjabis
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