INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 familiesReportar como inadecuado

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BMC Medical Genetics

, 7:83

First Online: 30 November 2006Received: 25 July 2006Accepted: 30 November 2006


BackgroundObesity is a major public health problem. Body mass index BMI is a highly heritable phenotype but robust associations of genetic polymorphisms to BMI or other obesity-related phenotypes have been difficult to establish. Recently a large genetic association study showed evidence for association of the single nucleotide polymorphism SNP rs7566605, which lies 10 Kb 5- to the first exon of the insulin-induced gene 2 INSIG-2, with obesity in several cohorts. We tested this polymorphism for association with body mass related phenotypes in a large family study whose mean BMI was consistent with moderate overweight.

MethodsWe studied 1428 members of 248 British Caucasian families who had been ascertained through a proband with hypertension. We measured BMI, waist and hip circumference, and plasma levels of leptin. We genotyped the rs7566605 SNP using a restriction fragment length polymorphism assay, and carried out a family-based association test for quantitative traits related to obesity using the statistical programs MERLIN and QTDT.

ResultsWe observed no significant association between genotype at rs7566605 and covariate-adjusted for age, sex, alcohol consumption, smoking and exercise habit log-transformed BMI, waist measurement, hip measurement, waist-to-hip ratio, or plasma levels of leptin.

ConclusionThere was no association between genotype at rs7566605 and obesity-related phenotypes in this British Caucasian population. These families were in general moderately overweight, few members being severely obese. Our result indicates that this polymorphism has little if any effect on BMI within the normal to moderately overweight range. The effects of this polymorphism on body mass may be restricted to those already predisposed to at least moderate obesity as a result of environmental factors and other predisposing genotypes.

Electronic supplementary materialThe online version of this article doi:10.1186-1471-2350-7-83 contains supplementary material, which is available to authorized users.

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Autor: Darroch H Hall - Thahira Rahman - Peter J Avery - Bernard Keavney


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