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Haplotype analysis of the PPAR gamma Pro12Ala and C1431T variants reveals opposing associations with body weight

Doney, A; Fischer, B; Frew, D; Cumming, A; Flavell, DM; World, M; Montgomery, HE; ... Palmer, CNA; + view all (2002) Haplotype analysis of the PPAR gamma Pro12Ala and C1431T variants reveals opposing associations with body weight. BMC Genetics , 3 , Article 21. 10.1186/1471-2156-3-21. Green open access

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Abstract

Background: Variation at the PPARG locus may influence susceptibility to type 2 diabetes and related traits. The Pro12Ala polymorphism may modulate receptor activity and is associated with protection from type 2 diabetes. However, there have been inconsistent reports of its association with obesity. The silent C1431T polymorphism has not been as extensively studied, but the rare T allele has also been inconsistently linked to increases in weight. Both rare alleles are in linkage disequilibrium and the independent associations of these two polymorphisms have not been addressed.Results: We have genotyped a large population with type 2 diabetes (n = 1107), two populations of non-diabetics from Glasgow (n = 186) and Dundee (n = 254) and also a healthy group undergoing physical training (n = 148) and investigated the association of genotype with body mass index. This analysis has demonstrated that the Ala12 and T1431 alleles are present together in approximately 70% of the carriers. By considering the other 30% of individuals with haplotypes that only carry one of these polymorphisms, we have demonstrated that the Ala12 allele is consistently associated with a lower BMI, whilst the T1431 allele is consistently associated with higher BMI.Conclusion: This study has therefore revealed an opposing interaction of these polymorphisms, which may help to explain previous inconsistencies in the association of PPARG polymorphisms and body weight.

Type: Article
Title: Haplotype analysis of the PPAR gamma Pro12Ala and C1431T variants reveals opposing associations with body weight
Open access status: An open access version is available from UCL Discovery
DOI: 10.1186/1471-2156-3-21
Publisher version: http://dx.doi.org/10.1186/1471-2156-3-21
Language: English
Additional information: © 2002 Doney et al; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL.
Keywords: PROLIFERATOR-ACTIVATED-RECEPTOR, PLASMA LEPTIN LEVELS, INSULIN SENSITIVITY, OBESE SUBJECTS, MASS INDEX, COMBINED HYPERLIPIDEMIA, RECEPTOR-GAMMA(2) GENE, DIABETES-MELLITUS, MISSENSE MUTATION, PPAR-GAMMA-2 GENE
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Internal Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/184649
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