Haplotype analysis of the PPARγ Prol 12Ala and CI431T variants reveals opposing associations with body weight
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2002-11-13
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BMC Genetics
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BMC
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General Practice
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Doney, A., Fischer, B., Frew, D., Cumming, A., Flavell, D. M., World, M., Montgomery, H. E., Boyle, D., Morris, A. & Palmer, C. N. A. (2002). Haplotype analysis of the PPARγ Prol 12Ala and CI431T variants reveals opposing associations with body weight. BMC Genetics, 3 (1), https://doi.org/10.1186/1471-2156-3-21.
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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.