n South African Medical Journal - Negative association of variants with weight and blood pressure in Cape Town pupils aged 11 - 16 years : original article

Volume 101, Issue 6
  • ISSN : 0256-9574
  • E-ISSN: 2078-5135



Human and animal studies support the role of and in human obesity, but limited data are available on the genetic contribution to obesity in South African populations. Objective. To screen obese-overweight South African pupils for and polymorphisms that may play a role in the development of obesity.

A cross-sectional study screened 227 obese-overweight (115 black and 112 coloured) and 204 normal weight (94 black, 110 coloured) school pupils for the presence of and polymorphisms using a single strand conformation polymorphism, subsequent sequencing, and allele specific restriction enzyme analysis.
Two polymorphisms were detected in the (T6K and V81I) but none in . After adjusting for age, gender and case-control status, the frequency distributions of T6K and V81I genotype and allele varied significantly between the ethnic groups. The frequency of the V81I A allele was significantly lower in coloured overweight-obesity than normal pupils. In coloured pupils, both polymorphisms were associated with obesity indices and total cholesterol. The T6K A allele was also associated with lower blood pressure. Likewise, different T6K-V81I haplotypes demonstrated negative associations with obesity indices and blood pressure.
We demonstrated that the polymorphisms have a protective effect on metabolic traits; however, further analysis is required to confirm whether this translates to a lower incidence of metabolic syndrome in coloured populations.

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