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The  cytochrome P450c17α gene  (CYP17) encodes a key biosynthesis enzyme of estrogen, which is critical  in regulating adipogenesis and adipocyte development in humans. We therefore  hypothesized that CYP17 is a candidate gene for predicting obesity. In  order to test this hypothesis, we performed a family-based association test to  investigate the relationship between the CYP17 gene and obesity  phenotypes in a large sample comprising 1873 subjects from 405 Caucasian  nuclear families of European origin recruited by the Osteoporosis Research  Center of Creighton University, USA. Both single SNPs and haplotypes were  tested for associations with obesity-related phenotypes, including body mass  index (BMI) and fat mass. We identified three SNPs to be significantly  associated with BMI, including rs3740397, rs6163, and rs619824. We further  characterized the linkage disequilibrium structure for CYP17 and found  that the whole CYP17 gene was located in a single-linkage disequilibrium  block. This block was observed to be significantly associated with BMI. A major  haplotype in this block was significantly associated with both BMI and fat  mass. In conclusion, we suggest that the CYP17 gene has an effect on  obesity in the Caucasian population. Further independent studies will be needed  to confirm our findings.

A family-based association study identified CYP17 as a candidate gene for obesity susceptibility in Caucasians