engleski

Association analysis of haplotypes of the leptin gene promotor region with BMI in Roma population

Leptin, an adipocyte-derived protein, plays a key role in regulating energy intake and consumption. Increased circulating leptin levels, commonly found in obesity, indicate a failure to signal satiety and halt the progression of obesity. Aim of this study was to investigate the association of single nucleotide polymorphisms (SNP) and haplotypes of the leptin gene promotor region with body mass index (BMI) in Roma (Gypsy), a population known to be vulnerable to developing obesity presumably due to both their life-style and genetic background. We sequenced 1500 bp region of leptin gene promotor in the sample of 377 Roma individuals from Croatia and identified 9 polymorphic sites. Haploview software was used to assess linkage disequilibrium (LD) among polymorphic loci as well as the Unphased version 3.0.13 software for haplotype association analysis. All nine SNPs were grouped into single LD block due to their proximity. None of the single markers (rs1349419, rs146378188, rs13245201, rs185230264, rs791614, rs12535708, rs10487506, rs11770725 and rs12535747) showed individual statistically significant association with BMI. However, two haplotypes, A-A-G-G-A-C-G-T-C and G-A-A-G-G-A-A-T-A, showed significant association with BMI (p=0.005061 and p=0.03214). Both p-values remained significant after 1000 permutation tests. Our data showed that haplotype association analysis provided advantage over individual SNPs analysis. Haplotypes spanning the leptin gene promotor region were found to be significant predictors of BMI in Croatian Roma.

leptin gene promotor region; haplotype; body mass index; Roma; Croatia

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