engleski

Association analysis of the leptin receptor gene haplotypes with cardiovascular risk phenotypes

Aims: Leptin is an adipocyte-derived protein with an important role in regulation of food intake, metabolism, reproductive and immune function. It acts through its specific receptor which is predominantly expressed in hypothalamus. Aim of this study was to investigate association of haplotypes of the leptin receptor gene (LEPR) with several cardiovascular (CVD) risk phenotypes, namely, body mass index, waist circumference, serum lipid, fibrinogen and C-reactive protein levels. Methods: We selected 43 single nucleotide polymorphisms (SNP) in and near LEPR gene from genome-wide association study data (Human Hap300 Illumina platform) of 986 inhabitants of the island of Vis, Croatia. We used Haploview software to assess linkage disequilibrium (LD) structure in genomic region of LEPR gene and Unphased software for haplotype association analysis. Results: SNPs were grouped into nine blocks according to LD structure. Although none of the single markers in LD block comprised of six SNPs (rs1782754, rs1171269, rs1022981, rs6673324, rs3790426 and rs1049338) was individually associated with waist circumference, haplotype A-C-A-A-G-A of this LD block showed the strongest association signal, p= 7.085 x 10-22. However, after permutation testing the result was found to be only marginally significant. Conclusion: Haplotype association analysis of CVD risk phenotypes show marginally significant association of LEPR gene only with waist circumference.

LEPR; LD; haplotype; CVD risk factors; Vis cohort

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