Estudio genético de la implicación del gen USF1 en el desarrollo del síndrome metabólico

Abstract

Introduction: Metabolic syndrome (MS) and familial combined hyperlipidemia (FCHL) share many clinical features and a partially overlapping etiology for these two entities has been postulated. The expression of these disorders may be affected by multiple genetic loci in addition to gene-environment interaction. This study explored the possible involvement of the USF1 gene, which has previously been associated with FCHL, in the development of MS. Methods: A case-control study was performed to analyze genetic variation in USF1 defined by SNPs rs2516837, rs2516838, rs6686076, rs2516839, rs2073653, rs2774276, rs2073656, rs2073658, and rs3737787. SNP genotypes were determined by pyrosequencing in 192 subjects with MS according to the Adult Treatment Panel (ATP)-III criteria and 197 control subjects. Allelic and genotypic frequencies were analyzed for each SNP isolated, and haplotypes were estimated for the combined polymorphisms. A statistical analysis was performed of the association of the SNPs and haplotypes with the development of MS. Results: The frequencies of the nine SNPs studied showed that they were in Hardy-Weinberg equilibrium in both cases and controls. There was a considerable degree of linkage disequilibrium between the SNPs but the differences in their distribution between cases and controls did not reach statistical significance. Estimation of the haplotypes of the SNPs analyzed in the study groups identified six main haplotypes, but none showed a statistically significant association with SM. Conclusions: In the sample of patients studied, no association was observed between genetic variation in the USF1 locus and the development of MS defined by ATP-III criteria. © 2010 Elsevier España, S.L. y SEA.