Resumo

HERNANDEZ-ROMANO, Jesús; MARTINEZ-BARNETCHE, Jesús  e  VALVERDE-GARDUNO, Verónica. Polymorphisms in gene regulatory regions and their role in the physiopathology of complex disease in the post-genomic era. Salud pública Méx [online]. 2009, vol.51, suppl.3, pp.s455-s462. ISSN 0036-3634.

The genomic era is imparting a new impulse to the study of the role of genetic variation in susceptibility to disease. The most common type of genetic variation between individuals is single nucleotide polymorphisms (SNP). The association of SNPs with susceptibility to disease is the current focus of intense research. Recently, the study of SNPs that alter the regulatory mechanisms of gene expression (rSNP) has emerged as a promising field for understanding disease, since this type of variation can have a profound effect on human traits related to susceptibility to disease. The finding and functional characterization of biologically significant rSNPs is advancing our knowledge of genetic determinants for multifactorial disease.

Palavras-chave : gene expression regulation; genetic polymorphism; transcription; genetic variation; alleles; genetics [disease].

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