Allele frequency of a 22-bp insertion/deletion polymorphism of FADS2 in a U.S. population (831.6)

Introduction. Fatty acid desaturase 2 (FADS2) is a critical rate limiting enzyme in the biosynthesis of long chain polyunsaturated fatty acids (LCPUFA). Recently, we identified a 22 bp insertion/deletion (INDEL) polymorphism within FADS2 intron 1 near a sterol response element to be associated with desaturase expression depending on levels of SREBP-1c agonists. Cultured lymphocytes from individuals (n=16 Japanese) homozygous for 22 bp deletion (D/D, n=5) showed stronger upregulation of both FADS1 and FADS2 in response to simvastatin. Little is known of the prevalence of this INDEL apart from these 16 Japanese participants. Our aim was to investigate the allele frequency of the INDEL in US residents from 311 opportunistic human samples originating from numerous sites. Methods. A 629 base pair portion of FADS2 intron 1 flanking the sterol regulatory element DNA sequence was amplified by PCR. Amplicons were separated on 2% agarose gels to indentify INDEL genotypes. Results. We identified three genotypes (D/D...