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Allele frequency of a 22‐bp insertion/deletion polymorphism of FADS2 in a U.S. population (831.6)
Author(s) -
Kothapalli Kumar,
Carlson Susan,
O'Brien Kimberly,
Ojukwu Kinsley,
Zou James,
Hyon Stephanie,
RanRessler Rinat,
Brenna James Thomas
Publication year - 2014
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.28.1_supplement.831.6
Subject(s) - fads2 , indel , genetics , allele , biology , genotype , allele frequency , population , indel mutation , intron , gene , single nucleotide polymorphism , polyunsaturated fatty acid , medicine , biochemistry , fatty acid , docosahexaenoic acid , environmental health
. 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), (I/D), (I/I) for the 22 bp INDEL for each individual. Our data shows D/D alleles in 43% (n=134), I/D alleles in 39% (n=120) and I/I alleles in 18% (n=57). Conclusion. A high frequency (43%) of D/D genotype is found in US population, when compared to Japanese (24%). Our data indicate that the deletion genotype is prevalent and may contribute to individual variability in response to LCPUFA consumption or statins. Grant Funding Source : NIH R01AT007003