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The distribution of single nucleotide polymorphisms in choline metabolism genes differ across ethnic populations
Author(s) -
Costa KerryAnn,
Zeisel Steven H
Publication year - 2009
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.23.1_supplement.725.7
Subject(s) - single nucleotide polymorphism , genetics , biology , allele , allele frequency , snp , gene , choline , population , polymorphism (computer science) , genotype , medicine , endocrinology , environmental health
While most of the choline humans need is derived from their diet, 15 ‐ 30% is synthesized de novo , catalyzed by the enzyme phosphatidylethanolamine N‐methyltransferase (PEMT). The gene for PEMT is polymorphic, and at least one variant has been shown to encode a protein with less PEMT activity. In previous studies, women possessing the PEMT single nucleotide polymorphism (SNP) rs12325817 were more susceptible to organ dysfunction when consuming a low choline diet. To examine the frequency of this G>C variation, DNA from Caucasian, Mexican and Asian Americans, as well as African‐Americans and individuals of African descent were genotyped using an allele‐specific PCR assay. In the Caucasian population tested (n= 113), the C allele occurred in 74% of the individuals, with 24% homozygous for the SNP. The C allele was also common in the Mexican Americans (n= 100) at 62% frequency, 12 % of which were homozygous. The SNP was less prevalent in the individuals of Asian (27%; n= 100) and African descent (20%; n= 108) with 1% and 0% homozygous for the C allele, respectively. Therefore, SNPs in genes of choline metabolism may alter the human requirement for this nutrient, and this requirement may vary across different populations. This research is supported by grants from NIH‐ DK55865, DK56350 and RR00046.