Single Nucleotide Polymorphisms in SULT1A1 and SULT1A2 in a Korean Population
pmid: 23358261
Single Nucleotide Polymorphisms in SULT1A1 and SULT1A2 in a Korean Population
SULT1A1 and SULT1A2 are encoded on the same chromatid, and exhibit a 96% amino acid similarity. To screen for genetic variants in these two closely related genes, SULT1A1 and SULT1A2 were directly sequenced in 50 healthy Koreans. A total of 30 variations were identified in SULT1A1: eight in exons, thirteen in introns, and nine in the 5'-untranslated region. With regard to SULT1A2, 21 variants were identified, comprising seven in exons, five in introns, and nine in the 5'-untranslated region. Among these 51 variations, one in SULT1A1 and eight in SULT1A2 were previously unidentified, which include three coding variants (SULT1A2 R37Q, 110G>A; SULT1A2 G50S, 148G>A; SULT1A2 F286L, 3819C>A) and one null allele (SULT1A2 E217Stop, 3542G>T). Two LD blocks, major haplotype structures, and 7 haplotype-tagging SNPs were determined together for SULT1A1 and SULT1A2 as a single set. Frequencies of common functional variants were compared among ethnic groups. Since these two SULT enzymes are on the same chromatid in a parallel direction with overlapping substrate specificities, a combined analysis using LD and haplotype-tagging single-nucleotide polymorphisms (SNPs) will facilitate understanding of the variations in the sulfation reactions of a wide range of substrates, as compared with analysis of individual genes.
- Inje University Busan Paik Hospital Korea (Republic of)
- Inje University Korea (Republic of)
Asian People, Republic of Korea, Ethnicity, Humans, Arylsulfotransferase, Polymorphism, Single Nucleotide, Linkage Disequilibrium
Asian People, Republic of Korea, Ethnicity, Humans, Arylsulfotransferase, Polymorphism, Single Nucleotide, Linkage Disequilibrium
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