Single Nucleotide Polymorphisms in SULT1A1 and SULT1A2 in a Korean Population
| Autor: | Jae-Gook Shin, Yang-Weon Kim, Woo-Young Kim, Yazun Jarrar, Sang Seop Lee, Su-Jun Lee |
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| Rok vydání: | 2013 |
| Předmět: |
Pharmacology
Genetics Untranslated region Linkage disequilibrium Haplotype Intron Pharmaceutical Science Single-nucleotide polymorphism Biology Arylsulfotransferase Polymorphism Single Nucleotide Null allele Linkage Disequilibrium Exon Asian People Republic of Korea Ethnicity Humans Pharmacology (medical) Gene |
| Zdroj: | Drug Metabolism and Pharmacokinetics. 28:372-377 |
| ISSN: | 1347-4367 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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