Polymorphisms and linkage disequilibrium of the OATP8 (OATP1B3) gene in Japanese subjects.

Content Provider	Semantic Scholar
Author	Tsujimoto, Masayuki Hirata, Sumio Dan, Yukihiko Ohtani, Hisakazu Sawada, Yasufumi
Copyright Year	2006
Abstract	OATP8, a member of the organic anion-transporting polypeptide family, is expressed on the sinusoidal membrane of hepatocytes, and transports endogenous organic anions, such as 17beta-glucuronosyl estradiol, and xenobiotic substances, such as digoxin. The objective of this study is to search for polymorphisms of the OATP8 gene and to assess the allele frequency of the polymorphisms in the Japanese population. Analysis of the OATP8 gene in 79 subjects revealed complete linkage of two deletion polymorphisms in the 5' regulatory region, deletion from position -28 to -11 and deletion from position -7 to -4, with an allele frequency of 0.196 for the deletion allele. The polymorphisms T334G (Ser112Ala) and G699A (Met233Ile) were also shown to be in complete linkage disequilibrium, with an allele frequency of 0.728 for the variant (112Ala/233Ile) allele. Interestingly, linkage disequilibrium was identified between the ins/del polymorphism and SNPs at 112 and 233. The predicted major haplotype was the insert-variant type with a haplotype frequency of 0.60.
File Format	PDF HTM / HTML
Alternate Webpage(s)	https://www.jstage.jst.go.jp/article/dmpk/21/2/21_2_165/_pdf
PubMed reference number	16702737v1
Volume Number	21
Issue Number	2
Journal	Drug metabolism and pharmacokinetics
Language	English
Access Restriction	Open
Subject Keyword	Anions Chromosome Deletion Chromosome Mapping Complete Linkage Cluster Analysis Deletion Mutation Digoxin Estradiol Gene Frequency Genetic Polymorphism Haplotypes Linkage Disequilibrium Mobility aid Organic Anion Transport Polypeptides Regulatory Sequences, Nucleic Acid SLCO1B3 gene Seventy Nine Single Nucleotide Polymorphism Tissue membrane genetic linkage
Content Type	Text
Resource Type	Article