Frequencies of two functionally significant SNPs and their haplotypes of organic anion transporting polypeptide ۱B۱ SLCO۱B۱ gene in six ethnic groups of Pakistani population
- سال انتشار: 1393
- محل انتشار: مجله علوم پایه پزشکی ایران، دوره: 17، شماره: 6
- کد COI اختصاصی: JR_IJBMS-17-6_008
- زبان مقاله: انگلیسی
- تعداد مشاهده: 272
نویسندگان
Department of Biochemistry and Molecular Biology, Centre for Research in Experimental and Applied Medicine (CREAM), Army Medical College, National University of Sciences & Technology (NUST), Islamabad, Pakistan
Department of Biochemistry and Molecular Biology, Centre for Research in Experimental and Applied Medicine (CREAM), Army Medical College, National University of Sciences & Technology (NUST), Islamabad, Pakistan
Department of Biochemistry and Molecular Biology, Centre for Research in Experimental and Applied Medicine (CREAM), Army Medical College, National University of Sciences & Technology (NUST), Islamabad, Pakistan
Department of Biochemistry and Molecular Biology, Centre for Research in Experimental and Applied Medicine (CREAM), Army Medical College, National University of Sciences & Technology (NUST), Islamabad, Pakistan
چکیده
Objective(s):Organic anion transporter polypeptide ۱B۱ (OATP۱B۱) encoded by solute carrier organic transporter ۱B۱ (SLCO۱B۱) gene; a transporter involved in the uptake of drugs and endogenous compounds is present in hepatocyte sinusoidal membrane. Aim of this study was to investigate the frequencies of functionally significant SNPs (۳۸۸A> G and ۵۲۱T> C) and their haplotypes in ۶ ethnic groups of Pakistani population through the development of rapid and efficient Tetra amplification refractory mutation system (T. ARMS) genotyping assay. Materials and Methods: Frequencies of alleles, genotype, and haplotypes of two functionally significant Single nucleotide polymorphism in ۱۸۰ healthy Pakistani subjects and distributions in six ethnic groups by using a single step T. ARMS genotyping assay. Results: The allelic frequency for ۳۸۸A> G SNP was ۵۰% in total Pakistani population with distributions of ۹.۷%, ۱۵.۱%, ۱۹.۴%, ۱۶.۱%, ۱۸.۳%, and ۲۱.۵% in Punjabi, Sindhi, Balouchi, Pathan, Kashmiri and Hazara/Baltistan groups respectively; and for ۵۲۱T> C SNP it was ۲۳.۹% in total Pakistani population with distributions of ۱۱.۱%, ۸.۹%, ۱۵.۶%, ۱۱.۱%, ۳۱.۱% and ۲۲.۲% in Punjabi, Sindhi, Balouchi, Pathan, Kashmiri, and Hazara/Baltistan groups. Both functionally significant SNPs occurred in four major haplotypes with a frequency of ۳۵.۵% for ۳۸۸A/۵۲۱T (*۱A), ۴۰.۵% for ۳۸۸G/۵۲۱T (*۱B), ۱۴.۴% for ۳۸۸A/۵۲۱C (*۵), and ۹.۴% for ۳۸۸G/۵۲۱C (*۱۵) with varying distributions among six ethnic groups. Conclusion: The ۳۸۸A> G and ۵۲۱T> C genotypes and corresponding haplotypes are present at varying frequencies in various ethnic groups of Pakistani population. Pharmacokinetic and pharmacodynamicکلیدواژه ها
Haplotype, OATP۱B۱, single nucleotide polymorphism, SLCO۱B۱اطلاعات بیشتر در مورد COI
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