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KMID : 0438420090160010029
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Korean Journal of Bone Metabolism
2009 Volume.16 No. 1 p.29 ~ p.36
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Association Study of Cytochrome P450 3A5 Genotypes with Bone Mass in Koreans
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Yang Moon-Seok
Yoon Hyun-Koo
Park So-Young
Yim Chang-Hoon
Han Ki-Ok
Kim Sung-Hoon
Lee Su-Hee
Hong Young-Ho
Kim Do-Yi
Won Hyun-Sun
Lee Sung-Ja
Kim Joung-Soo
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Abstract
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Objective: This study was designed to analyze CYP3A5 genetic polymorphism in Korean women and to evaluate the association of the CYP3A5 genotype with bone mineral density (BMD).
Methods: Specific polymerase chain reaction-restriction fragment length polymorphism tests for CYP 3AP1 through CYP3A5*7 or direct sequencing were used to identify reported CYP3A5 variant alleles, using 194 unrelated samples. And the association of the CYP3A5 genotype with BMD in 2,178 women aged 40~79 years old was investigated.
Results: The most frequent single nucleotide polymorphism (SNP) was 6986A>G, which is responsible for CYP3A5*3. The next most frequent SNP was 31611C>T. Haplotype analysis using detected SNPs revealed that the most frequent haplotype was *3A (frequency: 0.724), followed by *1E (0.211), *3C (0.034) and *1A (0.023). CYP3AP1, CYP3A5*6, or *7 were not detected in our study. In 2,178 subjects, 62.7% possessed the CYP3A5*3/*3 genotype which is known to produce a non-functioning protein. A BMD difference, however, was not observed in women having whole CYP3A5 activity compared to women having deficient CYP3A5 activity.
Conclusion: Our data indicating no significant influence of CYP3A5 on bone metabolism suggest that the metabolic difference of CYP3A5 genotype may be counterbalanced by the major CYP3A such as CYP3A4.
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KEYWORD
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Cytochrome, CYP3A5, Polymorphism, Bone mineral density
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