Korean J Bone Metab > Volume 16(1); 2009 > Article
Korean Journal of Bone Metabolism 2009;16(1):29-36.
Association Study of Cytochrome P450 3A5 Genotypes with Bone Mass in Koreans
한국 여성에서 Cytochrome P450 3A5 유전자 다형성과 골밀도의 관계
양문석,김도이,원현선,이수희,홍영호,이성자,김종수,박소영,김성훈,임창훈,윤현구,한기옥
관동의대 제일병원 내과
Abstract
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. [Korean Journal of Bone Metabolism, 16(1): 29-36, 2009]
Key Words: Cytochrome, CYP3A5, Polymorphism, Bone mineral density
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