Korean J Bone Metab > Volume 13(1); 2006 > Article
Korean Journal of Bone Metabolism 2006;13(1):41-48.
The Effect of TTTA Tandem Repeat in Intron 4 of CYP19 Aromatase Gene Polymorphism on Aromatase activity and Bone Turnover Markers in Korean Male Subjects
한국인 성인 남성에서 CYP 19 Aromatase 유전자의 인트론 4 TTTA 염기 반복 유전자다형성이 Aromatase 활성도와 골교체 표지자 농도에 미치는 영향
성균관의대 강북삼성병원 임상의학연구소, 내분비내과1
Estrogen seems to play an important role on the prevention of bone resorption even in males. In males, estrogen is produced through the conversion of testosterone via the action of aromatase in adipose tissue. Thus, the activity of aromatase could be a critical pathway in the development of osteoporosis in men. The authors observed the TTTA repeat in intron 4 of CYP19 aromatase gene in Korean males and analyzed its association with aromatase activity and bone turnover markers.
In 231 apparently healthy Korean males (mean age 41 years), total testosterone, estradiol and sex hormone binding globulin (SHBG) were measured and aromatase activity was assessed by dividing estradiol with testosterone levels (E2/T). Serum bone specific alkaline phosphatase (bsALP) and serum cross-linked C-telopeptide of type I collagen (ICTP) were measured as bone turnover markers, and free and bioavailable testosterone were calculated from measured sex hormones. The number of TTTA repeat was counted from sequenced PCR product. Result: The repeated sequence was categorized into 5 groups, that is, groups with 7 repeats, 9 repeats, 10 repeats, 11 repeats and 12 repeats, and the frequencies were 0.797, 0.026, 0.03, 0.139 and 0.009 for each allele. Analysis were performed in three genotype groups, that is, group with both alleles with 7 repeats, group with 1 allele with 7 repeats, and group with both alleles without 7 repeats. There were no statistically significant differences among the mean values of bone turnover markers, sex hormones or aromatase activity (E2/T) according to the genotype groups.
In Korean males, 7 repeats of TTTA was the most frequently observed in intron 4 of CYP19 aromatase gene. The number of TTTA repeat was not associated with bone turnover markers or aromatase activity indirectly reflected by E2/T in Korean males.
Key Words: CYP 19 polymorphism, Aromatase, TTTA repeat, Male osteoporosis
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