Yilmaz M B, Pazarbasi A, Guzel A I, Kocaturk-Sel S, Kasap H, Kasap M, Urunsak I F, Basaran S, Alptekin D, Demirhan O
Department of Medical Biology and Genetics, Faculty of Medicine, University of Cukurova, Adana, Turkey.
Genet Mol Res. 2011 Sep 9;10(3):1999-2008. doi: 10.4238/vol10-3gmr1204.
Many clinical conditions, including osteoporosis, are associated with serum levels of sex steroids. Enzymes that regulate rate-limiting steps of steroidogenic pathways, such as CYP17 and CYP19, are also regarded as significant factors that may cause the development of these conditions. We investigated the association of two common polymorphisms, in the promoter region (T→C substitution) of CYP17 and exon 3 (G→A) of CYP19, with bone mineral density (BMD) in the lumbar spine and femoral neck and serum androgen/estradiol, in a case-control study of 172 postmenopausal women aged 62.3 ± 9.6 years (mean ± SD). The CYP17 TC genotype was significantly overrepresented in patients compared to controls, and TC genotype neck T-score and lumbar T-score values were significantly higher in patients compared to controls. CYP17 TC and TT genotype testosterone and DHEA-SO(4) levels were lower in patients compared to controls. All three genotypes of CYP19 had almost the same distribution among patients. The CYP19 AG genotype, however, was most frequent among controls. CYP19 lumbar BMD levels were close to each other among the different genotypes; however, AA and AG genotypes were significantly lower in patients. Testosterone and DHEA-SO(4) levels in the CYP19 GG genotype were higher compared to those of the other genotypes in patients but not in controls. CYP19 GA individuals had lower E(2) levels and lower BMD in controls and patients. Femoral neck BMD and lumbar T-score were also diminished with GA transition. In conclusion, CYP17 and CYP19 gene polymorphisms were found to be associated with osteoporosis in postmenopausal women in Turkey.
包括骨质疏松症在内的许多临床病症都与血清性激素水平有关。调节类固醇生成途径限速步骤的酶，如CYP17和CYP19，也被视为可能导致这些病症发生的重要因素。在一项针对172名年龄为62.3±9.6岁（均值±标准差）的绝经后女性的病例对照研究中，我们调查了CYP17启动子区域（T→C替换）和CYP19外显子3（G→A）的两种常见多态性与腰椎和股骨颈骨密度（BMD）以及血清雄激素/雌二醇之间的关联。与对照组相比，患者中CYP17 TC基因型的比例显著过高，且患者的TC基因型股骨颈T评分和腰椎T评分值显著高于对照组。与对照组相比，患者中CYP17 TC和TT基因型的睾酮和硫酸脱氢表雄酮（DHEA-SO(4)）水平较低。CYP19的所有三种基因型在患者中的分布几乎相同。然而，CYP19 AG基因型在对照组中最为常见。不同基因型的CYP19腰椎BMD水平相近；然而，患者中AA和AG基因型显著较低。患者中CYP19 GG基因型的睾酮和DHEA-SO(4)水平高于其他基因型，但在对照组中并非如此。CYP19 GA个体在对照组和患者中的雌二醇（E(2)）水平较低且BMD较低。随着GA转变，股骨颈BMD和腰椎T评分也降低。总之，在土耳其绝经后女性中发现CYP17和CYP19基因多态性与骨质疏松症有关。
