Hubacek Jaroslav A, Weichetova Marketa, Bohuslavova Romana, Skodova Zdena, Stepan Jan J, Adamkova Vera
Institute for Clincal and Experimental Medicine, Prague, Czech Republic.
Endocr Regul. 2006 Dec;40(4):107-12.
The aim of this study was to examine whether variants in genes for transforming growth factor beta1 (TGF-beta1; Leu10>Pro and Arg25>Pro), plasminogen activator inhibitor 1 (PAI-1; 4G>5G variant) and collagen 1 (COL1A1; Sp1 variant) may be useful in identifying individuals with increased susceptibility to early postmenopausal bone loss within the population of Czech women.
Polymorphisms were genotyped (by PCR and restriction analysis) in 1400 females representatively selected from the Czech population as well as in 218 postmenopausal osteoporotic women 40-70 years of age (mean age 58,7 years) and a 151 postmenopausal females within the same age range (mean age 59,1 years) with normal BMD.
We have not found any statistically significant differences in the frequency of individual genotypes or alleles of analyzed variants between the groups of osteoporotic patients (OP), population group (PG) and control group (CG). The frequency of the individual genotypes in the analyzed groups was as follows 1) TGF-beta1 gene: Leu10Leu10 OP 30.2 %, PG 35.6 %, CG 35.1 %; Leu10Pro10 OP 52.1 %, PG 47.1 %, CG 50.0 %; Pro10Pro10 OP 17.7 %, PG 17.3 %, CG 14.9 %; 2) TGF-beta1 gene Arg25 homozygotes OP 83.8 %, PG 86.1%, CG 89.3 %, Pro25 carriers OP 16.2 %, PG 13.9 %, CG 10.7 %, 3) PAI-1 gene: 4G4G OP 34.9 %, PG 31.8, CG 28.5 %, 5G4G OP 43.6 %, PG 46.7 %, CG 50.3 %, 5G5G OP 21.5 %, PG 21.5%, CG 21.2%, and 4) COL1A-1 ("SS" homozygotes, OP 63.0%, PG 63.7%, CG 64.6 %, "s" carriers OP 37.0 %, PG 36.3 %, CG 35.1 %).
Variants in genes for TGF-beta1 (Leu10>Pro and Arg25>Pro), PAI-1 (4G>5G) and COL1A1 (Sp1 variant) are not associated with low BMD in postmenopausal Czech Caucasian females.
本研究旨在探讨转化生长因子β1（TGF-β1；Leu10>Pro和Arg25>Pro）、纤溶酶原激活物抑制剂1（PAI-1；4G>5G变异）和胶原蛋白1（COL1A1；Sp1变异）基因中的变异是否有助于在捷克女性人群中识别绝经后早期骨质流失易感性增加的个体。
对从捷克人群中代表性选取的1400名女性、218名40 - 70岁（平均年龄58.7岁）的绝经后骨质疏松女性以及151名相同年龄范围（平均年龄59.1岁）且骨密度正常的绝经后女性进行多态性基因分型（通过聚合酶链反应和限制性分析）。
我们未发现骨质疏松患者组（OP）、人群组（PG）和对照组（CG）之间分析变异的个体基因型或等位基因频率存在任何统计学上的显著差异。分析组中个体基因型的频率如下：1）TGF-β1基因：Leu10Leu10，OP组为30.2%，PG组为35.6%，CG组为35.1%；Leu10Pro10，OP组为52.1%，PG组为47.1%，CG组为50.0%；Pro10Pro10，OP组为17.7%，PG组为17.3%，CG组为14.9%；2）TGF-β1基因Arg25纯合子，OP组为83.8%，PG组为86.1%，CG组为89.3%；Pro25携带者，OP组为l6.2%，PG组为13.9%，CG组为10.7%；3）PAI-1基因：4G4G，OP组为34.9%，PG组为31.8%；CG组为28.5%；5G4G，OP组为43.6%，PG组为46.7%，CG组为50.3%；5G5G，OP组为21.5%，PG组为21.5%，CG组为21.2%；4）COL1A-1（“SS”纯合子，OP组为63.0%，PG组为63.7%，CG组为64.6%；“s”携带者，OP组为37.0%，PG组为3l6·3%，CG组为35.1%）。
TGF-β1（Leu10>Pro和Arg25>Pro）、PAI-1（4G>5G）和COL1A1（Sp1变异）基因中的变异与绝经后捷克白种女性的低骨密度无关。
