Drews Krzysztof, Seremak-Mrozikiewicz Agnieszka, Bartkowiak-Wieczorek Joanna, Pieńkowski Wojciech, Dubiel Mariusz, Mrozikiewicz Przemysław M
Klinika Perinatologii i Chorób Kobiecych, Katedry Perinatologii i Ginekologii AM w Poznaniu.
Ginekol Pol. 2005 Aug;76(8):612-8.
In recent years the influence of genetic factors in the pathogenesis of osteopenia and osteoporosis was indicated. The investigations focused on the gene coding for calcitonin receptor. The goal of our analysis was to determine the genotype frequencies of AluI polymorphism of the calcitonin receptor gene (CTR) in the group of Polish postmenopausal women and its possible contribution to osteoporosis development.
139 postmenopausal women with osteopenia (t-score value from -1.0 to -2.5) (mean age 58.5 +/- 5.9 years, mean age of menopause 49.8 +/- 3.9 years) have been investigated. AluI polymorphism of the CTR gene was determined using PCR/RFLP assay. We have analysed 3 subgroups: CC, CT, and TT. In each subgroup mean weight, height, body mass index (BMI), mean age of menopause and years since menopause (YSM) and parameters of bone turnover: bone mineral density (BMD), t-score, index: young adults (YA) and--age matched (AM) have been analysed. Additionally the group of 138 selected women (mean age 26.5 +/- 4.3 years) as general population has been analysed.
In investigated group the frequency of all 3 genotypes was determined as follows: CC: CT : TT = 8.6 : 45.3 : 46.1. Analysing BMD in particular subgroups the higher value for the CT genotype (0.967 +/- 0.161 g/cm2) was found. Similarly t-score (-1.94), YA (80.6%) and AM (90.8%) index were higher in CT genotype carriers.
Our results suggest possible connection of the AluI polymorphism of the CTR gene with osteopenia and osteoporosis development. To confirm this tendency further investigations in the large number population are necessary.
近年来,遗传因素在骨质减少和骨质疏松发病机制中的作用得到了证实。研究主要集中在降钙素受体编码基因上。我们分析的目的是确定波兰绝经后女性群体中降钙素受体基因(CTR)AluI多态性的基因型频率,以及其对骨质疏松发展的可能影响。
对139名骨质减少的绝经后女性(t值在-1.0至-2.5之间)(平均年龄58.5±5.9岁,平均绝经年龄49.8±3.9岁)进行了研究。采用PCR/RFLP分析法测定CTR基因的AluI多态性。我们分析了3个亚组:CC、CT和TT。对每个亚组的平均体重、身高、体重指数(BMI)、平均绝经年龄和绝经年限(YSM)以及骨转换参数:骨矿物质密度(BMD)、t值、青年成人(YA)指数和年龄匹配(AM)指数进行了分析。此外,还对138名选定的女性(平均年龄26.5±4.3岁)作为一般人群进行了分析。
在研究组中,所有3种基因型的频率如下:CC:CT:TT = 8.6:45.3:46.1。在特定亚组中分析BMD时,发现CT基因型的值较高(0.967±0.161 g/cm²)。同样,CT基因型携带者的t值(-1.94)、YA(80.6%)和AM(90.8%)指数也较高。
我们的结果表明CTR基因的AluI多态性与骨质减少和骨质疏松的发展可能存在关联。为证实这一趋势,有必要在大量人群中进行进一步研究。