Cetani F, Pardi E, Borsari S, Vignali E, Dipollina G, Braga V, Adami S, Pinchera A, Marcocci C
Dipartimento di Endocrinologia e Metabolismo, Ortopedia e Traumatologia, Medicina del Lavoro, Universita di Pisa, Pisa, Italy.
Eur J Endocrinol. 2003 Jun;148(6):603-7. doi: 10.1530/eje.0.1480603.
Calcium-sensing receptor (CaR) is a candidate gene for osteoporosis susceptibility. Several CaR polymorphisms have been identified and an association between the A986S genotype and serum calcium levels has been found in Canadian postmenopausal women. We investigated whether the presence of 986S allele was associated with bone mineral density (BMD) and osteoporotic fractures.
The study group consisted of 164 Italian postmenopausal women without fragility fracture (Fx(-)) and 55 women with fracture (Fx(+)).
A fragment of exon 7 of CaR gene containing three polymorphisms (A986S, R990G and Q1011E) was amplified by PCR and sequenced. Anthropometric characteristics and BMD were evaluated.
The A986S polymorphism was the most commonly observed (27.9%), whereas the other two CaR polymorphisms, R990G and Q1011E, occurred in a minority of cases (8.8 and 5.5% respectively). There was no significant difference in the frequency distribution of any CaR allele between Fx(-) and Fx(+) patients. Body mass index was found to predict BMD at the lumbar spine and femoral neck. The A986S polymorphism and Years since menopause were not independent predictors of BMD at any site. As far as fracture occurrence, there was no statistically significant difference in the prevalence of fractures between women carrying or not carrying the 986S allele.
Our data do not support a role of A986S CaR polymorphism in BMD and in the prevalence of fragility fractures in Italian postmenopausal women.
钙敏感受体（CaR）是骨质疏松易感性的候选基因。已鉴定出几种CaR多态性，并且在加拿大绝经后妇女中发现A986S基因型与血清钙水平之间存在关联。我们调查了986S等位基因的存在是否与骨密度（BMD）和骨质疏松性骨折相关。
研究组由164名无脆性骨折的意大利绝经后妇女（Fx(-)）和55名有骨折的妇女（Fx(+)）组成。
通过PCR扩增并测序包含三个多态性（A986S、R990G和Q1011E）的CaR基因第7外显子片段。评估人体测量学特征和骨密度。
A986S多态性是最常见的（27.9%），而其他两种CaR多态性R990G和Q1011E发生的病例较少（分别为8.8%和5.5%）。Fx(-)和Fx(+)患者之间任何CaR等位基因的频率分布没有显著差异。发现体重指数可预测腰椎和股骨颈的骨密度。A986S多态性和绝经年限不是任何部位骨密度的独立预测因素。就骨折发生情况而言，携带或不携带986S等位基因的女性之间骨折患病率没有统计学上的显著差异。
我们的数据不支持A986S CaR多态性在意大利绝经后妇女的骨密度和脆性骨折患病率中起作用。
Zotero 插件