Valero C, Pérez-Castrillón J L, Zarrabeitia M T, Hernández J L, Alonso M A, del Pino-Montes J, Olmos J M, González-Macías J, Riancho J A
Department of Internal Medicine, Hospital U.M. Valdecilla, University of Cantabria, 39008 Santander, Spain.
Osteoporos Int. 2008 Jun;19(6):787-92. doi: 10.1007/s00198-007-0491-0.
Two polymorphisms of the aromatase and estrogen receptor genes appeared to interact to influence the risk of hip fractures in women.
Allelic variants of the aromatase gene have been associated with bone mineral density and vertebral fractures. Our objective was to analyze the relationship between two polymorphisms of the aromatase and estrogen receptor genes and hip fractures.
We studied 498 women with hip fractures and 356 controls. A C/G polymorphism of the aromatase gene and a T/C polymorphism of the estrogen receptor alpha gene were analyzed using Taqman assays. Aromatase gene expression was determined in 43 femoral neck samples by real-time RT-PCR.
There were no significant differences in the overall distribution of genotypes between the fracture and control groups. However, among women with a TT genotype of the estrogen receptor, the CC aromatase genotype was more frequent in women with fractures than in controls (39 vs. 23%, p = 0.009). Thus, women homozygous for T alleles of estrogen receptor and C alleles of aromatase were at increased risk of fracture (odds ratio 2.0; 95% confidence interval 1.2-3.4). The aromatase polymorphism was associated with RNA levels in bone tissue, which were three times lower in samples with a CC genotype (p = 0.009).
These common polymorphisms of the aromatase and estrogen receptor genes appear to interact, influencing the risk of hip fractures in women.
芳香化酶和雌激素受体基因的两种多态性似乎相互作用，影响女性髋部骨折风险。
芳香化酶基因的等位基因变异与骨密度和椎体骨折有关。我们的目的是分析芳香化酶和雌激素受体基因的两种多态性与髋部骨折之间的关系。
我们研究了498例髋部骨折女性和356例对照。使用Taqman分析方法分析芳香化酶基因的C/G多态性和雌激素受体α基因的T/C多态性。通过实时逆转录聚合酶链反应（RT-PCR）测定43份股骨颈样本中的芳香化酶基因表达。
骨折组和对照组之间基因型的总体分布没有显著差异。然而，在雌激素受体TT基因型的女性中，骨折女性的CC芳香化酶基因型比对照组更常见（39%对23%，p = 0.009）。因此，雌激素受体T等位基因和芳香化酶C等位基因纯合的女性骨折风险增加（比值比2.0；95%置信区间1.2 - 3.4）。芳香化酶多态性与骨组织中的RNA水平相关，CC基因型样本中的RNA水平低三倍（p = 0.009）。
芳香化酶和雌激素受体基因的这些常见多态性似乎相互作用，影响女性髋部骨折风险。
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