Association of the estrogen receptor α gene polymorphisms with osteoporosis in the Mexican population

Abstract

The estrogen receptor gene (ER alpha) has been implicated in the development of osteoporosis. In this study, the association of two ER alpha gene polymorphic markers (a TA dinucleotide repeat and a single nucleotide polymorphism, G2014A) with osteoporosis was tested in 70 osteoporotic women, 70 non-osteoporotic women and 500 subjects from the Mexican population. According to the genetic analysis of the Mexican population using eight unlinked polymorphic markers, we found that our population is structured into three subpopulations; therefore, the allele-phenotype relationship was analyzed with a statistical method that considered population stratification. We found that the G2014A polymorphism is associated with the presence of osteoporosis while the TA dinucleotide repeat is not. The G allele and the GG genotype frequencies of the G2014A marker were significantly higher in osteoporotic than in non-osteoporotic women. Likewise, subjects bearing the G allele in heterozygous or homozygous displayed lower values for lumbar bone mineral density and T score than those who did not present any G allele. The effect of confounders for osteoporosis on the association of G allele-osteoporosis was ruled out. In summary, we conclude that the G2014 polymorphism may become a useful marker for genetic studies of osteoporosis in the Mexican population.

Relationship Between Polymorphism in Exon 8 of Estrogen Receptor Alpha Gene and Osteoporosis in Saudi Women

“…Indeed, according to epidemiological studies, the correlation between BMI and bone mass remains unclear, while another group of studies found that higher BMI was correlated with high bone mass. Furthermore, adipocytes are important sources of estrogen in women for inhibiting bone resorption [45][46][47]. Thus, we found a correlation between estrogen and BMI in the nonosteoporotic group, although the correlation was weak (r=0.21789); these results support that estrogen levels are involved in the complex relationship between BMI and osteoporosis.…”

WNT3A gene polymorphisms are associated with bone mineral density variation in postmenopausal mestizo women of an urban Mexican population: findings of a pathway-based high-density single nucleotide screening

“…In the Mexican population, specific genetic factors of BMD variation remain largely unknown as only a few candidate gene studies have been reported in reduced samples and/or analyzing few SNPs (Lisker et al 2003;Gómez et al 2007;Magaña et al 2008;Falcón-Ramírez et al 2011;Rojano-Mejía et al 2013;Falcón-Ramírez et al 2013). The aim of the present study was to seek associations of Wnt pathway gene variants with BMD at various skeletal sites in Mexican mestizo postmenopausal women.…”

Association of genetic polymorphisms of ER-α and the estradiol-synthesizing enzyme genes CYP17 and CYP19 with breast cancer risk in Chinese women

“…There are several polymorphisms in the ER-a gene that have been shown to be associated with the risk of breast cancer [15]. The SNPs in the 3 0 UTR have been associated with risks of a number of diseases including osteoporosis [2]. The 3 0 UTR contains many AU-rich elements that are likely to play a role in the destabilization of ER-a mRNA [16], and thus these polymorphisms may regulate mRNA stability and the ER-a gene expression.…”

“…Epidemiologic and experimental studies have concluded that estrogen plays an important role in the pathogenesis and progression of breast cancer [1]. An analysis of nine prospective studies showed that the levels of circulating estradiol are strongly associated with breast cancer risk in postmenopausal women [2]. Estrogen has been shown to contribute to breast cancer risk through its metabolites that are genotoxic and mutagenic, stimulating tissue growth.…”