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芳香化酶()基因变体rs10046与绝经后女性心血管风险之间的关联。

Association between the aromatase () gene variant rs10046 and cardiovascular risk in postmenopausal women.

作者信息

Dos Santos Betânia Rodrigues, Casanova Gislaine, da Silva Thais Rasia, Oppermann Karen, Spritzer Poli Mara

机构信息

Unidade de Endocrinologia Ginecológica Hospital de Clínicas de Porto Alegre Divisão de Endocrinologia Porto AlegreRS Brasil Unidade de Endocrinologia Ginecológica, Divisão de Endocrinologia, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brasil.

Universidade Federal do Rio Grande do Sul Laboratório de Endocrinologia Molecular Departamento de Fisiologia Porto AlegreRS Brasil Laboratório de Endocrinologia Molecular, Departamento de Fisiologia, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brasil.

出版信息

Arch Endocrinol Metab. 2024 Nov 6;68(Spec Issue):e240087. doi: 10.20945/2359-4292-2024-0087. eCollection 2024.

Abstract

OBJECTIVE

To assess the genotypic and allelic distribution of the rs10046 polymorphism in the gene and evaluate whether this aromatase gene variant is associated with cardiovascular risk in postmenopausal women.

MATERIALS AND METHODS

This cross-sectional study analyzed repository-stored samples from 370 postmenopausal women aged 44-72 years. Clinical, metabolic, and hormonal data were collected. The patients' estimated 10-year atherosclerotic cardiovascular disease (ASCVD) risk was calculated using the ASCVD Risk Estimator Plus, as recommended by the American College of Cardiology/American Heart Association. Genotyping of the rs10046 polymorphism of the gene was carried out using real-time polymerase chain reaction with allelic discrimination assays.

RESULTS

The participants had a mean age of 56.07 ± 5.58 years and a mean body mass index (BMI) of 27.73 ± 5.41 kg/m². The 10-year ASCVD risk was estimated to be low, borderline, intermediate, and high in 64.7%, 12.8%, 19.8%, and 2.7% of the participants, respectively. The CC genotype of the rs10046 polymorphism was associated with low estradiol levels (p = 0.003) and high ASCVD scores (p = 0.014). In a multivariate model, age (p < 0.001) and CC genotype (p = 0.021) were independently associated with higher ASCVD risk.

CONCLUSION

The present study found that the CC genotype of the rs10046 polymorphism in the gene is associated with low estradiol levels and an increased ASCVD risk. Additionally, the results indicated that, among postmenopausal women, age and the CC genotype of rs10046 were associated with a high prevalence of ASCVD risk, independent of BMI.

摘要

目的

评估该基因中rs10046多态性的基因型和等位基因分布,并评估这种芳香化酶基因变异是否与绝经后女性的心血管风险相关。

材料与方法

这项横断面研究分析了370名年龄在44 - 72岁的绝经后女性的储存样本。收集了临床、代谢和激素数据。根据美国心脏病学会/美国心脏协会的建议,使用动脉粥样硬化性心血管疾病(ASCVD)风险评估器升级版计算患者估计的10年动脉粥样硬化性心血管疾病(ASCVD)风险。使用带有等位基因鉴别分析的实时聚合酶链反应对该基因的rs10046多态性进行基因分型。

结果

参与者的平均年龄为56.07±5.58岁,平均体重指数(BMI)为27.73±5.41kg/m²。分别有64.7%、12.8%、19.8%和2.7%的参与者估计10年ASCVD风险为低、临界、中等和高。rs10046多态性的CC基因型与低雌二醇水平(p = 0.003)和高ASCVD评分(p = 0.014)相关。在多变量模型中,年龄(p < 0.001)和CC基因型(p = 0.021)与较高的ASCVD风险独立相关。

结论

本研究发现该基因中rs10046多态性的CC基因型与低雌二醇水平和ASCVD风险增加相关。此外,结果表明,在绝经后女性中,年龄和rs10046的CC基因型与ASCVD风险的高患病率相关,且独立于BMI。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e0a/11771756/58e209a7a3eb/2359-4292-aem-68-spe-e240087-gf01.jpg

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