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巴巴多斯子宫平滑肌瘤的CYP17α基因多态性分布及选定的理化因素

Distribution of CYP17α polymorphism and selected physiochemical factors of uterine leiomyoma in Barbados.

作者信息

Alleyne Angela T, Austin Shane, Williams Angela

机构信息

Department of Biological and Chemical Sciences, Faculty of Science and Technology, University of the West Indies Cave Hill Campus, Bridgetown BB1100, Barbados.

Department of Biological and Chemical Sciences, Faculty of Science and Technology, University of the West Indies Cave Hill Campus, Bridgetown BB1100, Barbados, ; ChemScreen Clinical Laboratory, Bridgetown, Barbados.

出版信息

Meta Gene. 2014 May 9;2:358-65. doi: 10.1016/j.mgene.2014.03.006. eCollection 2014 Dec.

Abstract

Uterine leiomyoma is a major reproductive health disease among women and in particular Black women. The present study sought to determine whether a single nucleotide polymorphism (SNP) of CYP17 (rs743572) was associated with the risk of developing uterine leiomyoma (UL) in affected women in Barbados; a majority Black population. It also sought to determine if BMI, waist circumference and oestradiol levels were associated with UL in this group. A total of 96 random persons were assessed in a case-control study using a PCR-RFLP assay, and measurements of body mass index, waist circumference, and oestradiol levels were also assessed. Our results showed no genetic association with the risk of UL and this gene. The genetic distribution of CYP 17α- alleles resembled a normal Hardy-Weinberg distribution, and a relatively low risk of 0.25 at a confidence interval at 95%, of UL disease development. However, a significant association was found between oestradiol levels and fibroids, as well as oestradiol levels and BMI, at P < 0.05 among cases. Therefore our study indicates that significant associations between physiochemical factors comprising BMI, waist circumference, and oestrogen levels are disease indicators in this population. In conclusion, our findings suggest that obesity and its associated risk factors are important in a majority Black Caribbean population, although the sample size needs to be increased.

摘要

子宫肌瘤是女性尤其是黑人女性中的一种主要生殖健康疾病。本研究旨在确定细胞色素P450 17α(CYP17,rs743572)的单核苷酸多态性是否与巴巴多斯受影响女性(主要为黑人)患子宫肌瘤(UL)的风险相关。研究还试图确定该群体中体重指数(BMI)、腰围和雌二醇水平是否与子宫肌瘤相关。在一项病例对照研究中,使用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)对总共96名随机个体进行了评估,同时还评估了体重指数、腰围和雌二醇水平的测量值。我们的结果显示该基因与患子宫肌瘤的风险无遗传关联。CYP 17α等位基因的遗传分布类似正常的哈迪-温伯格分布,在95%置信区间下子宫肌瘤疾病发展的相对风险为0.25。然而,在病例组中,发现雌二醇水平与肌瘤以及雌二醇水平与BMI之间存在显著关联,P<0.05。因此,我们的研究表明,包括BMI、腰围和雌激素水平在内的理化因素之间的显著关联是该人群中疾病的指标。总之,我们的研究结果表明,肥胖及其相关风险因素在大多数加勒比黑人人群中很重要,尽管样本量需要增加。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9645/4287806/b544a4eb04d8/gr1.jpg

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