Department of Biological and Chemical Sciences, Faculty of Science and Technology, University of the West Indies Cave Hill Campus, Bridgetown, Barbados.
Mol Biol Rep. 2019 Jun;46(3):3299-3306. doi: 10.1007/s11033-019-04790-y. Epub 2019 Apr 13.
Uterine leiomyomas (UL) are prevalent benign tumors, especially among women of African ancestry. The disease also has genetic liability and is influenced by risk factors such as hormones and obesity. This study investigates the haplotypes of the Cytochrome P450 1B1 gene (CYP1B1) related to hormones and coiled-coil domain containing 57 gene (CCDC57) related to obesity in Afro-Caribbean females. Each haplotype was constructed from unphased sequence data using PHASE v.2.1 software and Haploview v.4.2 was used for linkage disequilibrium (LD) studies. There were contrasting LD observed among the single nucleotide polymorphisms of CYP1B1 and CCDC5. Accordingly, the GTA haplotype of CYP1B1 was significantly associated with UL risk (P = 0.02) while there was no association between CCDC57 haplotypes and UL (P = 0.2) for the ATG haplotype. As such, our findings suggest that the Asp449Asp polymorphism and GTA haplotype of CYP1B1 may contribute to UL susceptibility in women of Afro-Caribbean ancestry in this population.
子宫平滑肌瘤（UL）是常见的良性肿瘤，尤其在非洲裔女性中更为常见。该疾病也具有遗传易感性，并受激素和肥胖等风险因素的影响。本研究调查了与激素相关的细胞色素 P450 1B1 基因（CYP1B1）和与肥胖相关的卷曲螺旋域包含 57 基因（CCDC57）的单倍型在非裔加勒比女性中的情况。每个单倍型都是使用 PHASE v.2.1 软件从无相位序列数据构建的，并用 Haploview v.4.2 进行连锁不平衡（LD）研究。CYP1B1 和 CCDC57 的单核苷酸多态性之间存在相反的 LD。因此，CYP1B1 的 GTA 单倍型与 UL 风险显著相关（P=0.02），而 CCDC57 单倍型与 UL 无关（P=0.2）。因此，我们的研究结果表明，CYP1B1 的 Asp449Asp 多态性和 GTA 单倍型可能导致该人群中非裔加勒比女性的 UL 易感性。
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