de Oliveira Emerson, de Aquino Castro Rodrigo, Gomes Mariano Tamura Vieira, da Silva Ismael Dale Cotrim Guerreiro, Baracat Edmund Chada, de Lima Geraldo Rodrigues, Sartori Marair Gracio Ferreira, Girão Manoel João Batista Castello
Department of Gynecology, Federal University of São Paulo - UNIFESP, Rua dos Otonis, 601, Vila Clementino 040625-001, São Paulo, Brazil.
Maturitas. 2008 Jul-Aug;60(3-4):235-8. doi: 10.1016/j.maturitas.2008.07.001. Epub 2008 Aug 26.
To assess the possible association between the catechol-O-methyltransferase (COMT) polymorphism and uterine fibroids in Brazilian women.
Case-control study.
Department of Gynecology; teaching hospital.
PATIENT(S): One hundred twenty-four premenopausal women with fibroids, and 193 postmenopausal controls not presenting the disease.
INTERVENTION(S): The subjects were classified as white or non-white (black and mulatto), and COMT genotypes were determined. DNA was extracted from the uterus of cases and from peripheral blood of controls and submitted to polymerase chain reaction (PCR) and agarose gel electrophoresis.
MAIN OUTCOME MEASURE(S): The presence of the COMT polymorphism was recorded for all patients, and the frequency and distribution among cases and controls were compared according to race. Binomial log regression models were used to estimate odds-ratios (OR) for uterine volumes of <290 cm(3) (small fibroids) vs. those >290 cm(3) (large fibroids). Potential confounding variables (age, race and parity) were added to the model.
Genotypes positive for the COMT polymorphism (heterozygous or mutant homozygous) were found in 45% of white and 28.9% of non-white women (p = .013) and the polymorphic allele frequencies in these groups were 27.2% and 16.3%, respectively (p = .006). However, there were no clear differences between patients and controls within the white subgroup with regard to the presence of COMT polymorphism-containing genotypes (41.5% vs. 46.0%, respectively) (p = .60), or for the polymorphic allele frequency (26.8% vs. 27.3%, respectively) (p = .92). For non-white women, there were also no differences between cases and controls for the frequency of polymorphic genotypes (28.9% vs. 28.9%, respectively) (p = .995), or for the polymorphic allele frequency (17.8 vs. 14.5, respectively) (p = .565). Estimated OR for small or large fibroids in association with the polymorphic allele revealed a positive association between the allele with lower activity and large fibroids (vs. small) (OR = 3.3; 95% confidence interval [CI] = 1.31-8.46). The adjusted OR was 4.35 (95% confidence interval [CI] = 1.58-11.9).
The catechol-O-methyltransferase polymorphism is a risk factor for the development of large uterine fibroids in Brazilian women suffering from fibroids.
评估儿茶酚-O-甲基转移酶（COMT）基因多态性与巴西女性子宫肌瘤之间的可能关联。
病例对照研究。
妇科；教学医院。
124名患有肌瘤的绝经前女性，以及193名未患该病的绝经后对照者。
将受试者分为白人或非白人（黑人及混血儿），并确定COMT基因型。从病例的子宫和对照者的外周血中提取DNA，进行聚合酶链反应（PCR）和琼脂糖凝胶电泳。
记录所有患者的COMT基因多态性情况，并根据种族比较病例组和对照组中的频率及分布。使用二项式对数回归模型估计子宫体积<290 cm³（小肌瘤）与>290 cm³（大肌瘤）的比值比（OR）。将潜在的混杂变量（年龄、种族和产次）纳入模型。
在45%的白人女性和28.9%的非白人女性中发现了COMT基因多态性阳性基因型（杂合子或突变纯合子）（p = 0.013），这些组中的多态性等位基因频率分别为27.2%和16.3%（p = 0.006）。然而，在白人亚组中，病例组和对照组在含COMT基因多态性基因型的存在方面（分别为41.5%和46.0%）（p = 0.60），或多态性等位基因频率方面（分别为26.8%和27.3%）（p = 0.92）没有明显差异。对于非白人女性，病例组和对照组在多态性基因型频率方面（分别为28.9%和28.9%）（p = 0.995），或多态性等位基因频率方面（分别为17.8和14.5）（p = 0.565）也没有差异。与多态性等位基因相关的小肌瘤或大肌瘤的估计OR显示，活性较低的等位基因与大肌瘤（相对于小肌瘤）之间存在正相关（OR = 3.3；95%置信区间[CI] = 1.31 - 8.46）。调整后的OR为4.35（95%置信区间[CI] = 1.58 - 11.9）。
儿茶酚-O-甲基转移酶基因多态性是患有肌瘤的巴西女性发生大子宫肌瘤的一个危险因素。
