Gomes Mariano Tamura Vieira, Castro Rodrigo de Aquino, Villanova Fabiola Elizabeth, da Silva Ismael Dale Cotrim Guerreiro, Baracat Edmund Chada, de Lima Geraldo Rodrigues, Girão Manoel João Batista Castello
Department of Gynecology, Universidade Federal de São Paulo, São Paulo, Brazil.
Fertil Steril. 2007 May;87(5):1116-21. doi: 10.1016/j.fertnstert.2006.08.099. Epub 2007 Jan 16.
To assess the possible association between the polymorphic allele of the progesterone receptor gene, named PROGINS, and uterine leiomyomas.
Case-control study.
Department of Gynecology. Teaching hospital.
PATIENT(S): One hundred twenty-two premenopausal women with fibroids and 125 postmenopausal controls not presenting the disease.
INTERVENTION(S): The subjects were classified as White or non-White (Black and Mulatto) and the progesterone receptor genotyping was performed, with DNA extracted from uterus in cases and from peripheric blood in controls and submitted to polymerase chain reaction (PCR) and agarose gel electrophoresis.
MAIN OUTCOME MEASURE(S): The presence of the PROGINS allele was recorded, and its frequency as well as the genotypic distribution among cases and controls were compared according to race.
RESULT(S): PROGINS-positive genotypes (heterozygous or mutant homozygous) were found in 19% of White and 11% of non-White women, and allelic frequency of PROGINS in the groups was 10.4% and 6.2%, respectively. Comparing patients and controls, we observed a significant difference among non-White women, both regarding presence of PROGINS-positive genotypes (4.9% vs. 25%, respectively), and PROGINS allele frequency (3.3% vs. 12.5%, respectively). There was no significant difference in PROGINS-positive genotypes among White cases and controls (16.4% vs. 20.6%, respectively), and in their allelic frequency (8.2% vs. 11.9%, respectively). The odds ratio showed reduced risk of fibroids related to PROGINS-positive genotypes in non-White women (odds ratio = 0.16, 95% confidence interval: 0.04-0.66), but not among White subjects (odds ratio = 0.76, 95% confidence interval: 0.33-1.74).
CONCLUSION(S): The PROGINS polymorphism revealed to be protective in terms of uterine fibroids in Brazilian non-White women.
评估孕激素受体基因多态性等位基因（称为PROGINS）与子宫肌瘤之间可能存在的关联。
病例对照研究。
教学医院妇科。
122名患有肌瘤的绝经前女性和125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），并进行孕激素受体基因分型，病例组从子宫中提取DNA，对照组从外周血中提取DNA，然后进行聚合酶链反应（PCR）和琼脂糖凝胶电泳。
记录PROGINS等位基因的存在情况，并根据种族比较病例组和对照组中其频率以及基因型分布。
在19%的白人女性和11%的非白人女性中发现了PROGINS阳性基因型（杂合子或突变纯合子），两组中PROGINS的等位基因频率分别为10.4%和6.2%。比较患者和对照者，我们发现非白人女性在PROGINS阳性基因型的存在情况（分别为4.9%和25%）以及PROGINS等位基因频率（分别为3.3%和12.5%）方面存在显著差异。白人病例组和对照组在PROGINS阳性基因型方面（分别为16.4%和20.6%）及其等位基因频率方面（分别为8.2%和11.9%）均无显著差异。优势比显示，非白人女性中与PROGINS阳性基因型相关的肌瘤风险降低（优势比=0.16，95%置信区间：0.04 - 0.66），但白人受试者中并非如此（优势比=0.76，95%置信区间：0.33 - 1.74）。
在巴西非白人女性中，PROGINS多态性对子宫肌瘤具有保护作用。
