Department of Gynecology, Universidade Federal de São Paulo, Escola Paulista de Medicina UNIFESP/EPM, São Paulo, Brazil.
Gynecol Endocrinol. 2012 Jun;28(6):443-6. doi: 10.3109/09513590.2011.614115. Epub 2012 Mar 29.
To study the prevalence of breast cysts in several age groups of the general female population and their association with the MspAI polymorphism of the gene CYP17.
In 204 ultrasound tests, cysts were present in 22% of the studied population. The epidemiological-clinical profile of these women was Caucasian, aged 41-50 years, regular menstrual cycles, multiparous and complaining of mastalgia. The genetic distribution of polymorphisms of the gene displayed Hardy-Weinberg equilibrium and the wild homozygous phenotype was observed in 36.4% of the case group and in 37.6% of the control groups; the heterozygous phenotype was observed in 50% of the study group and 46.3% of control group and a mutated homozygous phenotype was seen in 13.6% of the study group and 16.1% of the controls. There was no statistically significant difference between the groups (p = 0.92).
The prevalence and most of the epidemiological profile of breast cysts were in agreement with the literature. There was no statistically significant difference among the genotypic groups (wild homozygous, heterozygous and mutated homozygous), despite a slightly increased frequency of the mutated genotype in the control group. This difference indicates a trend of the MspAI polymorphism of the gene CYP17 to act as a protective factor against the development of breast cysts.
研究普通女性人群中几个年龄组的乳腺囊肿患病率及其与 CYP17 基因 MspAI 多态性的关系。
在 204 次超声检查中，研究人群中有 22%存在囊肿。这些女性的流行病学-临床特征为白种人，年龄在 41-50 岁，月经周期规律，多产，有乳房疼痛。基因多态性的遗传分布符合 Hardy-Weinberg 平衡，野生纯合表型在病例组中观察到 36.4%，在对照组中观察到 37.6%；杂合表型在研究组中观察到 50%，在对照组中观察到 46.3%；突变纯合表型在研究组中观察到 13.6%，在对照组中观察到 16.1%。组间无统计学差异（p=0.92）。
乳腺囊肿的患病率和大多数流行病学特征与文献相符。尽管对照组中突变基因型的频率略有增加，但各基因型组（野生纯合型、杂合型和突变纯合型）之间无统计学差异。这种差异表明 CYP17 基因的 MspAI 多态性可能作为乳腺囊肿发生的保护因素。
