Department of Obstetrics and Gynecology, Seoul Medical Center, Seoul, Republic of Korea.
Eur J Obstet Gynecol Reprod Biol. 2012 Oct;164(2):196-9. doi: 10.1016/j.ejogrb.2012.06.004. Epub 2012 Jul 5.
To determine if specific single nucleotide polymorphisms (SNPs) in the Epidermal Growth Factor Receptor (EGFR) gene were meaningful markers for the risk of advanced stage endometriosis in a Korean population.
Case-control study in a collective of 299 women with endometriosis and 285 controls. Three polymorphisms (151904 A>T [T628T] on exon 16 [rs 17337023], 162093 G>A [Q787Q] on exon 20 [rs 10251977], and 181946 C>T [D994D] on exon 25 [rs 2293347]) were assessed by a Minor Groove Binder (MGB) primer/probe Taqman assay. In-silico haplotypes were deduced using the Haploview (version 3.32) software package.
There were no statistically significant differences in the genotype or haplotype frequencies of the three EGFR polymorphisms between subjects with endometriosis versus the control group. Even when the endometriosis cases were subdivided into stage III and IV based on the ASRM criteria, no statistically significant differences in genotype distribution or haplotype frequencies were observed between the three groups.
Our results suggest that the 151904 A>T, 162093 G>A, and 181946 C>T polymorphisms in the EGFR gene are not associated with advanced stage endometriosis in a Korean population. Our results are in agreement with the results reported by Inagaki et al.
确定表皮生长因子受体（EGFR）基因中的特定单核苷酸多态性（SNP）是否是韩国人群中晚期子宫内膜异位症风险的有意义标志物。
在 299 名患有子宫内膜异位症的女性和 285 名对照者的群体中进行病例对照研究。通过 Minor Groove Binder（MGB）引物/探针 Taqman 分析评估三个多态性（16 外显子 151904 A>T [T628T] [rs17337023]，20 外显子 162093 G>A [Q787Q] [rs10251977]和 25 外显子 181946 C>T [D994D] [rs2293347]）。使用 Haploview（版本 3.32）软件包推导出了单体型。
在子宫内膜异位症患者与对照组之间，三个 EGFR 多态性的基因型或单体型频率没有统计学上的显著差异。即使根据 ASRM 标准将子宫内膜异位症病例进一步分为 III 期和 IV 期，三组之间基因型分布或单体型频率也没有统计学上的显著差异。
我们的结果表明，EGFR 基因中的 151904 A>T、162093 G>A 和 181946 C>T 多态性与韩国人群中的晚期子宫内膜异位症无关。我们的结果与 Inagaki 等人的报告结果一致。
