黏蛋白基因多态性与韩国女性子宫内膜异位症有关。

Mucin gene polymorphisms are associated with endometriosis in Korean women.

机构信息

Institue of Tissue Regeneration Engineering (ITREN), Dankook University, Cheonan, Republic of Korea.

Department of Chemistry, College of Natural Science, Dankook University, Cheonan, Republic of Korea.

出版信息

Arch Gynecol Obstet. 2020 Mar;301(3):801-807. doi: 10.1007/s00404-019-05409-0. Epub 2019 Dec 19.

DOI:10.1007/s00404-019-05409-0

PMID:31858233

Abstract

OBJECTIVE

Mucin family members mucin 1 (MUC1) and mucin 4 (MUC4) play an important role in transformation and adhesion, and are known markers for the detection of cancer. However, the pathophysiology of endometriosis associated with the mucin gene is unclear. In this study, we analyzed the relationship between MUC1 and MUC4 single-nucleotide polymorphisms (SNPs) and the risk for endometriosis.

METHODS

We performed a case-controlled study of 29 endometriosis clinical samples and 27 functional cysts as control. Sixteen SNPs (rs145224844, rs139620330, rs144273480, rs1611770, rs146141676, rs201798179, rs201815857, rs199840128, rs200788986, rs141460657, rs183700327, rs199768496, rs191544901, rs200639498, rs148332231, and rs11465209) of MUC1 gene and eight SNPs (rs1104760, rs1106502, rs882605, rs2291651, rs2291652, rs2291653, rs2291654, and rs375068067) of the MUC4 gene were identified. We amplified SNP sites by polymerase chain reaction (PCR) using specific primer sets followed by DNA sequencing.

RESULTS

The single mutation analysis of MUC4 showed that MUC4 mutations had no effect on the risk for endometriosis, but the frequencies of haplotypes [T/T + T/T + C/C] (rs2291653, 2291654 and rs375068067) were associated with endometriosis.

CONCLUSION

The MUC1 genotype may not be correlated with endometriosis susceptibility. However, MUC4 polymorphisms are associated with the risk for endometriosis in Korean women.

摘要

目的

黏蛋白家族成员黏蛋白 1（MUC1）和黏蛋白 4（MUC4）在转化和黏附中发挥重要作用，是癌症检测的已知标志物。然而，子宫内膜异位症与黏蛋白基因的病理生理学尚不清楚。本研究分析了 MUC1 和 MUC4 单核苷酸多态性（SNP）与子宫内膜异位症风险之间的关系。

方法

我们对 29 例子宫内膜异位症临床样本和 27 例功能性囊肿进行了病例对照研究。共检测了 16 个 SNP（rs145224844、rs139620330、rs144273480、rs1611770、rs146141676、rs201798179、rs201815857、rs199840128、rs200788986、rs141460657、rs183700327、rs199768496、rs191544901、rs200639498、rs148332231 和 rs11465209）和 MUC1 基因的 8 个 SNP（rs1104760、rs1106502、rs882605、rs2291651、rs2291652、rs2291653、rs2291654 和 rs375068067）。我们使用特异性引物通过聚合酶链反应（PCR）扩增 SNP 位点，然后进行 DNA 测序。