Associations between a single nucleotide polymorphism of stress-induced phosphoprotein 1 and endometriosis/adenomyosis

Chia-Lung Tsai, Tsai CL, Yun‐Shien Lee, Lee YS, Yun-Shien Lee, Angel Chao, Chao A, Chih‐Feng Yen, Chih-Feng Yen, Hsin-Shih Wang, Hsin‐Shih Wang, Wang HS, Wang TH, Tzu‐Hao Wang, Tzu-Hao Wang
Taiwanese journal of obstetrics & gynecology · 2018 · vol. 57(2) , pp. 270–275 · doi:10.1016/j.tjog.2018.03.001 · PMID:29673672 · W2800860898
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This study found that the G allele of the STIP1 SNP rs4980524 is associated with increased STIP1 and MMP9 expression in women with endometriosis/adenomyosis.

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Abstract

OBJECTIVE: We have recently reported that stress-induced phosphoprotein 1 (STIP1) is over-expressed in endometriosis/adenomyosis tissues. STIP1 may also be involved in immune regulation, thus we attempted to study the association between STIP1 single nucleotide polymorphisms (SNPs) and endometriosis/adenomyosis. MATERIALS AND METHODS: Five STIP1 SNPs (rs7941773, rs2845597, rs4980524, rs2282490, and rs2236647) were selected for genotyping with matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) in 286 patients with endometriosis/adenomyosis and 288 healthy postmenopausal controls. In vitro studies included luciferase promoter reporter assays and western blot analysis for STIP1 and MMP9 proteins. RESULTS: The frequency of the G allele at rs4980524 was significantly higher in patients with endometriosis/adenomyosis than in control women. The promoter reporter with rs4980524 GG genotype significantly increased luciferase activity than that with TT genotype in endometrial cancer RL95-2 cells, and the primary endometrial stromal cells carrying rs4980524 GG genotype expressed higher protein levels of STIP1 and MMP9 than those carrying the TT one. CONCLUSION: The G/G allele of STIP1 SNP rs4980524 is associated with the increased expression of STIP1 and MMP9 in endometriosis. Further validation in independent cohorts of endometriosis patients may prove its usefulness as a genetic risk maker for endometriosis/adenomyosis.

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Condition tags

endometriosisadenomyosis

MeSH descriptors

Adenomyosis Endometriosis Heat-Shock Proteins Polymorphism, Single Nucleotide Adenomyosis Adenomyosis Endometriosis Endometriosis Female Female Gene Frequency Gene Frequency Genetic Predisposition to Disease Genetic Predisposition to Disease Genotype Genotype Heat-Shock Proteins Heat-Shock Proteins Humans Humans

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