High-resolution array-comparative genomic hybridization profiling reveals 20q13.33 alterations associated with ovarian endometriosis

Wenqing Yang, Yi Zhang, Fang Fu, Ru Li
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology · 2013 · vol. 29(6) , pp. 603–607 · doi:10.3109/09513590.2013.788632 · PMID:23656391 · W1989474272
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Array-CGH analysis identified 20q13.33 duplications involving GATA5 and SLCO4A1 genes in five of eleven ovarian endometriosis cases.

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Abstract

OBJECTIVE: The purpose of this study is to investigate the potential genetic alterations at DNA level in patients with ovarian endometriosis by high-resolution array-based comparative genomic hybridization (array-CGH) analysis. METHODS: Following the laparoscopic surgical and the post-operative pathological examination, genomic DNA was extracted from endometriomas of 11 women with endometriosis and endometrial tissue of the controls and analyzed by array-CGH. Real-time PCR was used for confirmation the result of array-CGH analysis and detected the DNA copy number variations of the eutopic endometrium from the five patients with the duplication in 20q13.33 region. RESULTS: All 11 patients with ovarian endometriosis were diagnosed through the laparoscopic surgical and the post-operative pathological examination. We found occurrence of genomic duplication at 20q13.33 chromosomal region with gain of GATA5 and SLCO4A1 genes in 5 of 11 endometriomas from patients. CONCLUSION: The results of the present study suggest that there was 20q13.33 duplication in women with ovarian endometriosis. This effect might be due to the alterations of GATA5 and SLCO4A1 genes in the gain region, through involving the metabolism of the steroid hormone.

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Condition tags

endometriosis

MeSH descriptors

Chromosomes, Human, Pair 20 Comparative Genomic Hybridization Comparative Genomic Hybridization Endometriosis Ovarian Diseases Trisomy Adult Asian People Asian People Case-Control Studies Chromosomes, Human, Pair 20 DNA Copy Number Variations Endometriosis Endometriosis Female Gene Expression Profiling Gene Expression Profiling Genetic Association Studies Genetic Predisposition to Disease Humans

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