Correlative Study on Mutant allele of CYP19 240A/G, COMT 1947G/A, Endometriosis and Adenomyosis

Li Pan, Zhenpeng Gu, Shun-zhen Liu, Pei-pei Dai
In: Chung-Hua Fu Ch'an K'o Tsa Chih · 2013 · vol. 9(1) , pp. 60–64 · doi:10.3877/cma.j.issn.1673-5250.2013.01.014 · W3029855604
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The mutant allele of CYP19 240A/G increased the risk of endometriosis and adenomyosis, while the COMT 1947A/G allele showed no relationship.

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This correlative study assessed whether SNPs in the estrogen-related genes CYP19 (240A/G) and COMT (1947G/A) are associated with endometriosis (EMs) and adenomyosis (AM) in Han women from Binzhou, China, using peripheral blood collected from 80 surgically confirmed EMs/AM cases (EMs n=30, AM n=50) and 38 matched controls without either condition. Genotypes and allele frequencies were measured by PCR-RFLP, and the authors report that CYP19 240A/G distributions differed significantly among groups, with the G allele increasing relative risk for EMs (2.463×) and AM (2.705×) and the AG/GG genotypes showing higher relative risks versus AA. In contrast, COMT 1947G/A genotype and allele distributions did not differ significantly between groups, and carriers of the A allele (GA+AA) were not associated with altered risk for EMs or AM. Limitations explicitly stated include the study’s cross-sectional, case-control design based on one geographic region and relatively small sample sizes. This paper is centrally about endometriosis and adenomyosis — it examines how CYP19 240A/G and COMT 1947G/A polymorphisms correlate with EMs and AM risk.

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Abstract

Objective To investigate the correlation of polymorphism of CYP19 240A/G, COMT 1947G/A, endometriosis (EMs) and adenomyosis (AM). Methods From September 2011 to March 2012, thirty cases of EMs and 50 cases of AM were recruited into this study. Meanwhile, thirty-eight cases without EMs and AM were included into control group. The blood were collected from all of them in the morning after the operation. The correlation between the multibus of two genes about EMs and AM was evaluated by PCR-restriction fragment length polymorphism (PCR-RFLP). The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Affiliated Hospital of Binzhou Medical College. Informed consent was obtained from all participates. Results There were a significant difference of the alleles and genotype of CYP19 240A/G between EMs group, AM group and control group (P 0.05). There were no significance between the genotype that caught A(GA+ AA)and GG genotype (P>0.05). There was no correlation between GA and AA genotype and the risk suffered from EMs and AM. Conclusions The mutant allele of CYP19 240A/G increased the risk suffered from EMs and AM. The mutant allele of COMT 1947A/G had no relationship with the risk of EMs and AM. Key words: endometriosis; adenomyosis; CYP19; COMT; mutant allele
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Objective

To investigate the correlation of polymorphism of CYP19 240A/G, COMT 1947G/A, endometriosis (EMs) and adenomyosis (AM).

Methods

From September 2011 to March 2012, thirty cases of EMs and 50 cases of AM were recruited into this study. Meanwhile, thirty-eight cases without EMs and AM were included into control group. The blood were collected from all of them in the morning after the operation. The correlation between the multibus of two genes about EMs and AM was evaluated by PCR-restriction fragment length polymorphism (PCR-RFLP). The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Affiliated Hospital of Binzhou Medical College. Informed consent was obtained from all participates.

Results

There were a significant difference of the alleles and genotype of CYP19 240A/G between EMs group, AM group and control group (P<0.05). The mutant allele of G made relative risk suffered from EMs and AM got 2.463 times, 2.705 times, respectively. The relative risks suffered from EMs and AM of AG and GG genotype were 4.444 and 3.939 times of GG genotype, respectively. There were no significant difference of the alleles and genotype of COMT 1947G/A between EMs group, AM group and control group (P>0.05). There were no significance between the genotype that caught A(GA+ AA)and GG genotype (P>0.05). There was no correlation between GA and AA genotype and the risk suffered from EMs and AM.

Conclusions

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