Single nucleotide polymorphisms and haplotypes of the genes encoding the CYP1B1 in Korean women: No association with advanced endometriosis

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This study investigated CYP1B1 gene polymorphisms and haplotypes in Korean women and found no association with the risk of advanced endometriosis.

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This study investigated whether CYP1B1 single nucleotide polymorphisms and haplotypes are associated with risk of advanced endometriosis in 221 Korean women with histopathologically confirmed stage III/IV endometriosis (rAFS) and 188 surgically confirmed controls without endometriosis. Using PCR and restriction fragment length polymorphism, the authors genotyped four CYP1B1 variants (Ala119Ser, Leu432Val, Asp449(C>T), Asn453Ser) and also performed haplotype analysis. They found no overall association between any individual CYP1B1 genotype or haplotype and the risk of advanced endometriosis, with odds ratios for haplotypes also showing no association. The paper relates to endometriosis by directly testing CYP1B1 polymorphisms and concluding no link with advanced endometriosis in the studied Korean population.

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Abstract

Objective: To investigate whether single nucleotide polymorphisms and its haplotypes of gene encoding CYP1B1 are associated with the risk of advanced endometriosis in Korean women.

Methods

We investigated 221 patients with histopathologically confirmed endometriosis rAFS stage III/IV and 188 control group women who were surgically proven to have no endometriosis. The genetic distribution of four different CYP1B1 polymorphisms at Ala119Ser, Leu432Val, Asp449(C>T), Asn453Ser were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism of PCR products. Haplotype analysis was also performed.

Results

We found no overall association between each individual CYP1B1 genotype or haplotype and the risk of endometriosis. Also, the odds ratio of each haplotypes of CYP1B1 showed no association with the risk of endometriosis.

Conclusions

These results suggest that CYP1B1 genetic polymorphism may not be associated with development of advanced endometriosis in Korean women. Similar content being viewed by others

References

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Acknowledgements

This work was supported by Korea Research Foundation Grant (KRF-2004-041-E00192). Author information Authors and Affiliations Corresponding author Additional information CYP1B1 genetic polymorphism may not be associated with development of advanced endometriosis. Rights and permissions About this article Cite this article Cho, Y.J., Hur, S.E., Lee, J.Y. et al. Single nucleotide polymorphisms and haplotypes of the genes encoding the CYP1B1 in Korean women: No association with advanced endometriosis. J Assist Reprod Genet 24, 271–277 (2007). https://doi.org/10.1007/s10815-007-9122-0 Received: Accepted: Published: Issue date: DOI: https://doi.org/10.1007/s10815-007-9122-0

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Aryl Hydrocarbon Hydroxylases Endometriosis Polymorphism, Single Nucleotide Alleles Aryl Hydrocarbon Hydroxylases Asian People Case-Control Studies Cytochrome P-450 CYP1B1 Endometriosis Endometriosis Female Gene Frequency Genetic Predisposition to Disease Genotype Haplotypes Haplotypes Humans Korea Linkage Disequilibrium Odds Ratio

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