Estrogen receptor alpha dinucleotide repeat and cytochrome P450c17alpha gene polymorphisms are associated with susceptibility to endometriosis

Hsieh YY, Yao‐Yuan Hsieh, Yao-Yuan Hsieh, Chang CC, Chi-Chen Chang, Tsai FJ, Fuu‐Jen Tsai, Fuu-Jen Tsai, Cheng‐Chieh Lin, Cheng-Chieh Lin, Tsai CH, Chang-Hai Tsai, Chang‐Hai Tsai
Fertility and sterility · 2005 · vol. 83(3) , pp. 567–572 · doi:10.1016/j.fertnstert.2004.07.977 · PMID:15749482 · W2113708054
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This study investigated the relationship between dinucleotide repeat polymorphisms in the estrogen receptor α gene and cytochrome P450c17α gene and their association with endometriosis susceptibility.

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Abstract

OBJECTIVE: To investigate the association of endometriosis with estrogen receptor alpha (ER alpha) and cytochrome P450c17alpha (CYP17) gene polymorphisms in light of the fact that estrogen plays a role in the pathogenesis of endometriosis and the CYP17 enzyme is involved with estrogen biosynthesis. DESIGN: Prospective study. SETTING: Genetics and gynecology units. PATIENT(S): All patients were divided into two groups: group 1, women with endometriosis (n = 119); group 2, normal controls (n = 108). INTERVENTION(S): A dinucleotide (thymine-adenine [TA]) repeat polymorphism lying upstream of the ER alpha gene and A1/A2 polymorphism of the CYP17 gene were amplified by polymerase chain reaction, enzyme restriction, and electrophoresis. MAIN OUTCOME MEASURE(S): The ER genotypes were classified into A through T (TA repeats, 10-29). The CYP17 genotypes included indigestible (A1 homozygote), heterozygote, and digestible (A2 homozygote). We compared these polymorphism distributions in both groups. RESULT(S): The percentage of genotypes D-G (TA, 13-16) in both groups were 10.5%, 29.4%, 13.0%, and 11.3% in group 1 and 7.9%, 16.7%, 19.9%, and 17.6% in group 2. The genotype E (14 TA repeats) is associated with a higher risk of endometriosis. Proportions of A1 homozygote/heterozygote/A2 homozygote for CYP17 were 26.1%/46.2%/27.7% for group 1 and 14.8%/44.5%/40.7% for group 2, respectively. The A1 homozygote and allele were associated with a higher susceptibility of endometriosis. CONCLUSION(S): ER alpha* 14 TA repeats and the CYP17* A1 allele are associated with an increased risk of endometriosis. Both polymorphisms are useful markers for predicting endometriosis susceptibility.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Endometriosis Estrogen Receptor alpha Polymorphism, Single Nucleotide Polymorphism, Single Nucleotide Steroid 17-alpha-Hydroxylase Dinucleotide Repeats Dinucleotide Repeats Endometriosis Endometriosis Estrogen Receptor alpha Estrogen Receptor alpha Female Female Genetic Predisposition to Disease Genetic Predisposition to Disease Genetic Predisposition to Disease Genotype Genotype Heterozygote

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