Ten Estrogen-Related Polymorphisms and Endometriosis

Ambros Huber, Huber A, Keck CC, Christoph C Keck, Christoph Keck, Lukas Hefler, Lukas A Hefler, Hefler LA, Christian Schneeberger, Schneeberger C, Huber JC, Johannes C. Huber, Johannes Huber, Eva-Katrin Bentz, Bentz EK, Tempfer CB, Clemens Tempfer, Clemens B Tempfer
Obstetrics and gynecology · 2005 · vol. 106(5, Part 1) , pp. 1025–1031 · doi:10.1097/01.aog.0000185259.01648.41 · PMID:16260521 · W2315294245
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This case-control study investigated ten estrogen metabolism SNPs and found that HSD17 vlV A->C variation is associated with an increased risk of endometriosis.

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This case-control study investigated the association between ten single nucleotide polymorphisms involved in estrogen metabolism and endometriosis by analyzing genotype frequencies in 32 patients versus 790 healthy controls. The researchers utilized sequencing-on-chip technology and stepwise logistic regression to evaluate both individual SNP effects and two-way interactions among these genetic variants. The results identified a significant association between the HSD17 vlV A->C polymorphism and an increased risk of endometriosis, while no significant interactions among the studied SNPs were observed. This paper is centrally about endometriosis — specifically investigating the role of estrogen-related genetic variations as potential low-penetrance markers for the disease.

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Abstract

OBJECTIVE: Genetic as well as hormonal factors are known to influence the development and clinical course of endometriosis. We aimed to investigate the association among 10 single nucleotide polymorphisms (SNPs) involved in the estrogen metabolism and endometriosis and to develop a multiple genetic model. METHODS: In a case-control study, we investigated the genotype frequencies of 10 estrogen metabolizing SNPs in 32 patients with endometriosis and 790 healthy controls using sequencing-on-chip-technology with solid-phase polymerase chain reaction on oligonucleotide microarrays: catechol-O-methyltransferase, Val158Met G->A, 17-beta-hydroxysteroid dehydrogenase type 1 (HSD17), vlV A->C, cytochrome P450 (CYP), 17 A2 allele T->C, CYP1A1 MspI RFLP T->C, CYP1A1 Ile462Val A->G, CYP19 Arg264Cys C->T, CYP19 C1558T C->T, CYP 1B1 Leu432Val, CYP1B1 Asn453Ser, and estrogen receptor alpha IVS1 -401>C. Associations and 2-way interaction models between SNPs were calculated by stepwise logistic regression models. RESULTS: In a univariate model, HSD17 vlV A->C was associated with a significantly increased risk of endometriosis (P = .004; odds ratio 3.9, 95% confidence interval 1.6-9.8). When all 2-way interactions of investigated SNPs were ascertained, no significant interactions among SNPs were observed. In a multivariate model, HSD17 vlV A->C was also significantly associated with endometriosis (P = .002). CONCLUSION: We present data on multiple SNPs in patients with endometriosis indicating an association between HSD17 gene variation and the disease. Although not able to demonstrate interaction models of SNPs, we provide evidence of HSD17 vlV A->C as a low penetrance genetic marker of endometriosis. LEVEL OF EVIDENCE: II-2.
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Objective

Genetic as well as hormonal factors are known to influence the development and clinical course of endometriosis. We aimed to investigate the association among 10 single nucleotide polymorphisms (SNPs) involved in the estrogen metabolism and endometriosis and to develop a multiple genetic model.

Methods

In a case–control study, we investigated the genotype frequencies of 10 estrogen metabolizing SNPs in 32 patients with endometriosis and 790 healthy controls using sequencing-on-chip-technology with solid-phase polymerase chain reaction on oligonucleotide microarrays: catechol-O-methyltransferase, Val158Met G->A, 17-β-hydroxysteroid dehydrogenase type 1 (HSD17), vlV A->C, cytochrome P450 (CYP), 17 A2 allele T->C, CYP1A1 MspI RFLP T->C, CYP1A1 Ile462Val A->G, CYP19 Arg264Cys C->T, CYP19 C1558T C->T, CYP 1B1 Leu432Val, CYP1B1 Asn453Ser, and estrogen receptor alpha IVS1 –401>C. Associations and 2-way interaction models between SNPs were calculated by stepwise logistic regression models.

Results

In a univariate model, HSD17 vlV A->C was associated with a significantly increased risk of endometriosis (P = .004; odds ratio 3.9, 95% confidence interval 1.6–9.8). When all 2-way interactions of investigated SNPs were ascertained, no significant interactions among SNPs were observed. In a multivariate model, HSD17 vlV A->C was also significantly associated with endometriosis (P = .002).

Conclusion

We present data on multiple SNPs in patients with endometriosis indicating an association between HSD17 gene variation and the disease. Although not able to demonstrate interaction models of SNPs, we provide evidence of HSD17 vlV A->C as a low penetrance genetic marker of endometriosis. LEVEL OF EVIDENCE: II-2

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Condition tags

endometriosis

MeSH descriptors

Catechol O-Methyltransferase Cytochrome P-450 Enzyme System Endometriosis Estradiol Dehydrogenases Estrogen Receptor alpha Polymorphism, Single Nucleotide Adult Case-Control Studies Catechol O-Methyltransferase Cytochrome P-450 Enzyme System Endometriosis Endometriosis Estradiol Dehydrogenases Estrogen Receptor alpha Female Genetic Predisposition to Disease Genetic Predisposition to Disease Humans Middle Aged Polymorphism, Single Nucleotide

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