Association between endometriosis and genetic polymorphisms of the estradiol-synthesizing enzyme genes HSD17B1 and CYP19

M. Tsuchiya, H. Nakao, T. Katoh, H. Sasaki, M. Hiroshima, T. Tanaka, Tadashi Matsunaga, T. Hanaoka, S. Tsugane, T. Ikenoue

Research output: Contribution to journalArticle

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Abstract

Background: Endometriosis, an estrogen-dependent disease, is believed to be influenced by multiple genetic and environmental factors. Here, we evaluated whether the risk and severity of endometriosis are associated with polymorphisms in estradiol-synthesizing enzyme genes: the Ser312Gly polymorphism in 17-beta-hydroxysteroid dehydrogenase type 1 (HSD17B1) and the Arg264Cys polymorphism in cytochrome P450, subfamily XIX (CYP19). Methods: All participants underwent diagnostic laparoscopy, and the stage of endometriosis was determined according to the Revised American Fertility Society classification. Of the 138 women enrolled, 59 had no endometriosis, 21 had stage I, 10 had stage II, 23 had stage III and 25 had stage IV. SNPs were discriminated by allele-specific oligonucleotide hybridization. Results: Individuals having at least one A-allele (A/G or A/A genotype) of HSD17B1 showed a significantly increased risk of endometriosis (A/G genotype: adjusted OR, 3.06; 95% CI 1.21-7.74; A/A genotype: adjusted OR, 3.02; 95% CI 1.08-8.43). There was a significant trend associating A/G + A/A genotypes with severity of endometriosis (P for trend <0.01). No statistically significant association was found for the CYP19 polymorphism. Conclusions: Evidence for association between the Ser312Gly polymorphism in HSD17B1 and endometriosis was found in a Japanese population. The A-allele of HSD17B1 appears to confer higher risk for endometriosis.

Original languageEnglish
Pages (from-to)974-978
Number of pages5
JournalHuman Reproduction
Volume20
Issue number4
DOIs
Publication statusPublished - 2005 Apr
Externally publishedYes

Fingerprint

Aromatase
Genetic Polymorphisms
Endometriosis
Estradiol
Enzymes
Genes
Genotype
Alleles
17-Hydroxysteroid Dehydrogenases
Oligonucleotides
Laparoscopy
Cytochrome P-450 Enzyme System
Single Nucleotide Polymorphism
Fertility
Estrogens

Keywords

  • CYP19
  • Endometriosis
  • Estrogen synthesis
  • Genetic polymorphism
  • HSD17B1

ASJC Scopus subject areas

  • Physiology
  • Developmental Biology
  • Obstetrics and Gynaecology
  • Reproductive Medicine

Cite this

Tsuchiya, M., Nakao, H., Katoh, T., Sasaki, H., Hiroshima, M., Tanaka, T., ... Ikenoue, T. (2005). Association between endometriosis and genetic polymorphisms of the estradiol-synthesizing enzyme genes HSD17B1 and CYP19. Human Reproduction, 20(4), 974-978. https://doi.org/10.1093/humrep/deh726

Association between endometriosis and genetic polymorphisms of the estradiol-synthesizing enzyme genes HSD17B1 and CYP19. / Tsuchiya, M.; Nakao, H.; Katoh, T.; Sasaki, H.; Hiroshima, M.; Tanaka, T.; Matsunaga, Tadashi; Hanaoka, T.; Tsugane, S.; Ikenoue, T.

In: Human Reproduction, Vol. 20, No. 4, 04.2005, p. 974-978.

Research output: Contribution to journalArticle

Tsuchiya, M, Nakao, H, Katoh, T, Sasaki, H, Hiroshima, M, Tanaka, T, Matsunaga, T, Hanaoka, T, Tsugane, S & Ikenoue, T 2005, 'Association between endometriosis and genetic polymorphisms of the estradiol-synthesizing enzyme genes HSD17B1 and CYP19', Human Reproduction, vol. 20, no. 4, pp. 974-978. https://doi.org/10.1093/humrep/deh726
Tsuchiya, M. ; Nakao, H. ; Katoh, T. ; Sasaki, H. ; Hiroshima, M. ; Tanaka, T. ; Matsunaga, Tadashi ; Hanaoka, T. ; Tsugane, S. ; Ikenoue, T. / Association between endometriosis and genetic polymorphisms of the estradiol-synthesizing enzyme genes HSD17B1 and CYP19. In: Human Reproduction. 2005 ; Vol. 20, No. 4. pp. 974-978.
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AU - Nakao, H.

AU - Katoh, T.

AU - Sasaki, H.

AU - Hiroshima, M.

AU - Tanaka, T.

AU - Matsunaga, Tadashi

AU - Hanaoka, T.

AU - Tsugane, S.

AU - Ikenoue, T.

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N2 - Background: Endometriosis, an estrogen-dependent disease, is believed to be influenced by multiple genetic and environmental factors. Here, we evaluated whether the risk and severity of endometriosis are associated with polymorphisms in estradiol-synthesizing enzyme genes: the Ser312Gly polymorphism in 17-beta-hydroxysteroid dehydrogenase type 1 (HSD17B1) and the Arg264Cys polymorphism in cytochrome P450, subfamily XIX (CYP19). Methods: All participants underwent diagnostic laparoscopy, and the stage of endometriosis was determined according to the Revised American Fertility Society classification. Of the 138 women enrolled, 59 had no endometriosis, 21 had stage I, 10 had stage II, 23 had stage III and 25 had stage IV. SNPs were discriminated by allele-specific oligonucleotide hybridization. Results: Individuals having at least one A-allele (A/G or A/A genotype) of HSD17B1 showed a significantly increased risk of endometriosis (A/G genotype: adjusted OR, 3.06; 95% CI 1.21-7.74; A/A genotype: adjusted OR, 3.02; 95% CI 1.08-8.43). There was a significant trend associating A/G + A/A genotypes with severity of endometriosis (P for trend <0.01). No statistically significant association was found for the CYP19 polymorphism. Conclusions: Evidence for association between the Ser312Gly polymorphism in HSD17B1 and endometriosis was found in a Japanese population. The A-allele of HSD17B1 appears to confer higher risk for endometriosis.

AB - Background: Endometriosis, an estrogen-dependent disease, is believed to be influenced by multiple genetic and environmental factors. Here, we evaluated whether the risk and severity of endometriosis are associated with polymorphisms in estradiol-synthesizing enzyme genes: the Ser312Gly polymorphism in 17-beta-hydroxysteroid dehydrogenase type 1 (HSD17B1) and the Arg264Cys polymorphism in cytochrome P450, subfamily XIX (CYP19). Methods: All participants underwent diagnostic laparoscopy, and the stage of endometriosis was determined according to the Revised American Fertility Society classification. Of the 138 women enrolled, 59 had no endometriosis, 21 had stage I, 10 had stage II, 23 had stage III and 25 had stage IV. SNPs were discriminated by allele-specific oligonucleotide hybridization. Results: Individuals having at least one A-allele (A/G or A/A genotype) of HSD17B1 showed a significantly increased risk of endometriosis (A/G genotype: adjusted OR, 3.06; 95% CI 1.21-7.74; A/A genotype: adjusted OR, 3.02; 95% CI 1.08-8.43). There was a significant trend associating A/G + A/A genotypes with severity of endometriosis (P for trend <0.01). No statistically significant association was found for the CYP19 polymorphism. Conclusions: Evidence for association between the Ser312Gly polymorphism in HSD17B1 and endometriosis was found in a Japanese population. The A-allele of HSD17B1 appears to confer higher risk for endometriosis.

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KW - Endometriosis

KW - Estrogen synthesis

KW - Genetic polymorphism

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