Association of two polymorphisms in the peroxisome proliferator-activated receptor-gamma gene with adenomyosis, endometriosis, and leiomyomata in Japanese women

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This study investigated the association between two genetic variations in the PPARγ gene and the prevalence of adenomyosis, endometriosis, and leiomyomata in Japanese women.

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Abstract

OBJECTIVE: The peroxisome proliferator-activated receptor-gamma (PPAR-gamma) is a nuclear hormone receptor that plays an important role in many diseases. This study investigated whether two polymorphisms (Pro12Ala in exon B and C161T in exon 6) of the PPAR-gamma2 gene are related to adenomyosis, endometriosis, or leiomyomata. METHODS: A total of 390 patients with adenomyosis, endometriosis, and/or leiomyomata were classified into four groups: 103 patients with adenomyosis (21 adenomyosis only and 82 adenomyosis with endometriosis and/or leiomyomata), 95 patients with endometriosis only, 100 patients with leiomyomata only, and 92 patients with endometriosis and leiomyomata. RESULTS: There was no association between distribution of genotype or allele frequencies for the PPAR-gamma Pro12Ala polymorphism and the presence of adenomyosis, endometriosis, and/or leiomyomata. However, compared with results for controls, the PPAR-gamma 161CC genotype and 161C allele frequencies were significantly increased in patients with adenomyosis (genotype: chi2 = 8.185, corrected P value [Pc] = .0169; allele: chi2 = 8.337, Pc = .0155) and in patients with endometriosis (genotype: chi2 = 6.748, Pc = .0375; allele: chi2 = 6.413, Pc = .0453). CONCLUSION: The results suggest that the PPAR-gamma 161CC genotype could be a genetic risk factor for adenomyosis and endometriosis, whereas the Pro12Ala polymorphism was not associated with these estrogen-dependent benign uterine diseases in a Japanese population.

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Condition tags

endometriosisadenomyosis

MeSH descriptors

Endometriosis Leiomyoma Polymorphism, Genetic Polymorphism, Genetic PPAR gamma Uterine Neoplasms DNA DNA DNA Endometriosis Endometriosis Female Female Gene Frequency Gene Frequency Genotype Genotype Humans Humans Japan

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europepmc
last seen: 2026-10-18T09:30:06.152893+00:00
openalex
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pubmed
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