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Journal of the Society for Gynecologic Investigation
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Association of Two Polymorphisms in the Peroxisome Proliferator-Acativated Receptor-{gamma} Gene With Adenomyosis, Endometriosis, and Leiomyomata in Japanese Women

Miyo Kiyomizu, MD

Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan: Department of Clinical Research, Institute of Bio-Response Informatics, Kyoto, Japan; Department of Medical Biochemistry, Kobe Pharmaceutical University, Kobe, Japan kitawaki{at}koto.kpu-m.ac.jp

Jo Kitawaki, MD, PhD

Hiroshi Obayashi, PhD

Mitsuhiro Ohta, Phd

Hisato Koshiba, MD, PhD

Hiroaki Ishihara, MD, PhD

Hideo Honjo, MD, PhD

Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan: Department of Clinical Research, Institute of Bio-Response Informatics, Kyoto, Japan; Department of Medical Biochemistry, Kobe Pharmaceutical University, Kobe, Japan

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-{gamma}2 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: {chi}2 = 9.185, corrected P value [Pc] = .0169; allele: {chi}2 = 8.337, Pc = .0155) and in patient with endometriosis (genotype: {chi}2 = 6.748, Pc = .0375; allele: {chi}2 = 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.

Key Words: Adenomyosis • endometriosis • genetic risk factor • leiomyomata • PPAR-{gamma} gene polymorphism

Journal of the Society for Gynecologic Investigation, Vol. 13, No. 5, 372-377 (2006)
DOI: 10.1016/j.jsgi.2006.03.005
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