Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome

• Published in: Human reproduction (Oxford) Vol. 21; no. 4; pp. 943 - 951
• Main Authors: González, A., Sáez, M.E., Aragón, M.J., Galán, J.J., Vettori, P., Molina, L., Rubio, C., Real, L.M., Ruiz, Agustín, Ramírez-Lorca, R.
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.04.2006; Oxford Publishing Limited (England)
• Subjects: Alleles; anovulation; Biological and medical sciences; Calpain - genetics; CAPN5 gene; Diabetes Mellitus, Type 2 - complications; Female; Gene Frequency; Genetic Predisposition to Disease; Gynecology. Andrology. Obstetrics; Haplotypes; Humans; Hypertension - complications; Medical sciences; Obesity - complications; PCOS; Phenotype; Polycystic Ovary Syndrome - complications; Polycystic Ovary Syndrome - genetics; Polymorphism, Single Nucleotide; Risk Factors; SNP; sterility; PCOS; sterility; anovulation; SNP; gene; anovulation/CAPN5 gene/PCOS/SNP/sterility; Menstruation disorders; Anovulation; Enzyme; Cysteine endopeptidases; Female sterility; Calpain; Polycystic ovary; Female genital diseases; Ovarian diseases; Peptidases; Vertebrata; Mammalia; Gene; Cyst; Hydrolases; Benign neoplasm; Haplotype

BACKGROUND: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. The aim of the present study was to investigate the role of CALPAIN-5 (CAPN5) gene in PCOS susceptibility. METHODS: We analysed four intronic polymorphisms of the CAPN5 gene in 148 well-characte...