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CAPN10 Alleles Are Associated with Polycystic Ovary Syndrome

Centro Avanzado de Fertilidad, Unidad de Reproducción y Genética Humana, Instituto Medico Serman, Jerez de la Frontera (A.G., E.A., A.Ro., M.J.A., M.J.F., P.V.), Cádiz, Spain; Unidad Materno- Infantil, Hospital Virgen de las Montañas (A.G.), Villamartin, Cádiz, Spain; and Departamento de Genómica Estructural, Neocodex, Parque Científico y Tecnológico Isla de la Cartuja (J.L.R., L.M.R., A.Ru.), Sevilla, Spain

Address all correspondence and requests for reprints to: Dr. Alejandro Gonzalez, Centro Avanzado de Fertilidad, Unidad de Reproducción y Genética Humana, Instituto Medico Serman, 11405 Jerez de la Frontera, Cádiz, Spain. E-mail: . alejandro{at}caf-jerez.com

Abstract

Polycystic ovary syndrome (PCOS) is characterized by chronic anovulation infertility, hyperandrogenemia, and frequently insulin resistance. This study investigated whether polymorphisms in the CAPN10 gene are related with PCOS etiology. The allelic frequencies and genotypes of CAPN10 polymorphisms UCSNP-44, 43, 19, and 63 were determined in 55 well characterized women with polycystic ovaries and 93 unrelated healthy controls using spectrofluorimetric analyses and real-time PCR. Our data indicate that CAPN10 UCSNP-44 allele is associated with PCOS in the Spanish population (P = 0.01). These results support a role of Calpain 10 gene in PCOS susceptibility in humans.

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