{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T19:18:29Z","timestamp":1790968709095,"version":"4.1.0"},"reference-count":41,"publisher":"The Endocrine Society","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2003,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Recently, several research groups have evaluated CAPN10 gene in polycystic ovarian syndrome (PCOS) patients and other phenotypes, including hirsutism or intermediate phenotypes of PCOS. Molecular genetic analysis of CAPN10 gene indicates that different alleles may play a role in PCOS susceptibility and could be associated with idiopathic hirsutism. However, these observations are not exempt from controversy, because independent studies cannot replicate these preliminary findings.<\/jats:p>\n               <jats:p>We present a haplotype-phenotype correlation study of CAPN10 haplotypes in 148 women showing ecographically detected polycystic ovaries (PCO) combined with one or more of these clinical symptoms: amenorrhea or severe oligomenorrhea, hyperandrogenism, and anovulatory infertility, as well as 93 unrelated controls. We have reconstructed and analyzed 482 CAPN10 haplotypes in patients and controls. We detected the association of UCSNP-44 allele with PCO phenotype in the Spanish population (P = 0.02). In addition, we identified several CAPN10 alleles associated to phenotypic differences observed between PCO patients, such as the presence of hypercholesterolemia (haplotype 1121, P = 0.005), presence of hyperandrogenic features (P = 0.05), and familial cancer incidence (haplotype 1111, P = 0.0005). Our results confirm the association of UCSNP-44 allele with PCO phenotype in the Spanish population. Moreover, we have identified novel candidate risk alleles and genotypes, within CAPN10 gene, that could be associated with important phenotypic and prognosis differences observed in PCOS patients.<\/jats:p>","DOI":"10.1210\/jc.2003-030322","type":"journal-article","created":{"date-parts":[[2003,11,6]],"date-time":"2003-11-06T13:11:05Z","timestamp":1068124265000},"page":"5529-5536","source":"Crossref","is-referenced-by-count":52,"title":["Specific CAPN10 Gene Haplotypes Influence the Clinical Profile of Polycystic Ovary Patients"],"prefix":"10.1210","volume":"88","author":[{"given":"Alejandro","family":"Gonzalez","sequence":"first","affiliation":[{"name":"Centro Avanzado de Fertilidad (CAF) (A.G., E.A., A.Ro., M.J.A., M.J.F., P.V., O.F.), Unidad de Reproduccio\u0301n y Gene\u0301tica Humana, Instituto Medico Serman, 11405 Jerez de la Frontera, Ca\u0301diz, Spain"},{"name":"Unidad Materno-Infantil (A.G.), Hospital Virgen de las Montan\u0303as, 11650 Villamartin, Ca\u0301diz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Abril","sequence":"additional","affiliation":[{"name":"Centro Avanzado de Fertilidad (CAF) (A.G., E.A., A.Ro., M.J.A., M.J.F., P.V., O.F.), Unidad de Reproduccio\u0301n y Gene\u0301tica Humana, Instituto Medico Serman, 11405 Jerez de la Frontera, Ca\u0301diz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo","family":"Roca","sequence":"additional","affiliation":[{"name":"Centro Avanzado de Fertilidad (CAF) (A.G., E.A., A.Ro., M.J.A., M.J.F., P.V., O.F.), Unidad de Reproduccio\u0301n y Gene\u0301tica Humana, Instituto Medico Serman, 11405 Jerez de la Frontera, Ca\u0301diz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Jose\u0301","family":"Arago\u0301n","sequence":"additional","affiliation":[{"name":"Centro Avanzado de Fertilidad (CAF) (A.G., E.A., A.Ro., M.J.A., M.J.F., P.V., O.F.), Unidad de Reproduccio\u0301n y Gene\u0301tica Humana, Instituto Medico Serman, 11405 Jerez de la Frontera, Ca\u0301diz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Jose\u0301","family":"Figueroa","sequence":"additional","affiliation":[{"name":"Centro Avanzado de Fertilidad (CAF) (A.G., E.A., A.Ro., M.J.A., M.J.F., P.V., O.F.), Unidad de Reproduccio\u0301n y Gene\u0301tica Humana, Instituto Medico Serman, 11405 Jerez de la Frontera, Ca\u0301diz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Velarde","sequence":"additional","affiliation":[{"name":"Centro Avanzado de Fertilidad (CAF) (A.G., E.A., A.Ro., M.J.A., M.J.F., P.V., O.F.), Unidad de Reproduccio\u0301n y Gene\u0301tica Humana, Instituto Medico Serman, 11405 Jerez de la Frontera, Ca\u0301diz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roci\u0301o","family":"Ruiz","sequence":"additional","affiliation":[{"name":"Dpto. Geno\u0301mica Estructural (R.R., J.J.G., L.M.R., A.Ru.), neoCodex, 41020 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Fayez","sequence":"additional","affiliation":[{"name":"Centro Avanzado de Fertilidad (CAF) (A.G., E.A., A.Ro., M.J.A., M.J.F., P.V., O.F.), Unidad de Reproduccio\u0301n y Gene\u0301tica Humana, Instituto Medico Serman, 11405 Jerez de la Frontera, Ca\u0301diz, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose\u0301 Jorge","family":"Gala\u0301n","sequence":"additional","affiliation":[{"name":"Dpto. 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