title: [Association analysis of SNP-63 and indel-19 variant in the calpain-10 gene with polycystic ovary syndrome in women of reproductive age].
abstract: BACKGROUND
  Polycystic ovary syndrome is a complex and heterogeneous disease involving both reproductive and metabolic problems. It has been suggested a genetic predisposition in the etiology of this syndrome. The identification of calpain-10 gene (CAPN10) as the first candidate gene for type 2 diabetes mellitus, has focused the interest in investigating their possible relation with the polycystic ovary syndrome, because this syndrome is associated with hyperinsulinemia and insulin resistance, two metabolic abnormalities associated with type 2 diabetes mellitus.
  
  
  OBJECTIVE
  To investigate if there is association between the SNP-63 and the variant indel-19 of the CAPN10 gene and polycystic ovary syndrome in women of reproductive age.
  
  
  METHODS
  This study included 101 women (55 with polycystic ovary syndrome and 46 without polycystic ovary syndrome). The genetic variant indel-19 was identified by electrophoresis of the amplified fragments by PCR, and the SNP-63 by PCR-RFLP.
  
  
  RESULTS
  The allele and genotype frequencies of the two variants do not differ significatly between women with polycystic ovary syndrome and control women group. The haplotype 21 (defined by the insertion allele of indel-19 variant and C allele of SNP-63) was found with higher frequency in both study groups, being more frequent in the polycystic ovary syndrome patients group, however, this difference was not statistically significant (p = 0.8353).
  
  
  CONCLUSIONS
  The results suggest that SNP-63 and indel-19 variant of the CAPN10 gene do not represent a risk factor for polycystic ovary syndrome in our patients group.
authors.affiliation: División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
authors.forename: Silvia Esperanza
authors.initials: SE
authors.lastname: Flores-Martínez
authors.affiliation: División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
authors.forename: Anna Gabriela
authors.initials: AG
authors.lastname: Castro-Martínez
authors.affiliation: División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
authors.forename: Andrés
authors.initials: A
authors.lastname: López-Quintero
authors.affiliation: Departamento de Farmacobiología, Centro Universitario de Ciencias Exactas e Ingenierías, Universidad de Guadalajara, Guadalajara, Jalisco, México.
authors.forename: Alejandra Guadalupe
authors.initials: AG
authors.lastname: García-Zapién
authors.affiliation: División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.
authors.forename: Ruth Noemí
authors.initials: RN
authors.lastname: Torres-Rodríguez
authors.affiliation: División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México. Electronic address: josancomx@yahoo.com.mx.
authors.forename: José
authors.initials: J
authors.lastname: Sánchez-Corona
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D002154:Calpain / Q000235:genetics*; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D054643:INDEL Mutation; D008800:Mexico / Q000453:epidemiology; D011085:Polycystic Ovary Syndrome / Q000453:epidemiology / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D015252:Deoxyribonucleases, Type II Site-Specific; C037130:GCGC-specific type II deoxyribonucleases; D002154:Calpain; C415197:calpain 10
keywords: CAPN10 variants; Gen CAPN10; Haplotipos; Haplotypes; Polycystic ovary syndrome; Síndrome de ovario poliquístico