title: Association of Calpain (CAPN) 10 (UCSNP-43, rs3792267) gene polymorphism with elevated serum androgens in young women with the most severe phenotype of polycystic ovary syndrome (PCOS).
abstract: OBJECTIVE
  To highlight a possible association of Calpain (CAPN 10) gene UCSNP-43 polymorphism with hormonal and metabolic traits of young women with different phenotypes of polycystic ovary syndrome (PCOS).
  
  
  METHODS
  PCOS women were genotyped for the CAPN 10 gene UCSNP-43 polymorphism. A comparison of clinical and biochemical features of women with PCOS stratified on the basis of the CAPN 10 gene UCSNP-43 variants was assessed.
  
  
  METHODS
  Anthropometric, hormonal and biochemical measurements were carried out in 668 PCOS women and 200 healthy controls. Subjects were also genotyped for the CAPN 10 gene UCSNP-43 polymorphism. The genotype frequency distributions between groups and controls were compared using the chi-square test. The association of the polymorphism with the clinical and biochemical features of the study cohort was estimated as well.
  
  
  RESULTS
  No association of the frequency of CAPN 10 gene UCSNP-43 polymorphism with PCOS was detected. No association of the polymorphism with the anthropometric, biochemical and hormonal features was detected both in PCOS and control women. The polymorphism was associated with serum Δ4 androstenedione (p = 0.018), as well as with 17-OH progesterone (17-hydroxyprogesterone) among women with PCOS phenotype A (p = 0.012).
  
  
  CONCLUSIONS
  CAPN 10 gene polymorphism UCSNP-43 is deprived of a metabolic contribution to cardiovascular disease (CVD). However, due to its association with androgen excess in phenotype A, CAPN 10 gene polymorphism UCSNP-43 could be used as a genetic marker for CVD in young PCOS women.
authors.affiliation: a Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology , University of Patras Medical School , Patras , Greece .
authors.forename: Karela
authors.initials: K
authors.lastname: Anastasia
authors.affiliation: a Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology , University of Patras Medical School , Patras , Greece .
authors.forename: Vasiliki
authors.initials: V
authors.lastname: Koika
authors.affiliation: a Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology , University of Patras Medical School , Patras , Greece .
authors.forename: Nikolaos D
authors.initials: ND
authors.lastname: Roupas
authors.affiliation: a Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology , University of Patras Medical School , Patras , Greece .
authors.forename: Anastasia
authors.initials: A
authors.lastname: Armeni
authors.affiliation: a Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology , University of Patras Medical School , Patras , Greece .
authors.forename: Dimitra
authors.initials: D
authors.lastname: Marioli
authors.affiliation: b Division of Endocrinology and Human Reproduction, Second Department of Obstetrics and Gynecology , Aristotle University of Thessaloniki , Thessaloniki , Greece , and.
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Panidis
authors.affiliation: c Department of Obstetrics and Gynecology , University of Patras, Medical School , Patras , Greece.
authors.forename: Adonakis
authors.initials: A
authors.lastname: George
authors.affiliation: a Division of Reproductive Endocrinology, Department of Obstetrics and Gynecology , University of Patras Medical School , Patras , Greece .
authors.forename: Neoklis A
authors.initials: NA
authors.lastname: Georgopoulos
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000728:Androgens / Q000097:blood*; D002154:Calpain / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D010641:Phenotype; D011085:Polycystic Ovary Syndrome / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D000728:Androgens; D002154:Calpain; C415197:calpain 10
keywords: CAPN 10 gene UCSNP-43 (rs3792267) polymorphism; Calpain 10 gene polymorphism; PCOS