calpain and Hirsutism

Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder with individual susceptibility determined by genetic and environmental risk factors. Recently, studies have evaluated the CAPN10 gene in PCOS patients, suggesting that different alleles may play a role in PCOS susceptibility. We performed a cross-sectional study with 88 southern Brazilian hirsute patients with PCOS or idiopathic hirsutism (IH) to assess the influence of CAPN10 genetic variants on clinical and biochemical features of metabolic syndrome. PCOS patients were defined by oligo/amenorrheic cycles (<9 cycles/year), increased levels of serum testosterone and/or free androgen index, and exclusion of other disorders associated with hyperandrogenism. IH was diagnosed in hirsute patients with regular ovulatory cycles (luteal-phase progesterone levels >3.8 ng/ml), normal androgen levels, and without any known underlying disease (n = 29). Metabolic syndrome was defined according to the 2001 criteria of the National Cholesterol Education Program, Adult Treatment Panel III. UCSNP-43 polymorphism of CAPN10 was related to metabolic syndrome (p = 0.047) in PCOS; UCSNP-19 and UCSNP-63 were not associated with phenotypic traits in PCOS. These results provide evidence that CAPN10 gene UCSNP-43 polymorphisms may influence the PCOS metabolic phenotype. This should be further confirmed in large population-based studies.

Topics: Adult; Blood Glucose; Body Mass Index; Brazil; Calpain; Female; Hirsutism; Humans; Metabolic Syndrome; Phenotype; Polycystic Ovary Syndrome; Polymorphism, Single Nucleotide

To study three common polymorphisms in intron 3 of the calpain-10 gene (CAPN10) in hyperandrogenic patients.. Case-control study.. Academic hospital.. Ninety-seven hyperandrogenic patients and 37 healthy controls.. Basal and adrenocorticotropin-stimulated serum samples and genomic DNA samples were obtained during the follicular phase of the menstrual cycle.. Genotyping of the UCSNP43, UCSNP44, and UCSNP45 polymorphisms in CAPN10 and serum androgen levels.. Sixteen patients had idiopathic hirsutism, defined as normal serum androgen levels and regular menstrual cycles. Eighty-one hyperandrogenic patients (those presenting with hyperandrogenemic hirsutism or the polycystic ovary syndrome) were analyzed further. UCSNP45 alleles were distributed differently among the study groups. Heterozygosity for the uncommon C allele was increased in patients with idiopathic hirsutism (31.3%) and reduced in hyperandrogenic patients (7.4%) compared with controls (16.2%). The UCSNP44 and UCSNP43 alleles were in linkage disequilibrium, and were distributed equally among patients with idiopathic hirsutism, hyperandrogenism, and controls. However, the uncommon A allele at UCSNP43 was associated with higher hirsutism score (mean [+/- SD], 9.9 +/- 6.8, 12.7 +/- 7.7, and 14.6 +/- 8.2 in GG, GA, and AA participants, respectively). No other differences were observed in clinical and biochemical characteristics, including insulin sensitivity, by CAPN10 variant.. The C allele at the UCSNP45 locus in CAPN10 is associated with idiopathic hirsutism, and UCSNP43 influences the hirsutism score.

Topics: 17-alpha-Hydroxyprogesterone; Adrenocorticotropic Hormone; Adult; Calpain; Case-Control Studies; Cortodoxone; DNA; Female; Follicular Phase; Hirsutism; Humans; Hydrocortisone; Introns; Polymerase Chain Reaction; Polymorphism, Single Nucleotide; Sequence Analysis, DNA; Sex Hormone-Binding Globulin; Statistics, Nonparametric; Testosterone