Species: human
Mutation name: None
type: naturally occurring
fertility: subfertile
Comment: Four polymorphisms of the CAPN 10 gene and their relationship to polycystic ovary syndrome susceptibility: a meta-analysis. Huang M et al. Objective: To investigate the association between CAPN 10 gene polymorphism and polycystic ovary syndrome (PCOS) susceptibility. Design: Meta-analysis of published case-control studies of four single nucleotide polymorphisms (SNPs) in CAPN 10 and PCOS susceptibility. Patient(s): Women with PCOS. Measurements: Odds ratios (ORs) and 95% confidence intervals (CIs) for heterozygous, homozygous, dominant model, recessive model and allele. Result(s): A total of 11 studies were involved in the meta-analysis. UCSNP-63 was significantly associated with PCOS, with homozygous carriers (TT vs. CC: OR = 0.64; 95% CI: 0.45-0.90) and recessive model (TT vs. CC and CT: OR = 0.64; 95% CI: 0.45-0.90) being protective factors. In addition, UCSNP-19 was significantly associated with PCOS, with recessive model (ins/ins vs. del/del and del/ins: OR = 0.72, 95% CI: 0.59-0.88) and insert allele (ins vs. del: OR = 0.85, 95% CI: 0.76-0.96) being protective factors, while heterozygous carriers (del/ins vs. del/del: OR = 1.56, 95% CI: 1.24-1.94) and deletion allele (del vs. ins: OR = 1.18, 95% CI: 1.04-1.32) being risk factors. However, no significant associations were found between UCSNP-44, -43 and PCOS. Moreover, the results of the Rotterdam criteria subgroup analysis were similar with that of overall analysis. Conclusion(s): This is the first report on the association between CAPN 10 UCSNP-63 and PCOS in genotype, with homozygous carriers and recessive model being protective factors. Additionally, insert allele and recessive model of UCSNP-19 are protective factors while deletion allele and heterozygous genotype are risk factors for PCOS development.

Species: human
Mutation name: None
type: naturally occurring
fertility: subfertile
Comment: Association of CAPN10 SNPs and Haplotypes with Polycystic Ovary Syndrome among South Indian Women. Dasgupta S et al. Polycystic Ovary Syndrome (PCOS) is known to be characterized by metabolic disorder in which hyperinsulinemia and peripheral insulin resistance are central features. Given the physiological overlap between PCOS and type-2 diabetes (T2DM), and calpain 10 gene (CAPN10) being a strong candidate for T2DM, a number of studies have analyzed CAPN10 SNPs among PCOS women yielding contradictory results. Our study is first of its kind to investigate the association pattern of CAPN10 polymorphisms (UCSNP-44, 43, 56, 19 and 63) with PCOS among Indian women. 250 PCOS cases and 299 controls from Southern India were recruited for this study. Allele and genotype frequencies of the SNPs were determined and compared between the cases and controls. Results show significant association of UCSNP-44 genotype CC with PCOS (p?=?0.007) with highly significant odds ratio when compared to TC (OR?=?2.51, p?=?0.003, 95% CI?=?1.37-4.61) as well as TT (OR?=?1.94, p?=?0.016, 95% CI?=?1.13-3.34). While the haplotype carrying the SNP-44 and SNP-19 variants (21121) exhibited a 2 fold increase in the risk for PCOS (OR?=?2.37, p?=?0.03), the haplotype containing SNP-56 and SNP-19 variants (11221) seems to have a protective role against PCOS (OR?=?0.20, p?=?0.004). Our results support the earlier evidence for a possible role of UCSNP-44 of the CAPN10 gene in the manifestation of PCOS.

Species: human
Mutation name: None
type: naturally occurring
fertility: subfertile
Comment: Calpain-10 genetic polymorphisms and polycystic ovary syndrome risk: A meta-analysis and meta-regression. Shen W 2013 et al. Recent evidences suggest that common functional polymorphisms in the promoter region of the Calpain-10 gene may have an impact on an individual's susceptibility to polycystic ovary syndrome (PCOS), but individually published results are inconclusive. Our meta-analysis is aimed to provide a more precise estimation of the relationships between Calpain-10 genetic polymorphisms and PCOS risk. An extensive literature search for relevant studies was conducted on PubMed, Embase, Web of Science, Cochrane Library, and CBM databases from inception through April 1st, 2013. This meta-analysis was performed using the STATA 12.0 software. The crude odds ratio (OR) with 95% confidence interval (CI) were calculated. Fourteen case-control studies were included with a total of 2,123 PCOS patients and 3,612 healthy controls. Nine common SNPs in the Calpain-10 gene were addressed. Our meta-analysis indicated that UCSNP-19, UCSNP-63 and UCSNP-45 polymorphisms in the Calpain-10 gene might be associated with increased PCOS risk. However, no statistically significant association was observed in UCSNP-43, UCSNP-22, UCSNP-43, UCSNP-45, UCSNP-56, UCSNP-58, and UCSNP-110 polymorphisms. Further subgroup analysis by ethnicity revealed that UCSNP-19, UCSNP-63 and UCSNP-45 polymorphisms might decrease the risk of S PCOS among Asian populations, but not among Caucasian populations. The current meta-analysis indicates that UCSNP-19, UCSNP-63 and UCSNP-45 polymorphisms in the Calpain-10 gene may be risk factors for PCOS, especially among Asian populations. /////////////////////////

Species: human
Mutation name: None
type: naturally occurring
fertility: subfertile
Comment: Common polymorphisms of calpain-10 and the risk of polycystic ovary syndrome in Tunisian population: a case-control study. Ben Salem A 2014 et al. Recent studies have suggested that calpain-10 (CAPN10) gene polymorphisms play a role in the susceptibility to polycystic ovary syndrome (PCOS). The aim of the present study was to evaluate the possible association between three single nucleotide polymorphisms (SNPs) in CAPN10 gene: UCSNP-43 (rs3792267), UCSNP-19 (rs3842570), and UCSNP-63 (rs5030952) and PCOS in Tunisian cases and control women. Study subjects included 127 women with PCOS (mean age 29.84.7year) and 150 healthy women (mean age 33.55.6year). CAPN10 genotyping was carried-out by direct PCR and PCR-RFLP. Linkage disequilibrium pattern in the genomic region explored was determined by HAPLOVIEW 4.2 while reconstruction of haplotypes was done using PHASE 2.1. The phylogenetic distribution of haplotypes in the population was determined by ARLEQUIN 2.000. Six haplotypes were observed. None of SNPs associated with PCOS or its components while the haplotype H4 associated with the phenotype PCOS-obese (P<0.025). Moreover the pair of haplotypes H1/H4 strongly associated with high blood-pressure (OR=14.4, P<0.012). This work confirms the association of CAPN10 gene with metabolic components in PCOS and highlights the role of haplotypes as strong and efficient genetic markers. /////////////////////////