Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome

Abstract

These results suggest a role of CAPN5 gene in PCOS susceptibility in humans. Moreover, novel candidate risk alleles have been identified, within CAPN5 gene, which could be associated with important phenotypic and prognosis differences observed in PCOS patients.

Association study between single nucleotide polymorphisms in the VEGF gene and polycystic ovary syndrome

“…Recently, it has been reported that insulin and insulin receptor (INSR) genes play a role as genetic factors because women with PCOS have an increased probability of having type 2 diabetes (16). Other genes including peroxisome proliferator-activated receptor gamma (PPARg), which has a role in glucose metabolism and adipocyte maturation, calpain-10 (CAPN10), which facilitates GLUT4 translocation, calpain-5 (CAPN5), which is an homologue of calpain-10, adiponectin, which has been analyzed as a candidate gene for type 2 diabetes mellitus, and glycoprotein 1 (PC1), which inhibits insulin signaling have been investigated for association between SNPs in these genes and PCOS (17)(18)(19)(20)(21)(22).…”

Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels

“…These last two SNPs are located in the coding region of the OMP gene, an intronic gene integrated in the non-coding region of CAPN5 gene, so the aminoacids encoded by the OMP gene are not present in the CAPN5 protein. These SNPs were selected because they had been associated with PCOS, an insulin resistance related phenotype, in a previous work by our group [18]. The genotyping of the selected SNPs was performed according to described procedures [18].…”

“…In a previous work, we analyzed four CAPN5 gene variants (rs948976, rs4945140, rs2233546 and rs2233549) in 148 PCOS women [18]. We found that specific CAPN5 haplotypes were overrepresented in PCOS patients.…”

Calpain 5 Is Highly Expressed in the Central Nervous System (CNS), Carries Dual Nuclear Localization Signals, and Is Associated with Nuclear Promyelocytic Leukemia Protein Bodies

“…However, another Capn5 null mutant allele (Capn5 tm1Dgen ) is embryonically lethal (Mouse Genome Informatics ID 3604529). CAPN5 polymorphisms have been associated with autoimmune retinal neurodegeneration (19), polycystic ovary syndrome (20), endometriosis (21), diabetes (22), and Huntington disease (23). Based on the importance of TRA-3 in neuron death in C. elegans and the relatively high expression of Capn5 mRNA in the brain, we sought to further explore CAPN5 in the mammalian CNS.…”