Species: human
Mutation name:
type: naturally occurring
fertility: subfertile
Comment: A single nucleotide polymorphism in exon 7 of sorbin and SH3-domain-containing-1 (SORBS1) in Korean PCOS patients. Park JM et al. (2011) Patients with polycystic ovarian syndrome (PCOS) are characterized by high levels of androgens, irregular or no menstrual cycle and increased hair growth. In addition, insulin resistance and glucose tolerance are caused in patients with PCOS. It was recently reported that PCOS in women is associated with a single nucleotide polymorphism (SNP) of genes, including the sorbin and SH3-domain-containing-1 (SORBS1) gene involved in insulin resistance and glucose uptake. SORBS1, which belongs to the sorbin homology (SoHo) family of proteins, becomes protein-protein interaction through three SH3 domains. In addition, SORBS1 is related to c-Cbl-associated protein (CAP) that has interacted with the downstream signaling components of glucose uptake. We therefore studied the association between the SNP of the SORBS1 gene and PCOS in a Korean population. SORBS1 raises glucose uptake and insulin resistance. The frequency of G allele was slightly higher in the patient group (n=233) than in the control group (n=105). A statistically significant relationship was found between the SNP in exon 7 of the SORBS1 gene and PCOS in a Korean population group.//////////////////