Case-control and family-based association analysis of the PPP1R1B gene in a cohort of 112 male-only affected sib-pair ASD families and a comparison cohort of 443 controls revealed an increased frequency of the rs1495099 CC (p=0.002), rs907094 (p=0.028), and rs3764352 GG (p=0.025) genotypes in affected males compared to the comparison group (Hettinger et al., 2012). Family-based association tests in the same report showed significant over-transmission of the rs1495099 C allele (p=0.00092) to affected males under a recessive model.
Molecular Function
Inhibitor of protein-phosphatase 1. This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status ...
