rs7204454
This is a regulatory region variant variant in the CDH13 gene.
▶Research that mentions this SNP (1)
▶Use of longitudinal data in genetic studies in the genome‐wide association studies era: summary of Group 14ReviewN=14,658Kerner B. et al.(2009)· Genetic Epidemiology
This is a summary of Group 14 analyses from the Genetic Analysis Workshop 16 (GAW16) demonstrating the use of longitudinal data from the Framingham Heart Study in genome-wide association studies. Multiple analytical approaches were compared for identifying genetic associations with metabolic and cardiovascular traits including BMI, type 2 diabetes, blood pressure, lipid levels, and coronary heart disease, using various statistical methods such as linear mixed models, growth mixture modeling, and generalized estimating equations.
About CDH13
This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011]
View all CDH13 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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