rs1376251
This is a protein-altering variant in the PRH1 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 PRH1
This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. Multiple distinct alleles of this locus including the parotid isoelectric-focusing variant slow (PIF-s), the parotid acidic protein (Pa), and the double band slow (Db-s) isoforms have been characterized. The reference genome encodes the Db-s allele. Certain alleles of this gene are associated with susceptibility to dental caries. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Co-transcription of this gene with adjacent genes has been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
View all PRH1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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