rs10881166 - RNPC3-DT

Magnitude 4.5 · 1 study on file

Reported associations

• Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants - Unknown journal (n.d.) · Unknown authors · PubMed 36599956

  ABSTRACT: Amylase activity and levels in humans are heritable quantitative traits. Although many studies exist on the effects of copy-number variants (CNVs) in amylase genes (AMY) on human phenotypes, such as body mass index (BMI), the genetic factors controlling interindividual variation in amylase levels remain poorly understood. Here, we conducted a genome-wide association study (GWAS) of serum amylase levels (SAL) in 814 Japanese individuals to identify associated single-nucleotide variants (SNVs), after adjusting for non-genetic factors. Diploid copy numbers (CN) of AMY (AMY1, AMY2A, and AMY2B) were measured using droplet digital PCR to examine the association between each diploid CN and SAL. We further assessed the relative contribution of the GWAS-lead SNV and AMY CNVs to SAL. GWAS

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