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  • Beaney, KE, et al. (författare)
  • Functional Analysis of the Coronary Heart Disease Risk Locus on Chromosome 21q22
  • 2017
  • Ingår i: Disease markers. - : Hindawi Limited. - 1875-8630 .- 0278-0240. ; 2017, s. 1096916-
  • Tidskriftsartikel (refereegranskat)abstract
    • Background. The coronary heart disease (CHD) risk locus on 21q22 (lead SNP rs9982601) lies within a “gene desert.” The aim of this study was to assess if this locus is associated with CHD risk factors and to identify the functional variant(s) and gene(s) involved.Methods. A phenome scan was performed with UCLEB Consortium data. Allele-specific protein binding was studied using electrophoretic mobility shift assays. Dual-reporter luciferase assays were used to assess the impact of genetic variation on expression. Expression quantitative trait analysis was performed with Advanced Study of Aortic Pathology (ASAP) and Genotype-Tissue Expression (GTEx) consortium data.Results. A suggestive association between QT interval and the locus was observed (rs9982601  p=0.04). One variant at the locus, rs28451064, showed allele-specific protein binding and its minor allele showed 12% higher luciferase expression (p= 4.82 × 10−3) compared to the common allele. The minor allele of rs9982601 was associated with higher expression of the closest upstream genes (SLC5A31.30-fold increasep= 3.98 × 10−5;MRPS61.15-fold increasep= 9.60 × 10−4) in aortic intima media in ASAP. Both rs9982601 and rs28451064 showed a suggestive association withMRPS6expression in relevant tissues in the GTEx data.Conclusions. A candidate functional variant, rs28451064, was identified. Future work should focus on identifying the pathway(s) involved.
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