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Discovery of novel heart rate-associated loci using the Exome Chip (CROSBI ID 238625)

Prilog u časopisu | izvorni znanstveni rad

van den Berg M.E. ; ... ; Polašek , Ozren ; ... ; Kolčić, Ivana ; ... ; Munroe, Patricia Discovery of novel heart rate-associated loci using the Exome Chip // Human molecular genetics, 26 (2017), 12; 2346-2363. doi: 10.1093/hmg/ddx113

Podaci o odgovornosti

van den Berg M.E. ; ... ; Polašek , Ozren ; ... ; Kolčić, Ivana ; ... ; Munroe, Patricia

engleski

Discovery of novel heart rate-associated loci using the Exome Chip

Resting heart rate is a heritable trait, and an increase in heart rate is associated with increased mortality risk. GWAS analyses have found loci associated with resting heart rate, at the time of our study these loci explained 0.9% of the variation. To discover new genetic loci associated with heart rate from Exome Chip meta-analyses. Heart rate was measured from either elecrtrocardiograms or pulse recordings. We meta- analysed heart rate association results from 104, 452 European- ancestry individuals from 30 cohorts, genotyped using the Exome Chip. Twenty- four variants were selected for follow-up in an independent dataset (UK Biobank, N = 134, 251). Conditional and gene-based testing was undertaken, and variants were investigated with bioinformatics methods. We discovered five novel heart rate loci, and one new independent low-frequency non- synonymous variant in an established heart rate locus (KIAA1755). Lead variants in four of the novel loci are non-synonymous variants in the genes C10orf71, DALDR3, TESK2, SEC31B. The variant at SEC31B is significantly associated with SEC31B expression in heart and tibial nerve tissue. Further candidate genes were detected from long range regulatory chromatin interactions in heart tissue (SCD, SLF2, MAPK8). We observed significant enrichment in DNase I hypersensitive sites in fetal heart and lung. Moreover, enrichment was seen for the first time in human neuronal progenitor cells (derived from embryonic stem cells) and fetal muscle samples by including our novel variants. Our findings advance the knowledge of the genetic architecture of heart rate, and indicate new candidate genes for follow-up functional studies.

heart rate ; exome ; meta-analysis

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Podaci o izdanju

26 (12)

2017.

2346-2363

objavljeno

0964-6906

1460-2083

10.1093/hmg/ddx113

Povezanost rada

Javno zdravstvo i zdravstvena zaštita, Kliničke medicinske znanosti, Temeljne medicinske znanosti

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