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A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank
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A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank
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Journal Article
A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank
2024
Overview
Most genetic association studies focus on binary variants. To identify the effects of multi-allelic variation of tandem repeats (TRs) on human traits, we perform direct TR genotyping and phenome-wide association studies in 168,554 individuals from the UK Biobank, identifying 47 TRs showing fine-mapped associations with 73 traits. We replicate 23 of 31 (74%) of these associations in the All of Us cohort. While this set includes several known repeat expansion disorders, novel associations we found are attributable to common polymorphic variation in TR length rather than rare expansions and include
e.g
. a coding polyhistidine motif in
HRCT1
influencing risk of hypertension and a poly(CGC) in the 5’UTR of
GNB2
influencing heart rate. Fine-mapped TRs are strongly enriched for associations with local gene expression and DNA methylation. Our study highlights the contribution of multi-allelic TRs to the “missing heritability” of the human genome.
Most genetic association studies focus on bi-allelic single nucleotide variants (SNVs). Here, to investigate the possibility that multi-allelic variation of short tandem repeats influences human traits, the authors perform a phenome-wide association study in the UK Biobank, identifying novel associations missed by traditional SNV-based genome-wide association analyses.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
