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Genetics of skeletal proportions in two different populations.

Authors :
Bartell E
Lin K
Tsuo K
Gan W
Vedantam S
Cole JB
Baronas JM
Yengo L
Marouli E
Amariuta T
Chen Z
Li L
Renthal NE
Jacobsen CM
Salem RM
Walters RG
Hirschhorn JN
Source :
BioRxiv : the preprint server for biology [bioRxiv] 2023 May 30. Date of Electronic Publication: 2023 May 30.
Publication Year :
2023

Abstract

Human height can be divided into sitting height and leg length, reflecting growth of different parts of the skeleton whose relative proportions are captured by the ratio of sitting to total height (as sitting height ratio, SHR). Height is a highly heritable trait, and its genetic basis has been well-studied. However, the genetic determinants of skeletal proportion are much less well-characterized. Expanding substantially on past work, we performed a genome-wide association study (GWAS) of SHR in ∼450,000 individuals with European ancestry and ∼100,000 individuals with East Asian ancestry from the UK and China Kadoorie Biobanks. We identified 565 loci independently associated with SHR, including all genomic regions implicated in prior GWAS in these ancestries. While SHR loci largely overlap height-associated loci (P < 0.001), the fine-mapped SHR signals were often distinct from height. We additionally used fine-mapped signals to identify 36 credible sets with heterogeneous effects across ancestries. Lastly, we used SHR, sitting height, and leg length to identify genetic variation acting on specific body regions rather than on overall human height.

Details

Language :
English
ISSN :
2692-8205
Database :
MEDLINE
Journal :
BioRxiv : the preprint server for biology
Publication Type :
Academic Journal
Accession number :
37292977
Full Text :
https://doi.org/10.1101/2023.05.22.541772