Rare genetic variants explain missing heritability in smoking
Jang, S.-K. ; Melander, O. LU
and Vrieze, S.
(2022)
In Nature Human Behaviour
6(11).
p.1577-1586
- Abstract
- Common genetic variants explain less variation in complex phenotypes than inferred from family-based studies, and there is a debate on the source of this ‘missing heritability’. We investigated the contribution of rare genetic variants to tobacco use with whole-genome sequences from up to 26,257 unrelated individuals of European ancestries and 11,743 individuals of African ancestries. Across four smoking traits, single-nucleotide-polymorphism-based heritability (hSNP2) was estimated from 0.13 to 0.28 (s.e., 0.10–0.13) in European ancestries, with 35–74% of it attributable to rare variants with minor allele frequencies between 0.01% and 1%. These heritability estimates are 1.5–4 times higher than past estimates based on common variants... (More)
- Common genetic variants explain less variation in complex phenotypes than inferred from family-based studies, and there is a debate on the source of this ‘missing heritability’. We investigated the contribution of rare genetic variants to tobacco use with whole-genome sequences from up to 26,257 unrelated individuals of European ancestries and 11,743 individuals of African ancestries. Across four smoking traits, single-nucleotide-polymorphism-based heritability (hSNP2) was estimated from 0.13 to 0.28 (s.e., 0.10–0.13) in European ancestries, with 35–74% of it attributable to rare variants with minor allele frequencies between 0.01% and 1%. These heritability estimates are 1.5–4 times higher than past estimates based on common variants alone and accounted for 60% to 100% of our pedigree-based estimates of narrow-sense heritability (hped2, 0.18–0.34). In the African ancestry samples, hSNP2 was estimated from 0.03 to 0.33 (s.e., 0.09–0.14) across the four smoking traits. These results suggest that rare variants are important contributors to the heritability of smoking. © 2022, The Author(s), under exclusive licence to Springer Nature Limited. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/4cc76733-b522-40af-bf2b-a80714efc018
- author
- Jang, S.-K.
; Melander, O.
LU
and Vrieze, S.
- author collaboration
- organization
- publishing date
- 2022-11
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Nature Human Behaviour
- volume
- 6
- issue
- 11
- pages
- 10 pages
- publisher
- Nature Publishing Group
- external identifiers
-
- scopus:85135583971
- pmid:35927319
- ISSN
- 2397-3374
- DOI
- 10.1038/s41562-022-01408-5
- language
- English
- LU publication?
- yes
- id
- 4cc76733-b522-40af-bf2b-a80714efc018
- date added to LUP
- 2022-09-16 12:54:48
- date last changed
- 2024-01-16 02:32:35
@article{4cc76733-b522-40af-bf2b-a80714efc018,
abstract = {{Common genetic variants explain less variation in complex phenotypes than inferred from family-based studies, and there is a debate on the source of this ‘missing heritability’. We investigated the contribution of rare genetic variants to tobacco use with whole-genome sequences from up to 26,257 unrelated individuals of European ancestries and 11,743 individuals of African ancestries. Across four smoking traits, single-nucleotide-polymorphism-based heritability (hSNP2) was estimated from 0.13 to 0.28 (s.e., 0.10–0.13) in European ancestries, with 35–74% of it attributable to rare variants with minor allele frequencies between 0.01% and 1%. These heritability estimates are 1.5–4 times higher than past estimates based on common variants alone and accounted for 60% to 100% of our pedigree-based estimates of narrow-sense heritability (hped2, 0.18–0.34). In the African ancestry samples, hSNP2 was estimated from 0.03 to 0.33 (s.e., 0.09–0.14) across the four smoking traits. These results suggest that rare variants are important contributors to the heritability of smoking. © 2022, The Author(s), under exclusive licence to Springer Nature Limited.}},
author = {{Jang, S.-K. and Melander, O. and Vrieze, S.}},
issn = {{2397-3374}},
language = {{eng}},
number = {{11}},
pages = {{1577--1586}},
publisher = {{Nature Publishing Group}},
series = {{Nature Human Behaviour}},
title = {{Rare genetic variants explain missing heritability in smoking}},
url = {{http://dx.doi.org/10.1038/s41562-022-01408-5}},
doi = {{10.1038/s41562-022-01408-5}},
volume = {{6}},
year = {{2022}},
}