Characterizing rare and low-frequency height-associated variants in the Japanese population.
Adult
Asian People
/ genetics
Body Height
/ genetics
Fatty Acid Transport Proteins
/ genetics
Female
Gene Frequency
Genetic Variation
Genome-Wide Association Study
/ methods
Genotype
Humans
Japan
Male
Phenotype
Polymorphism, Single Nucleotide
Quantitative Trait Loci
/ genetics
Retinoic Acid 4-Hydroxylase
/ genetics
Journal
Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555
Informations de publication
Date de publication:
27 09 2019
27 09 2019
Historique:
received:
14
09
2018
accepted:
27
08
2019
entrez:
29
9
2019
pubmed:
29
9
2019
medline:
14
1
2020
Statut:
epublish
Résumé
Human height is a representative phenotype to elucidate genetic architecture. However, the majority of large studies have been performed in European population. To investigate the rare and low-frequency variants associated with height, we construct a reference panel (N = 3,541) for genotype imputation by integrating the whole-genome sequence data from 1,037 Japanese with that of the 1000 Genomes Project, and perform a genome-wide association study in 191,787 Japanese. We report 573 height-associated variants, including 22 rare and 42 low-frequency variants. These 64 variants explain 1.7% of the phenotypic variance. Furthermore, a gene-based analysis identifies two genes with multiple height-increasing rare and low-frequency nonsynonymous variants (SLC27A3 and CYP26B1; P
Identifiants
pubmed: 31562340
doi: 10.1038/s41467-019-12276-5
pii: 10.1038/s41467-019-12276-5
pmc: PMC6764965
doi:
Substances chimiques
Fatty Acid Transport Proteins
0
SLC27A4 protein, human
0
Retinoic Acid 4-Hydroxylase
EC 1.14.14.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
4393Commentaires et corrections
Type : ErratumIn
Références
Am J Hum Genet. 2012 Jan 13;90(1):7-24
pubmed: 22243964
Nat Commun. 2016 Nov 16;7:13490
pubmed: 27848971
Nat Genet. 2017 Oct;49(10):1458-1467
pubmed: 28892062
Nat Genet. 2012 Mar 18;44(4):369-75, S1-3
pubmed: 22426310
Nat Genet. 2015 Nov;47(11):1352-1356
pubmed: 26366551
Nat Commun. 2018 Apr 24;9(1):1631
pubmed: 29691385
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Nat Commun. 2015 Jan 19;6:5890
pubmed: 25597830
Nat Genet. 2016 Jul;48(7):811-6
pubmed: 27270109
PLoS Comput Biol. 2016 Jan 25;12(1):e1004714
pubmed: 26808494
Nat Methods. 2011 Dec 04;9(2):179-81
pubmed: 22138821
Biochem Biophys Res Commun. 2017 Apr 1;485(2):400-408
pubmed: 28213129
Nat Genet. 2014 Nov;46(11):1173-86
pubmed: 25282103
Nat Genet. 2015 Oct;47(10):1114-20
pubmed: 26323059
Nature. 2017 Feb 9;542(7640):186-190
pubmed: 28146470
Am J Hum Genet. 2017 Jun 1;100(6):865-884
pubmed: 28552196
Nat Genet. 2015 Mar;47(3):284-90
pubmed: 25642633
Science. 2007 Feb 16;315(5814):972-6
pubmed: 17218491
Hum Mol Genet. 2018 Oct 15;27(20):3641-3649
pubmed: 30124842
Nat Genet. 2012 Sep;44(9):1015-9
pubmed: 22902787
J Epidemiol. 2017 Mar;27(3S):S2-S8
pubmed: 28189464
J Epidemiol. 2017 Mar;27(3S):S9-S21
pubmed: 28190657
Nat Genet. 2015 Mar;47(3):291-5
pubmed: 25642630
Nat Genet. 2018 Mar;50(3):390-400
pubmed: 29403010
PLoS Genet. 2009 Jun;5(6):e1000529
pubmed: 19543373
Nature. 2005 Oct 27;437(7063):1299-320
pubmed: 16255080
Genet Epidemiol. 2010 Dec;34(8):816-34
pubmed: 21058334
Am J Hum Genet. 2011 Nov 11;89(5):595-606
pubmed: 22019272
Am J Hum Genet. 2011 Jan 7;88(1):76-82
pubmed: 21167468
Hum Mol Genet. 2015 Mar 15;24(6):1791-800
pubmed: 25429064
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245
Nucleic Acids Res. 2016 Jan 4;44(D1):D279-85
pubmed: 26673716
Am J Hum Genet. 2007 Sep;81(3):559-75
pubmed: 17701901
Nat Commun. 2015 Sep 14;6:8111
pubmed: 26368830
Am J Hum Genet. 2012 Aug 10;91(2):224-37
pubmed: 22863193