UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits
收藏NIAID Data Ecosystem2026-05-01 收录
下载链接:
https://zenodo.org/record/6631951
下载链接
链接失效反馈官方服务:
资源简介:
Summary-level GWAS data for 53 traits generated by Genomics plc as presented in:
Thompson D. et al. UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits (https://doi.org/10.1101/2022.06.16.22276246)
If you have any questions or comments regarding these files, please contact Genomics plc at research@genomicsplc.com
NOTES
These analyses were carried out using the full UK Biobank (UKB) imputation data release (v3b). After removal of exclusions and withdrawals, a subset of 337,151 UKB individuals, the White British Unrelated (WBU) subgroup, was defined as the intersection of two sample groups created by Bycroft et al 2018 (Nature 562, 203-209): the ‘White British ancestry’ group (UKB Data Field 22006) and the ‘used in genetic principal components’ group (UKB Data Field 22020), the latter being high quality samples that were filtered to avoid closely related individuals. All GWAS analyses were performed on the WBU subgroup.
Phenotypes were defined as described in Supplementary Table 1 ‘Phenotype definitions’ using a combination of Hospital Episode Statistics, Cancer Registry reports (where applicable) and self-report responses.
All analyses included Age at assessment, sex (for non-sex specific traits), genotyping chip, and 10 principal components as covariates.
GWAS summary statistics for each trait were generated by applying PLINK 2.0 to the WBU subgroup, using a logistic regression for disease traits, and a linear regression model for quantitative traits. For chromosome X variants males were treated as having 0 or 2 alternative alleles.
The results are not adjusted for genomic control.
DATA FILE CONTENT DESCRIPTION (DISEASE TRAITS)
cpra
Variant ID in ‘CPRA’ format. Position reflects position in b37
chrom
Chromosome
pos
Position in base pairs (b37, 1-based)
alt
Alternative allele (effect allele)
beta
Effect size (log odds ratio)
standard_error
Standard error of beta
minus_log10_p
Minus log(base 10) of P-value
ref
Reference allele (non-effect allele)
ncase
Number of cases
ncontrol
Number of controls
DATA FILE CONTENT DESCRIPTION (QUANTITATIVE TRAITS)
cpra
Variant ID in ‘CPRA’ format. Position reflects position in b37
chrom
Chromosome
pos
Position in base pairs (b37, 1-based)
alt
Alternative allele (effect allele)
beta
Effect size (log odds ratio
standard_error
Standard error of beta
minus_log10_p
Minus log(base 10) of P-value
ref
Reference allele (non-effect allele)
ntotal
Total sample size
PHENOTYPE CODES
The following is a list of traits and their phenotype codes (as used in file naming).
DISEASE TRAITS
Age-related macular degeneration
AMD
Alzheimer's disease
AD
Asthma
AST
Atrial fibrillation
AF
Bipolar disorder
BD
Bowel cancer
CRC
Breast cancer
BC
Cardiovascular disease
CVD
Coeliac disease
CED
Coronary artery disease
CAD
Crohn's disease
CD
Epithelial ovarian cancer
EOC
Hypertension
HT
Ischaemic stroke
ISS
Melanoma
MEL
Multiple sclerosis
MS
Osteoporosis
OP
Prostate cancer
PC
Parkinson's disease
PD
Primary open angle glaucoma
POAG
Psoriasis
PSO
Rheumatoid arthritis
RA
Schizophrenia
SCZ
Systemic lupus erythematosus
SLE
Type 1 diabetes
T1D
Type 2 diabetes
T2D
Ulcerative colitis
UC
Venous thromboembolic disease
VTE
QUANTITATIVE TRAITS
Age at menopause
AAM
Apolipoprotein A1
APOEA
Apolipoprotein B
APOEB
Body mass index
BMI
Calcium
ACALMD
Docosahexaenoic acid
DOA
Estimated bone mineral density T-score
EBMDT
Estimated glomerular filtration rate (creatinine based)
EGCR
Estimated glomerular filtration rate (cystatin based)
EGCY
Glycated haemoglobin
HBA1C_DF
High density lipoprotein cholesterol
HDL
Height
HEIGHT
Intraocular pressure
IOP
Low density lipoprotein cholesterol
LDL_SF
Omega-6 fatty acids
OSFA
Omega-3 fatty acids
OTFA
Phosphatidylcholines
PDCL
Phosphoglycerides
PHG
Polyunsaturated fatty acids
PFA
Resting heart rate
RHR
Remnant cholesterol (Non-HDL, Non-LDL cholesterol)
RMNC
Sphingomyelins
SGM
Total cholesterol
TCH
Total fatty acids
TFA
Total triglycerides
TTG
创建时间:
2023-04-18



