Table 1 Sample size, ancestry and genetic data type of all cohorts used in the gene-level and single variant-level genetic association meta-analyses

From: Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases

Cohort

Genetic Ancestry

Genetic Data

Total PCa Cases (n)

Agg. PCa (n)

non-Agg. PCa (n)

Controls (n)

Variant-level testing inclusion

UKB

EUR

WES

14,577

1641

12,936

115,247

Yes

MCPS

AMR

WES

282

181

101

35,801

Yes

100kGP

EUR

WGS

1011

83

928

8759

Yes

NYBAZ Study

EUR

WES

2200

995

1205

17,600 (UKB)

No

AZCT

EUR

WES

1230

1230

0a

3226

No

UKB

AFR

WES

349

-

-

2119

Yes

UKB

SAS

WES

131

-

-

3889

Yes

AZCT

EAS

WES

77

77

-

650

No

NYBAZ Study

AFR

WES

69

-

-

414 (UKB)

No

Gene-level testing total

-

-

19,926

4207

15,170

187,705

-

FinnGen

Finnish

Imputed Genotypes

17,258

-

-

143,624

Yes

Variant-level testing total

-

-

33,608

1905

13,965

309,439

-

  1. Aggressive prostate cancer (Agg. PCa) is defined by tumour stage T4/N1/M1, Gleason score ≥ 8, prostate cancer as underlying cause of death, metastatic prostate cancer, prostate cancer treated with chemotherapy or castration resistant prostate cancer.
  2. PCa prostate cancer, non-Agg. PCa non-aggressive prostate cancer, UKB UK Biobank, MCPS Mexico City prospective Study, 100kGP 100,000 Genomes Project, NYBAZ Study New York-Boston-AstraZeneca prostate cancer study, AZCT AstraZeneca Clinical Trials, EUR European, AMR Admixed American, AFR African, SAS South Asian, EAS East Asian, WES whole exome sequencing, WGS whole genome sequencing.
  3. aFor the clinical trial cohort Agg. PCa Vs non-Agg. PCa analysis in EUR, a subset of non-aggressive UKB cases were used as this cohort contained none.
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