Table 1.
Summary of the top GWAS and imputed SNP associations with metastasis at diagnosis in the discovery and replication studies.
dbSNP locus | Chr: Positiona | Alleleb | Stage | Ancestryc | Cases with mets.
|
Cases without mets.
|
P value | OR (95% CI) | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | EAF | Total | EAF | |||||||
rs2890982 | Chr9: 14181653 |
C/T | Discovery | EUR | 122 | 0.25 | 419 | 0.11 | 4.36 × 10−7 | 2.69 (1.83–3.94) |
9p24.1 | Replication 1 | EUR | 24 | 0.33 | 61 | 0.12 | 3.71 × 10−3 | 3.38 (1.47–7.80) | ||
Replication 2 | EUR | 19 | 0.16 | 122 | 0.13 | 0.571 | 1.35 (0.47–3.87) | |||
Combined | EUR | 165 | 602 | 4.98 × 10−8 | 2.60 (1.87–3.62) | |||||
| ||||||||||
rs7034162 | Chr9: 14190287 |
T/A | Discovery | EUR | 122 | 0.25 | 419 | 0.11 | 1.37 × 10−7 | 2.87 (1.94–4.24) |
9p24.1 | Replication 1 | EUR | 24 | 0.29 | 61 | 0.10 | 4.03 × 10−3 | 3.14 (1.37–7.20) | ||
Replication 2 | EUR | 19 | 0.11 | 122 | 0.12 | 0.723 | 0.81 (0.25–2.62) | |||
Combined | EUR | 165 | 602 | 3.29 × 10−8 | 2.62 (1.86–3.68) | |||||
Replication 3 | AFR | 22 | 0.43 | 39 | 0.25 | 0.061 | 2.08 (0.97–4.47) | |||
Replication 4 | Brazil | 40 | 0.21 | 67 | 0.12 | 0.078 | 1.97 (0.93–4.18) | |||
Combined | All | 227 | 708 | 1.22 × 10−9 | 2.43 (1.83–3.24) |
Abbreviations: EAF, effect (coded) allele frequency; mets., metastasis at diagnosis; OR, odds ratio; CI, confidence interval.
EUR, European ancestry; AFR, African ancestry; Brazil, Brazilian ancestry.
Build 36 position;
Reference/Effect allele;
Ancestry based on a STRUCTURE and principal component analysis.