Table 1 Tests of association by histological subtype for directly genotyped and imputed SNPs at 17q21.31 most strongly associated with invasive epithelial ovarian cancer risk among Europeans.

From: Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31

SNP

Major>minor allele

Coordinate*

MAF

Subtype

Number of cases

(versus 23,491 controls)

Per-allele

OR (95% CI)

P -value

rs1052587‡

44102604

0.22

All invasives

14,533

1.10 (1.06–1.13)

1.9 × 10−7

(T>C)

  

Serous

8,371

1.12 (1.08–1.17)

4.6 × 10−8

   

Endometrioid

2,068

1.11 (1.04–1.19)

5.2 × 10−3

   

Clear cell

1,025

0.98 (0.88–1.09)

0.68

   

Mucinous

944

1.07 (0.96–1.20)

0.22

rs12942666§

43499839

0.22

All invasives

14,533

1.11 (1.07–1.15)

3.3 × 10−8

(A>G)

  

Serous

8,371

1.15 (1.11–1.20)

1.0 × 10−9

   

Endometrioid

2,068

1.10 (1.02–1.18)

0.04

   

Clear Cell

1,025

1.04 (0.92–1.14)

0.61

   

Mucinous

944

1.04 (0.92–1.16)

0.55

rs2960000||

43534353

0.18

All invasives

14,533

1.12 (1.08–1.16)

4.2 × 10−9

(T>C)

  

Serous

8,371

1.16 (1.12–1.20)

3.3 × 10−10

   

Endometrioid

2,068

1.12 (1.03–1.20)

0.01

   

Clear cell

1,025

1.05 (0.93–1.16)

0.44

   

Mucinous

944

1.03 (0.90–1.15)

0.65

  1. Abbreviations: CI, confidence interval; MAF, minor allele frequency in controls; OR, odds ratio.
  2. *Genome build NCBI B37/human genome build 19 assembly.
  3. OR and 95% CI per copy of the minor allele, with adjustment for the first five eigenvalues from principal components analysis.
  4. rs1052587 is the most statistically significant miRNA-binding site SNP among all invasives and serous; it resides in a putative miRNA-binding site between microtubule-associated protein tau (MAPT) and miR-34a-5p (chr 1:9134225-9134425).
  5. §rs12942666 is a SNP at 17q21.31 that was directly genotyped as part of COGS; it is in strong linkage disequilibrium (r2=0.99) with two other 17q21.31 SNPs that were directly genotyped but had less optimal clustering: rs2077606 (P=3.9 × 10−10 for the serous subtype) and rs17631303 (P=4.7 × 10−10 for the serous subtype).
  6. ||rs2960000 represents the most statistically significant SNP at 17q21.31 (among all invasives) that was imputed from the 1000 genome Project reference panel with an R-squared quality metric of 95% or greater (http://www.1000genomes.org/page.php).