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Table 2 Top ranking SNPs identified from pooled genome wide association study and validation genotyping in the discovery cohort

From: Pooled genome wide association detects association upstream of FCRL3 with Graves’ disease

   

GWAS pooled genotyping (Cases = 412, Controls = 498)

Validation individual genotyping (Cases = 412, Controls = 480)

SNP name

Location chr and bp

Gene

A1

P value

OR_A1

F_A

F_U

P value*

OR_A1*

(95 % CI)

Rs9676286

Chr19q13.43

58126481

ZNF134 intron

A

1.08 × 10−8

2.08

0.047

0.023

5.54 × 10−3

2.28 (1.27, 4.09)

rs9644119

Chr8p21.2

26517817

DPYSL2

2124 bp downstream

T

9.10 × 10-8

1.78

0.177

0.128

0.033

1.36 (1.03, 1.79)

rs11722643

Chr4p16.1

10127484

Intergenic

WDR1 upstream, ZNF518B downstream

T

1.03 × 10−7

1.88

0.101

0.054

1.38 × 10−3

1.91 (1.28, 2.83)

Rs686806

Chr 11q22.3

107228533

CWF19L2 intron

T

2.36 × 10−7

1.70

0.242

0.168

9.6 × 10−4

1.53 (1.19, 1.97)

rs62469516

Chr7q21.13

88958624

ZNF804B intron

A

2.68 × 10−7

0.51

0.043

0.088

5.73 × 10−5

0.41 (0.26, 0.63)

rs73452600

Chr 7q34

142828104

PIP 1070 bp upstream

A

3.49 × 10−7

1.90

0.099

0.061

3.37 × 10−3

1.80 (1.22, 2.67)

Rs1662312

Chr 18p11.31

3220450

MYOM1 upstream

A

5.72 × 10−7

0.51

0.040

0.080

5.33 × 10−4

0.45 (0.29, 0.71)

rs1469893

Chr 15q14

34988664

GJD2

56015 bp

Downstream

A

6.58 × 10−7

0.58

0.05

0.104

6.86 × 10−5

0.44 (0.29, 0.66)

Rs17676303

Chr 1q23.1

157679691

FCRL3

9044 bp upstream

T

8.05 × 10−7

1.68

0.254

0.150

1.14 × 10−8

2.05 (1.57, 2.67)

rs28578508

Chr18q12.1

32316007

DTNA intron

A

8.16 × 10−7

0.56

0.062

0.099

2.80 × 10−3

0.56 (0.39, 0.82)

rs78542322

Chr 6q14.1

77291670

Intergenic

IMPG1 upstream

HTR1B downstream

T

9.82 × 10−7

0.52

0.071

0.141

3.27 × 10−5

0.47 (0.33, 0.67)

Rs3818779

Chr 10q26.11

121140671

GRK5 intron

A

1.51 × −6

1.94

0.059

0.029

2.08 × 10−3

2.30 (1.35, 3.9)

rs2141440

Chr 11q14.3

90898463

Intergenic MIR4490 and FAT3

A

4.48 × 10−6

0.58

0.078

0.097

0.34

0.84 (0.59, 1.20)

  1. F_U is individual genotyping minor allele frequency A1 in normal control, F_A is the allele frequency in Graves’ disease
  2. OR is odd ratio for having minor allele in Graves’ cases compared to normal controls
  3. *P values and odds ratios in validation genotyping were adjusted for age and sex