Skip to main content

Table 3 Results of the overlapping SNPs identified in both genome-wide association studies on FEV1/FVC < 70% and FEV1/FVC < LLN in never- and ever-smokers

From: Limited overlap in significant hits between genome-wide association studies on two airflow obstruction definitions in the same population

 

Discovery analysis

SNP validation meta-analysis

Direction of effect in the independent cohortsa

SNP

Chr

A1

MAF

Gene

Test

OR

SE

P

OR

SE

P

I2

Never-smokers

 

(n = 5070)

(n = 1966)

 rs7519348

1

A

33%

NFYC (intronic)

<70%

1.36

0.07

4.92 × 10−6

1.21

0.11

0.07

0.0

++++ 0

<LLN

1.37

0.07

2.27 × 10−5

1.40

0.16

0.03

0.0

+++++

 rs6913003

6

T

4%

FABP7 (intronic)

< 70%

1.90

0.13

8.99 × 10−7

1.48

0.22

0.08

0.0

+++++

<LLN

1.83

0.14

1.83 × 10−5

1.72

0.31

0.08

0.0

+++++

Ever-smokers

 

(n = 4855)

(n = 3134)

 rs13118083

4

A

45%

HHIP (342 kb 5′)

<70%

1.23

0.05

4.36 × 10−5

0.97

0.07

0.60

17.0

+ 0 − − +

<LLN

1.26

0.05

2.27 × 10−5

1.05

0.08

0.57

46.7

++ 0 − +

 rs7074210

10

G

18%

ST8SIA6 (62 kb 5′)

<70%

1.35

0.06

3.08 × 10−6

1.05

0.08

0.57

64.7

+ − +++

<LLN

1.33

0.07

3.23 × 10−5

0.99

0.10

0.95

64.5

+ − + − +

 rs4930390

11

G

24%

C11orf80 (intronic)

<70%

0.76

0.06

9.40 × 10−6

1.02

0.07

0.74

0.0

− + 0 – 0

<LLN

0.73

0.07

6.68 × 10−6

1.01

0.09

0.91

10.1

−++ − −

  1. SNPs were selected based on having a p-value < 10−4 in both the discovery analyses on the fixed ratio of 70% and LLN. The logistic regression model of FEV1/FVC < 70% was adjusted for sex, age and height, the LLN model was not adjusted. Ever-smoking models were additionally adjusted for pack-years and current-smoking. Discovery sample = LifeLines cohort study, and SNP validation sample = Vlagtwedde-Vlaardingen and RS I to III. A1 = minor allele (effect allele), MAF = minor allele frequency, OR = Odds Ratio, SE = standard error and P = p-value, I2 = heterogeneity measure
  2. a Order: LifeLines, Vlagtwedde-Vlaardingen, and Rotterdam Study I to III. + represents an OR > 1, − represents an OR < 1, and 0 represents is an OR between 0.95 and 1.05 (no effect)