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

						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	−++ − −

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

^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)