Table 2 Genetic variants with significant associations with lung cancer risk under a dominant or recessive genetic model.

From: Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies

Genes	Variants	Alleles*	MAF (%)	Number evaluated		Genetic associations with lung cancer			Heterogeneity		Begg P	Venice criteria grades^†	Credibility of evidence^‡
Genes	Variants	Alleles*	MAF (%)	Studies	Cases/Controls	Genetic models	OR(95%CI)	p value	I² (%)	P_Q ^ǁ	Begg P	Venice criteria grades^†	Credibility of evidence^‡
ATM	rs664677	C/T	58.90	3	1627/1641	Dominant	0.76(0.64–0.92)	0.004	0	0.448	1.000	AAA	Strong
REV3L	rs465646	C/T	18.18	3	1296/1511	Dominant	0.78(0.67–0.92)	0.003	0	0.437	1.000	BAB	Moderate
CASC8	rs6983267	G/T	44.77	3	1539/1989	Recessive	1.22(1.04–1.44)	0.013	0	0.644	0.296	BAA	Moderate
CHRNA5	rs142774214	ins/-	37.67	3	1431/1606	Recessive	0.80(0.65–0.98)	0.032	0	0.597	1.000	BAA	Moderate
CYP2A6	non4/4	del/-	13.48	7	2623/2380	Recessive	0.51(0.35–0.73)	2.93 × 10⁻⁴	0	0.539	1.000	BAA	Moderate
IL17A	rs2275913	A/G	24.90	3	889/998	Recessive	1.76(1.21–2.55)	0.003	18	0.295	0.296	BAB	Moderate
XPA	rs1800975	A/G	36.74	12	4221/5240	Recessive	1.22(1.05–1.42)	0.011	33	0.124	0.681	ABA	Moderate
Chr8q24	rs16901979	A/C	19.48	3	1534/1992	Dominant	1.18(1.02–1.37)	0.025	0	0.610	1.000	AAC	Weak
CYP1B1	rs10012	G/C	25.98	3	622/666	Dominant	1.69(1.05–2.72)	0.031	74	0.021	1.000	BCC	Weak
EGF	rs4444903	G/A	59.28	3	666/690	Dominant	2.07(1.01–4.24)	0.048	79	0.009	0.296	ACC	Weak
MLH1	rs1800734	A/G	48.86	5	2178/2320	Dominant	0.80(0.68–0.95)	0.009	24	0.260	0.462	AAC	Weak
PTGS2	rs689466	G/A	38.07	4	1676/2180	Dominant	0.78(0.62–0.97)	0.026	56	0.076	0.734	ACA	Weak
FASLG	rs763110	T/C	34.01	5	4436/4120	Recessive	0.83(0.70–0.99)	0.038	30	0.221	0.462	ABC	Weak
IL1B	rs1143627	C/T	38.81	8	4201/5431	Recessive	0.80(0.68–0.95)	0.010	49	0.059	0.019	ABC	Weak
LIG1	rs156641	A/G	31.71	3	1112/2048	Recessive	1.45(1.14–1.83)	0.002	0	0.370	1.000	BAC	Weak
XRCC1	rs25487	A/G	29.70	48	16999/20567	Recessive	1.16(1.03–1.30)	0.018	54	0.000	0.729	ACC	Weak
XRCC3	rs1799794	G/A	41.09	4	1389/1941	Recessive	0.82(0.67–0.99)	0.038	0	0.469	1.000	BAC	Weak

MAF = minor allele frequency in controls. OR = odds ratio; 95% CI = 95% confidence interval. chr = chromosome. ins = insertion. del = deletion. bp = base pair. *Minor alleles/major alleles (per Caucasian); major alleles were treated as reference alleles in the analyses; Dominant model, summary OR was estimated for subjects who carry one or two minor alleles. Recessive model, summary OR was estimated for subjects have homozygous of the minor alleles. ^ǁP value of the test for between-study heterogeneity. ^†Venice criteria grades are for amount of evidence, replication of the association, and protection from bias; one rare variant was not scored for amount of evidence (×). ^‡Credibility of evidence is categorized as “strong”, “moderate”, or “weak” for association with lung cancer risk.

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Table 2 Genetic variants with significant associations with lung cancer risk under a dominant or recessive genetic model.

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