Epidemiological studies of esophageal cancer in the era of genome-wide association studies

Table 2 Genomic variants identified to be associated with esophageal squamous cell carcinoma

Loci associated with ESCC	Method/design	Case sample size	Control sample size	Ref.
PLCE1 (10q23 rs227422) and C20orf54 (20p13)	GWAS	1077	1733	Wang et al[22]
ALDH2 (4q21-23, rs671) and ADH1B (12q24, rs1229984)	GWAS	1070	2836	Cui et al[23]
PLCE1 (10q23 rs2274223)	GWAS	2115	3302	Abnet et al[24]
ALDH2 (4q23, rs671) and ADH1B (12q24.11–13, rs1229984)	GWAS	1071	2762	Tanaka et al[25]
5q11 (rs10052657) 21q22 (rs2014300), 6p21 (rs10484761), 10q23 (rs2274223), and 12q24 (rs2074356, rs11066280) CYP1A1 A2455G polymorphism(Ile/Val, rs1048943)	GWAS	2031 1881	2044 3786	Wu et al[26] Shen et al[27]
	Meta-analysis
	(13 case-control studies)
CYP1A1/CYP2E1 (MTHFR) C677T and A1298C polymorphisms with ESCC	Case-control study	565 /482 3213	468/466 4354	Wang et al[28] Fang et al[29]
	Meta-analysis
	(15 case-control studies)
rs1014867 polymorphisms in FAT4 gene	Case-control study	2139	2273	Du et al[30]
Interleukin 1B rs16944	Case-control study	380	380	Zheng et al[31]
CHRNA5-A3-B4 rs667282 TT/TG	Case-control study	866	952	Wang et al[32]
rs1494961, rs1229984 and rs1789924, and rs671	Case-control study	2139	2273	Gao et al[33]
Genetic variants in DNA repair pathway genes/(EGFR) signaling pathway	Case-control study	1942	2111	Li et al[34], Li et al[35]
Sex hormone metabolic genes	Case-control study	1026	1452	Hyland et al[36]
Chromosome 1 open reading frame 10 (C1orf10)	Case-control study	991	984	Zhang et al[37]

ESCC: Esophageal squamous cell carcinoma; GWAS: Genome wide association studies; PLCE1: Phospholipase C epsilon 1; C20orf54: Chromosome 20 open reading frame 54; ADH1B: Alcohol dehydrogenase; ALDH2: Acetaldehyde dehydrogenase.