title: GWAS-uncovered SNPs in PLCE1 and RFT2 genes are not implicated in Dutch esophageal adenocarcinoma and squamous cell carcinoma etiology.
abstract: Susceptibility to esophageal carcinoma (EC) is influenced by the interaction between genetic and environmental factors. To clarify the etiology of EC, several genome-wide association studies have identified single nucleotide polymorphisms (SNPs) in PCLE1 and RFT2 genes as esophageal squamous cell carcinoma (ESCC) susceptibility loci in Asian populations. This study aimed to determine whether these SNPs also modify the risk of esophageal adenocarcinoma (EAC) and ESCC in western populations of Caucasian ethnicity. A European case-control study including 349 EC patients and 580 controls matched for age, sex, geographical location, and race was carried out. The SNPs rs2274223 in the PCLE1 gene at chromosome 10q23 and rs13042395 in the RFT2 gene at chromosome 20p13 were determined using PCR. Genotype distributions were compared between patients and controls, and odds ratios with 95% confidence intervals were calculated. The total EC group included 86 patients with ESCC and 258 patients with EAC. The distribution of PLCE1 and RFT2 genotypes did not differ between patients with EAC or ESSC, and the controls. In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that the PLCE1 rs2274223 and RFT2 13042395 SNPs play a role in EAC or ESCC susceptibility in Dutch Caucasians.
authors.affiliation: Department of Gastroenterology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands. p.dura@mdl.umcn.nl
authors.forename: Polat
authors.initials: P
authors.lastname: Dura
authors.forename: Caro V V
authors.initials: CV
authors.lastname: Bregitha
authors.forename: Rene H M
authors.initials: RH
authors.lastname: te Morsche
authors.forename: Hennie M J
authors.initials: HM
authors.lastname: Roelofs
authors.forename: Jon O
authors.initials: JO
authors.lastname: Kristinsson
authors.forename: Theo
authors.initials: T
authors.lastname: Wobbes
authors.forename: Ben J M
authors.initials: BJ
authors.lastname: Witteman
authors.forename: Adriaan C I T L
authors.initials: AC
authors.lastname: Tan
authors.forename: Joost P H
authors.initials: JP
authors.lastname: Drenth
authors.forename: Wilbert H M
authors.initials: WH
authors.lastname: Peters
mesh_terms: D000230:Adenocarcinoma / Q000453:epidemiology / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D004938:Esophageal Neoplasms / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009426:Netherlands / Q000453:epidemiology; D054801:Phosphoinositide Phospholipase C / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D012307:Risk Factors; D044465:White People / Q000706:statistics & numerical data
chemical_list: D026901:Membrane Transport Proteins; C548553:SLC52A3 protein, human; D054801:Phosphoinositide Phospholipase C; C423320:phospholipase C epsilon