Genetic variation in C20orf54, PLCE1 and MUC1 and the risk of upper gastrointestinal cancers in Caucasian populations

Andrew J Palmer, Paul Lochhead, Georgina L Hold, Charles S Rabkin, Wong-Ho Chow, Jolanta Lissowska, Thoma L Vaughan, Susan Berry, Marilie D. Gammon, Harvey A. Risch, Emad M El-Omar

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Abstract

Recently, two large genome-wide association studies, conducted in Chinese populations, have reported associations between upper gastrointestinal cancer and the rs2274223, rs13042395 and rs4072037 polymorphisms in PLCE1, C20orf54 and MUC1, respectively. We aimed to determine whether similar associations existed for Caucasian populations. We genotyped two population-based, case-control studies of upper gastrointestinal cancer; the first study included 290 gastric cancer (GC) cases and 376 controls and the second study included 306 GC cases, 107 oesophageal adenocarcinoma cancer cases, 52 oesphageal squamous cell cancer cases and 211 controls. Odds ratios (OR) and 95% confidence intervals (CIs) were computed from logistic models and adjusted for confounding variables. The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histological type (OR 0.4; 95% CI 0.2-0.9) and a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.2-1.0), but not oesphageal adenocarcinoma. Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.3-1.0), but not oesphageal adenocarcinoma. We observed no association between rs13042395 in Corf54 and the risk of gastric or oesphageal cancer in either of the two studies. Our findings for rs4072037 and the risk of GC are in agreement with one previous report for a Caucasian population. To the best of our knowledge, this is the first study to report an association between rs2274223 and rs4072037 and the risk of oesophageal squamous cell carcinoma in a Caucasian population.
Original languageEnglish
Pages (from-to)541-544
Number of pages4
JournalEuropean Journal of Cancer Prevention
Volume21
Issue number6
DOIs
Publication statusPublished - Nov 2012

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Gastrointestinal Neoplasms
Squamous Cell Neoplasms
Stomach Neoplasms
Esophageal Neoplasms
Odds Ratio
Confidence Intervals
Population
Adenocarcinoma
Confounding Factors (Epidemiology)
Genome-Wide Association Study
Case-Control Studies
Stomach
Logistic Models
Neoplasms

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Genetic variation in C20orf54, PLCE1 and MUC1 and the risk of upper gastrointestinal cancers in Caucasian populations. / Palmer, Andrew J; Lochhead, Paul; Hold, Georgina L; Rabkin, Charles S; Chow, Wong-Ho; Lissowska, Jolanta; Vaughan, Thoma L; Berry, Susan; Gammon, Marilie D.; Risch, Harvey A.; El-Omar, Emad M.

In: European Journal of Cancer Prevention, Vol. 21, No. 6, 11.2012, p. 541-544.

Research output: Contribution to journalArticle

Palmer, AJ, Lochhead, P, Hold, GL, Rabkin, CS, Chow, W-H, Lissowska, J, Vaughan, TL, Berry, S, Gammon, MD, Risch, HA & El-Omar, EM 2012, 'Genetic variation in C20orf54, PLCE1 and MUC1 and the risk of upper gastrointestinal cancers in Caucasian populations', European Journal of Cancer Prevention, vol. 21, no. 6, pp. 541-544. https://doi.org/10.1097/CEJ.0b013e3283529b79
Palmer, Andrew J ; Lochhead, Paul ; Hold, Georgina L ; Rabkin, Charles S ; Chow, Wong-Ho ; Lissowska, Jolanta ; Vaughan, Thoma L ; Berry, Susan ; Gammon, Marilie D. ; Risch, Harvey A. ; El-Omar, Emad M. / Genetic variation in C20orf54, PLCE1 and MUC1 and the risk of upper gastrointestinal cancers in Caucasian populations. In: European Journal of Cancer Prevention. 2012 ; Vol. 21, No. 6. pp. 541-544.
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T1 - Genetic variation in C20orf54, PLCE1 and MUC1 and the risk of upper gastrointestinal cancers in Caucasian populations

AU - Palmer, Andrew J

AU - Lochhead, Paul

AU - Hold, Georgina L

AU - Rabkin, Charles S

AU - Chow, Wong-Ho

AU - Lissowska, Jolanta

AU - Vaughan, Thoma L

AU - Berry, Susan

AU - Gammon, Marilie D.

AU - Risch, Harvey A.

AU - El-Omar, Emad M

N1 - PMID: 22805490 [PubMed - indexed for MEDLINE] PMCID: PMC3460062 Free PMC Article

PY - 2012/11

Y1 - 2012/11

N2 - Recently, two large genome-wide association studies, conducted in Chinese populations, have reported associations between upper gastrointestinal cancer and the rs2274223, rs13042395 and rs4072037 polymorphisms in PLCE1, C20orf54 and MUC1, respectively. We aimed to determine whether similar associations existed for Caucasian populations. We genotyped two population-based, case-control studies of upper gastrointestinal cancer; the first study included 290 gastric cancer (GC) cases and 376 controls and the second study included 306 GC cases, 107 oesophageal adenocarcinoma cancer cases, 52 oesphageal squamous cell cancer cases and 211 controls. Odds ratios (OR) and 95% confidence intervals (CIs) were computed from logistic models and adjusted for confounding variables. The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histological type (OR 0.4; 95% CI 0.2-0.9) and a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.2-1.0), but not oesphageal adenocarcinoma. Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.3-1.0), but not oesphageal adenocarcinoma. We observed no association between rs13042395 in Corf54 and the risk of gastric or oesphageal cancer in either of the two studies. Our findings for rs4072037 and the risk of GC are in agreement with one previous report for a Caucasian population. To the best of our knowledge, this is the first study to report an association between rs2274223 and rs4072037 and the risk of oesophageal squamous cell carcinoma in a Caucasian population.

AB - Recently, two large genome-wide association studies, conducted in Chinese populations, have reported associations between upper gastrointestinal cancer and the rs2274223, rs13042395 and rs4072037 polymorphisms in PLCE1, C20orf54 and MUC1, respectively. We aimed to determine whether similar associations existed for Caucasian populations. We genotyped two population-based, case-control studies of upper gastrointestinal cancer; the first study included 290 gastric cancer (GC) cases and 376 controls and the second study included 306 GC cases, 107 oesophageal adenocarcinoma cancer cases, 52 oesphageal squamous cell cancer cases and 211 controls. Odds ratios (OR) and 95% confidence intervals (CIs) were computed from logistic models and adjusted for confounding variables. The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histological type (OR 0.4; 95% CI 0.2-0.9) and a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.2-1.0), but not oesphageal adenocarcinoma. Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.3-1.0), but not oesphageal adenocarcinoma. We observed no association between rs13042395 in Corf54 and the risk of gastric or oesphageal cancer in either of the two studies. Our findings for rs4072037 and the risk of GC are in agreement with one previous report for a Caucasian population. To the best of our knowledge, this is the first study to report an association between rs2274223 and rs4072037 and the risk of oesophageal squamous cell carcinoma in a Caucasian population.

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DO - 10.1097/CEJ.0b013e3283529b79

M3 - Article

VL - 21

SP - 541

EP - 544

JO - European Journal of Cancer Prevention

JF - European Journal of Cancer Prevention

SN - 0959-8278

IS - 6

ER -