학술논문

Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.
Document Type
article
Source
Nature genetics. 41(9)
Subject
Chromosomes
Human
Pair 9
Humans
Pancreatic Neoplasms
Genetic Predisposition to Disease
ABO Blood-Group System
Logistic Models
Odds Ratio
Risk Factors
Case-Control Studies
Cohort Studies
Prospective Studies
Gene Frequency
Genotype
Haplotypes
Linkage Disequilibrium
Polymorphism
Single Nucleotide
Alleles
Introns
United States
Female
Male
Genetic Variation
Genome-Wide Association Study
Prevention
Rare Diseases
Cancer
Genetics
Clinical Research
Pancreatic Cancer
Digestive Diseases
Human Genome
2.1 Biological and endogenous factors
Aetiology
Biological Sciences
Medical and Health Sciences
Developmental Biology
Language
Abstract
We conducted a two-stage genome-wide association study of pancreatic cancer, a cancer with one of the lowest survival rates worldwide. We genotyped 558,542 SNPs in 1,896 individuals with pancreatic cancer and 1,939 controls drawn from 12 prospective cohorts plus one hospital-based case-control study. We conducted a combined analysis of these groups plus an additional 2,457 affected individuals and 2,654 controls from eight case-control studies, adjusting for study, sex, ancestry and five principal components. We identified an association between a locus on 9q34 and pancreatic cancer marked by the SNP rs505922 (combined P = 5.37 x 10(-8); multiplicative per-allele odds ratio 1.20; 95% confidence interval 1.12-1.28). This SNP maps to the first intron of the ABO blood group gene. Our results are consistent with earlier epidemiologic evidence suggesting that people with blood group O may have a lower risk of pancreatic cancer than those with groups A or B.