title: Genome-wide analysis of runs of homozygosity identifies new susceptibility regions of lung cancer in Han Chinese.
abstract: Runs of homozygosity (ROHs) are a class of important but poorly studied genomic variations and may be involved in individual susceptibility to diseases. To better understand ROH and its relationship with lung cancer, we performed a genome-wide ROH analysis of a subset of a previous genome-wide case-control study (1,473 cases and 1,962 controls) in a Han Chinese population. ROHs were classified into two classes, based on lengths, intermediate and long ROHs, to evaluate their association with lung cancer risk using existing genome-wide single nucleotide polymorphism (SNP) data. We found that the overall level of intermediate ROHs was significantly associated with a decreased risk of lung cancer (odds ratio = 0.63; 95% confidence interval: 0.51-0.77; P = 4.78×10(-6) ), while the long ROHs seemed to be a risk factor of lung cancer. We also identified one ROH region at 14q23.1 that was consistently associated with lung cancer risk in the study. These results indicated that ROHs may be a new class of variation which may be associated with lung cancer risk, and genetic variants at 14q23.1 may be involved in the development of lung cancer.
authors.affiliation: Department of Epidemiology and Biostatistics and Ministry of Education (MOE) Key Lab for Modern Toxicology, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu 210029, China;
authors.forename: Cheng
authors.initials: C
authors.lastname: Wang
authors.forename: Zhengfeng
authors.initials: Z
authors.lastname: Xu
authors.forename: Guangfu
authors.initials: G
authors.lastname: Jin
authors.forename: Zhibin
authors.initials: Z
authors.lastname: Hu
authors.forename: Juncheng
authors.initials: J
authors.lastname: Dai
authors.forename: Hongxia
authors.initials: H
authors.lastname: Ma
authors.forename: Yue
authors.initials: Y
authors.lastname: Jiang
authors.forename: Lingmin
authors.initials: L
authors.lastname: Hu
authors.forename: Minjie
authors.initials: M
authors.lastname: Chu
authors.forename: Songyu
authors.initials: S
authors.lastname: Cao
authors.forename: Hongbing
authors.initials: H
authors.lastname: Shen
keywords: genome-wide association study; lung cancer; runs of homozygosity (ROHs)