title: Polymorphism in PHD1 gene and risk of non-small cell lung cancer in a Chinese population.
abstract: Hypoxia is a common phenomenon in the development of solid tumors, and hypoxia inducible factor 1 (HIF-1) plays a central role in coordinating the cellular response to hypoxia and in oxygen homeostasis. The prolyl hydrolase 1 (PHD1) is a key adjustment factor that mediates the HIF-1 degradation and relates with the process of tumorigenesis. Thus, polymorphism in PHD1 may affect cellular response to hypoxic conditions and associate with cancer susceptibility. We conducted a case-control study with 406 non-small cell lung cancer cases and 812 healthy controls matched on age and sex to examine the effect of rs10680577 polymorphism within the PHD1 promoter on non-small cell lung cancer (NSCLC) risk in a Chinese population. The genotype of rs10680577 polymorphism was detected by non-denaturing polyacrylamide gel electrophoresis. The ins/del genotype of rs10680577 was associated with significantly increased non-small cell lung cancer risk (ins/del vs. ins/ins: OR = 1.35, 95 % confidence interval (CI) 1.05-1.74, P = 0.020; ins/del vs. ins/ins + del/del: OR = 1.34, 95 % CI = 1.04-1.72, P = 0.022). In addition, the association was more pronounced in the group of >60 years of age. rs10680577 polymorphism is associated with the risk of non-small cell lung cancer in a Chinese population. This is the first time to show that PHD1 rs10680577 is associated NSCLC risk.
authors.affiliation: Department of Biochemical and Molecular Biology, Medical College, Soochow University, Ren'ai Road, No. 199, 215123, Suzhou, Jiangsu, China.
authors.forename: Jianhua
authors.initials: J
authors.lastname: Che
authors.forename: Dong
authors.initials: D
authors.lastname: Jiang
authors.forename: Yabiao
authors.initials: Y
authors.lastname: Zheng
authors.forename: Bin
authors.initials: B
authors.lastname: Zhu
authors.forename: Ping
authors.initials: P
authors.lastname: Zhang
authors.forename: Deyi
authors.initials: D
authors.lastname: Lu
authors.forename: Junjie
authors.initials: J
authors.lastname: Zhang
authors.forename: Juanjuan
authors.initials: J
authors.lastname: Xiao
authors.forename: Jianguo
authors.initials: J
authors.lastname: Wang
authors.forename: Yuzhen
authors.initials: Y
authors.lastname: Gao
authors.forename: Xiaolong
authors.initials: X
authors.lastname: Yan
authors.forename: Minghua
authors.initials: M
authors.lastname: Wang
mesh_terms: D000367:Age Factors; D000368:Aged; D044466:Asian People / Q000235:genetics; D002289:Carcinoma, Non-Small-Cell Lung / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases / Q000235:genetics*; D054643:INDEL Mutation; D015810:Linkage Disequilibrium; D016015:Logistic Models; D008175:Lung Neoplasms / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012907:Smoking
chemical_list: C447780:EGLN2 protein, human; D064799:Hypoxia-Inducible Factor-Proline Dioxygenases