title: MUC5AC upstream complex repetitive region length polymorphisms are associated with susceptibility and clinical stage of gastric cancer.
abstract: MUC5AC was deemed to be involved in gastric carcinogenesis since aberrant MUC5AC expression has been repeatedly detected in patients with gastric cancer (GC). In this study, length polymorphisms in a complicated repetitive region adjacent to MUC5AC promoter were assessed in 230 patients with GC and 328 cancer-free controls. Alleles of 1.4 and 1.8 kb were significantly more prevalent in GC group than in controls. In contrast, 2.3 and 2.8 kb alleles occurred at significantly lower frequencies in patients than in controls. Alleles were then classified into susceptible (S; 1.4 and 1.8 kb), protective (P; 2.3 and 2.8 kb) and null (N; all other alleles) categories with respect to their linkage with the susceptibility to GC. Individuals with genotype SS had a 2.7-fold increased risk of GC occurrence, but PN genotype was associated with a significantly reduced risk of this cancer. Moreover, homozygous or heterozygous individuals with one or two copies of 1.4 kb allele showed an earlier age of onset and more advanced metastasis stage compared with patients without this allele (Bonferroni corrected p = 1.35×10(-4) and 6.60×10(-4) accordingly), whereas homozygous patients with two copies of 1.8 kb allele were linked to less advanced GC TNM stage. Our results suggest that certain genetic variations in MUC5AC upstream repetitive region are associated with the susceptibility and progression of GC.
authors.affiliation: Department of Emergency Center, Shandong Provincial Hospital affiliated to Shandong University, Jinan, Shandong, China.
authors.forename: Chenghua
authors.initials: C
authors.lastname: Wang
authors.affiliation: Department of General Surgery, Shandong Provincial Hospital affiliated to Shandong University, Jinan, Shandong, China.
authors.forename: Jinshen
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Laboratory Medicine, Shandong Provincial Hospital affiliated to Shandong University, Jinan, Shandong, China.
authors.forename: Yiqing
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America.
authors.forename: Xueliang
authors.initials: X
authors.lastname: Guo
authors.affiliation: Department of Gastroenterology, Shandong Provincial Hospital affiliated to Shandong University, Jinan, Shandong, China.
authors.forename: Chunqing
authors.initials: C
authors.lastname: Zhang
mesh_terms: D001483:Base Sequence; D016022:Case-Control Studies; D017931:DNA Primers; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D055271:Mucin 5AC / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology*
chemical_list: D017931:DNA Primers; C524678:MUC5AC protein, human; D055271:Mucin 5AC