title: Mucin 5B promoter polymorphism is associated with susceptibility to interstitial lung diseases in Chinese males.
abstract: The variation of G>T in the MUC5B promoter (rs35705950) has been associated with idiopathic pulmonary fibrosis (IPF) and familial interstitial pneumonia (FIP) in Caucasians, but no information is available regarding this variant in the Chinese population. We recruited 405 patients with interstitial lung diseases (ILD), including 165 IPF patients and 2043 healthy controls, for genotyping the MUC5B gene in the Chinese population. One hundred three patients with pneumonia and 360 patients with autoimmune diseases (ADs) were recruited as disease controls. Our results indicated that the prevalence of the minor allele (T) of the polymorphism rs35705950 in healthy Chinese subjects was approximately 0.66%, which was lower than that described in the Caucasian population. The frequencies of the T allele were 3.33% and 2.22% in IPF and ILD patients, respectively, and these values were significantly higher than those of healthy controls (P = 0.001, OR = 4.332 for IPF, and P = 0.002, OR = 2.855 for ILD). A stratified analysis showed that this variant in MUC5B associated with the risk for ILD mainly in older male Chinese subjects. No difference was observed between patients with pneumonia, AD patients, and healthy controls.
authors.affiliation: Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China; Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of Medicine, Nanjing, China.
authors.forename: Chunli
authors.initials: C
authors.lastname: Wang
authors.affiliation: Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China; Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of Medicine, Nanjing, China; Department of Respirology, Medical School affiliated Drum Tower Hospital, Nanjing University, Nanjing, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhuang
authors.affiliation: Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China; Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of Medicine, Nanjing, China.
authors.forename: Wenwen
authors.initials: W
authors.lastname: Guo
authors.affiliation: Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China; Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of Medicine, Nanjing, China.
authors.forename: Lili
authors.initials: L
authors.lastname: Cao
authors.affiliation: Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China; Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of Medicine, Nanjing, China.
authors.forename: Huan
authors.initials: H
authors.lastname: Zhang
authors.affiliation: Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China; Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of Medicine, Nanjing, China.
authors.forename: Lizhi
authors.initials: L
authors.lastname: Xu
authors.affiliation: Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China; Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of Medicine, Nanjing, China.
authors.forename: Yimei
authors.initials: Y
authors.lastname: Fan
authors.affiliation: Department of Respirology, Medical School affiliated Drum Tower Hospital, Nanjing University, Nanjing, China.
authors.forename: Deping
authors.initials: D
authors.lastname: Zhang
authors.affiliation: Department of Medical Genetics, Nanjing University School of Medicine, Nanjing, China; Jiangsu Key Laboratory of Molecular Medicine, Nanjing University School of Medicine, Nanjing, China.
authors.forename: Yaping
authors.initials: Y
authors.lastname: Wang
mesh_terms: D016022:Case-Control Studies; D002681:China; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D017563:Lung Diseases, Interstitial / Q000235:genetics*; D008297:Male; D055257:Mucin-5B / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic
chemical_list: C524578:MUC5B protein, human; D055257:Mucin-5B