title: Variants in TNFRSF5 locus and association analysis with Hepatitis B virus (HBV) infection.
abstract: Human TNFRSF5, a key signaling molecule expressed by antigen-presenting cells of the immune system, might have associations with autoimmune diseases and various infectious diseases. In the present study, we screened single-nucleotide polymorphisms (SNPs) in TNFRSF5 and examined whether they are risk factors for persistent HBV infection or disease severity. We resequenced all 9 exons, the promoter and splicing regions of all introns for 186 Chinese individuals, and identified 11 SNPs. Haplotypes and their frequencies were estimated. The linkage disequilibrium (LD) pattern was also evaluated. Neutrality tests indicated that the variation pattern at TNFRSF5 locus departs from neutrality and may be maintained by positive selection or demography factors such as population growth. Three SNPs (g.53031T>C, g.54068T>C and g.64493A>G) were determined as haplotype-tag SNPs (htSNPs). Furthermore, computer analyses indicated that sequences surrounding g.53031T>C and g.53824T>C were potential binding sites for transcription factors Sp1 and H4TF-2, respectively. We then genotyped these four SNPs for 603 persistent HBV infection patients and 384 spontaneously recovered subjects by PCR direct sequencing. No statistically significant associations were observed between any of the SNPs or haplotypes and persistent HBV infection or disease severity. The information from this study of the TNFRSF5 would be useful for genetic studies of other common diseases.
authors.affiliation: Department of Genomics & Proteomics, Beijing Institute of Radiation Medicine, Beijing, China.
authors.forename: Gangqiao
authors.initials: G
authors.lastname: Zhou
authors.forename: Yun
authors.initials: Y
authors.lastname: Zhai
authors.forename: Xiaojia
authors.initials: X
authors.lastname: Dong
authors.forename: Ya
authors.initials: Y
authors.lastname: Li
authors.forename: Xiumei
authors.initials: X
authors.lastname: Zhang
authors.forename: Ruifang
authors.initials: R
authors.lastname: Zhang
authors.forename: Shuqing
authors.initials: S
authors.lastname: Li
authors.forename: Xuhong
authors.initials: X
authors.lastname: Li
authors.forename: Fengying
authors.initials: F
authors.lastname: He
authors.forename: Handong
authors.initials: H
authors.lastname: Wei
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Chen
authors.forename: Zhijian
authors.initials: Z
authors.lastname: Yao
authors.forename: Yan
authors.initials: Y
authors.lastname: Shen
authors.forename: Boqing
authors.initials: B
authors.lastname: Qiang
authors.forename: Fuchu
authors.initials: F
authors.lastname: He
mesh_terms: D000328:Adult; D005260:Female; D005787:Gene Frequency; D006239:Haplotypes; D006509:Hepatitis B / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D018124:Receptors, Tumor Necrosis Factor