title: Polymorphism of 3'UTR region of TNFR2 coding gene and its role in clinical tuberculosis in Han Chinese pediatric population.
abstract: Genetic factors of human susceptibility to tuberculosis (TB) are multiple and their effect may be ethnic- and age-dependent. TNFR2 encoded by the TNFRSF1B gene is one of the important TNF-α receptors; its polymorphisms were previously suggested as potential markers of host susceptibility to TB. Here, genotyping of three SNPs in TNFRSF1B 3'UTR (rs1061624, rs5030792, rs3397) was performed in Han Chinese pediatric population (229 TB patients and 233 control subjects). rs5030792 was found homozygous (TT genotype) in all studied individuals. The rs3397-T allele was almost equally represented in both gender groups in this study; in particular, it was detected in 33.9% and 35.2% in female cases and controls, respectively (P=0.8). This latter result differs strikingly from an African study where rs3397-T was found in only 12.8 and 16.2% of Ghanaian female cases and controls, respectively (P=0.007 [Möller et al., 2010. Am. J. Respir. Crit. Care. Med. 181, 388-393]). In contrast, rs1061624-A allele, acting recessively, was found to be a possible risk factor for clinical TB in females (P=0.03). The rs1061624 heterozygotes were overdominant in controls versus patients (P=0.015) that warrants further study of their hypothetical advantage in TB. Neither of the common haplotypes was associated with susceptibility to TB. Compared to the published contrasting data on African (7-15%) and European (57%) populations, GTT haplotype was found in an intermediate frequency (26%). Further studies on both adult and pediatric populations in ethnically diverse settings are needed to elucidate the functionality of these 3'UTR SNPs of the TNFR2 gene.
authors.affiliation: Key Laboratory of Major Diseases in Children and National Key Discipline of Pediatrics (Capital Medical University), Beijing Pediatric Research Institute, Beijing Children's Hospital affiliated to Capital Medical University, Beijing 100045, China. imokrousov@mail.ru
authors.forename: Igor
authors.initials: I
authors.lastname: Mokrousov
authors.forename: Xi-Rong
authors.initials: XR
authors.lastname: Wu
authors.forename: Anna
authors.initials: A
authors.lastname: Vyazovaya
authors.forename: Wei-Xing
authors.initials: WX
authors.lastname: Feng
authors.forename: Lin
authors.initials: L
authors.lastname: Sun
authors.forename: Jing
authors.initials: J
authors.lastname: Xiao
authors.forename: Qing
authors.initials: Q
authors.lastname: Miao
authors.forename: Wei-Wei
authors.initials: WW
authors.lastname: Jiao
authors.forename: Adong
authors.initials: A
authors.lastname: Shen
mesh_terms: D020413:3' Untranslated Regions; D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020641:Polymorphism, Single Nucleotide; D047889:Receptors, Tumor Necrosis Factor, Type II / Q000235:genetics*; D014397:Tuberculosis, Pulmonary / Q000175:diagnosis / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D047889:Receptors, Tumor Necrosis Factor, Type II; C415902:TNFRSF1B protein, human