title: Single nucleotide polymorphisms in TNF-alpha, TNFR2 gene and TNF-alpha production in Asian Indians.
abstract: Polymorphisms in the TNF-alpha and TNF receptor type 2 (TNFR2) genes in Asian Indians are not well understood. We investigated single nucleotide polymorphisms in the TNF-alpha 5'-flanking promoter/enhancer region and in exons 6, 9 and 10 of TNFR2 gene by PCR-restriction length polymorphism (PCR-RFLP) and PCR-sequence specific primer (SSP) techniques, respectively. The results showed single bi-allelic polymorphism in TNF-alpha (-308G > A) and in TNFR2 exons 6 (676 T > G) and 9 (1176 G > A). Additionally, three bi-allelic polymorphisms (1663 G > A, 1668G > T and 1690C > T) were observed in the exon 10 of TNFR2 gene. The distribution of polymorphic alleles distinctly differed in Aryan and Dravidian Indian communities. The TNF-alpha and TNFR2 genotype and allele frequencies of Asian Indians stand closer to other Asian populations but distant from Caucasians. Furthermore, TNF-alpha -308 GA genotype was associated with significantly higher production of TNF-alpha as compared to GG genotype. These polymorphisms may be related to variation in TNF-alpha and TNFR2 expression during immune response to various stimuli in Asian Indians.
authors.affiliation: Tumor and Molecular Immunology Laboratory, Department of Biotechnology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
authors.forename: Reeshu
authors.initials: R
authors.lastname: Gupta
authors.forename: Vaibhav
authors.initials: V
authors.lastname: Kapuria
authors.forename: Satya N
authors.initials: SN
authors.lastname: Das
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D047889:Receptors, Tumor Necrosis Factor, Type II / Q000235:genetics*; D014409:Tumor Necrosis Factor-alpha / Q000096:biosynthesis / Q000235:genetics*; D055815:Young Adult
chemical_list: D047889:Receptors, Tumor Necrosis Factor, Type II; D014409:Tumor Necrosis Factor-alpha