title: Tumor necrosis factor (TNF)-α -308G/A (rs1800629) polymorphism distribution in North India and its association with pemphigus: Case-control study and meta-analysis.
abstract: Pemphigus is an autoimmune blistering disorder of skin and/or mucosal surfaces characterized by intraepithelial lesions and immunoglobulin-G autoantibodies against desmogleins (proteins critical in cell-to-cell adhesion). Genetic, immunological, hormonal, and environmental factors are known to contribute to its etiology. Tumor necrosis factor-alpha (TNF-α) which plays a key role in pathogenesis of many infectious and inflammatory diseases has been found in high levels in lesional skin and sera of pemphigus patients. However, studies on association of single nucleotide polymorphism (SNP) in promoter region of TNF-α at position -308 affecting G to A transition with pemphigus has been scarce. This study was conducted to evaluate the TNF-α -308G/A SNP distribution in North Indian cohort, and to define the association between the TNF-α -308G/A SNP distribution and pemphigus, globally, by means of meta-analysis. TNF-α -308G/A SNP in pemphigus patients was investigated by cytokine genotyping using genomic DNA by PCR with sequence-specific primers. Meta-analysis of the data, including four previously published studies from other populations, was performed to generate a meaningful relationship. The results of our case-control study indicate non-significant differences between patients and controls in TNF-α -308G/A SNP. The meta-analysis also revealed that TNF-α -308G/A SNP is not associated with pemphigus risk in population at large; however, it may be contributing towards autoimmune phenomenon in pemphigus by being a part of its multi-factorial etiology. This study provides evidence that the TNF-α -308G/A polymorphism is not associated with overall pemphigus susceptibility. Nevertheless, further studies on specific ethnicity and pemphigus variants are necessary to validate the findings.
authors.affiliation: a Department of Microbiology , University College of Medical Sciences (University of Delhi) & GTB Hospital , Delhi , India .|b Research and Scientific Studies Unit, College of Nursing and Allied Health Sciences, University of Jazan , Jazan , Kingdom of Saudi Arabia .
authors.forename: Sajad Ahmad
authors.initials: SA
authors.lastname: Dar
authors.affiliation: c Department of Laboratory Medicine, Faculty of Applied Medical Sciences , Albaha University , Albaha , Kingdom of Saudi Arabia .
authors.forename: Naseem
authors.initials: N
authors.lastname: Akhter
authors.affiliation: b Research and Scientific Studies Unit, College of Nursing and Allied Health Sciences, University of Jazan , Jazan , Kingdom of Saudi Arabia .|d Centre for Drug Research, Faculty of Pharmacy, University of Helsinki , Helsinki , Finland .
authors.forename: Shafiul
authors.initials: S
authors.lastname: Haque
authors.affiliation: a Department of Microbiology , University College of Medical Sciences (University of Delhi) & GTB Hospital , Delhi , India .
authors.forename: Taru
authors.initials: T
authors.lastname: Singh
authors.affiliation: b Research and Scientific Studies Unit, College of Nursing and Allied Health Sciences, University of Jazan , Jazan , Kingdom of Saudi Arabia .
authors.forename: Raju Kumar
authors.initials: RK
authors.lastname: Mandal
authors.affiliation: a Department of Microbiology , University College of Medical Sciences (University of Delhi) & GTB Hospital , Delhi , India .
authors.forename: Vishnampettai Ganapathysubramanian
authors.initials: VG
authors.lastname: Ramachandran
authors.affiliation: e Department of Dermatology , and.
authors.forename: Sambit Nath
authors.initials: SN
authors.lastname: Bhattacharya
authors.affiliation: f Department of Biochemistry , University College of Medical Sciences (University of Delhi) & GTB Hospital , Delhi , India.
authors.forename: Basu Dev
authors.initials: BD
authors.lastname: Banerjee
authors.affiliation: a Department of Microbiology , University College of Medical Sciences (University of Delhi) & GTB Hospital , Delhi , India .
authors.forename: Shukla
authors.initials: S
authors.lastname: Das
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007194:India; D008297:Male; D016017:Odds Ratio; D010392:Pemphigus / Q000175:diagnosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017594:Publication Bias; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D014409:Tumor Necrosis Factor-alpha
keywords: Autoimmune skin disease; cytokines; pathogenesis; single-nucleotide polymorphism; susceptibility