PMID- 26761187 OWN - NLM STAT- MEDLINE DCOM- 20161230 LR - 20221207 IS - 1607-842X (Electronic) IS - 0891-6934 (Linking) VI - 49 IP - 3 DP - 2016 TI - Tumor necrosis factor (TNF)-alpha -308G/A (rs1800629) polymorphism distribution in North India and its association with pemphigus: Case-control study and meta-analysis. PG - 179-87 LID - 10.3109/08916934.2015.1134512 [doi] AB - 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-alpha) 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-alpha at position -308 affecting G to A transition with pemphigus has been scarce. This study was conducted to evaluate the TNF-alpha -308G/A SNP distribution in North Indian cohort, and to define the association between the TNF-alpha -308G/A SNP distribution and pemphigus, globally, by means of meta-analysis. TNF-alpha -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-alpha -308G/A SNP. The meta-analysis also revealed that TNF-alpha -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-alpha -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. FAU - Dar, Sajad Ahmad AU - Dar SA AD - a Department of Microbiology , University College of Medical Sciences (University of Delhi) & GTB Hospital , Delhi , India . AD - b Research and Scientific Studies Unit, College of Nursing and Allied Health Sciences, University of Jazan , Jazan , Kingdom of Saudi Arabia . FAU - Akhter, Naseem AU - Akhter N AD - c Department of Laboratory Medicine, Faculty of Applied Medical Sciences , Albaha University , Albaha , Kingdom of Saudi Arabia . FAU - Haque, Shafiul AU - Haque S AD - b Research and Scientific Studies Unit, College of Nursing and Allied Health Sciences, University of Jazan , Jazan , Kingdom of Saudi Arabia . AD - d Centre for Drug Research, Faculty of Pharmacy, University of Helsinki , Helsinki , Finland . FAU - Singh, Taru AU - Singh T AD - a Department of Microbiology , University College of Medical Sciences (University of Delhi) & GTB Hospital , Delhi , India . FAU - Mandal, Raju Kumar AU - Mandal RK AD - b Research and Scientific Studies Unit, College of Nursing and Allied Health Sciences, University of Jazan , Jazan , Kingdom of Saudi Arabia . FAU - Ramachandran, Vishnampettai Ganapathysubramanian AU - Ramachandran VG AD - a Department of Microbiology , University College of Medical Sciences (University of Delhi) & GTB Hospital , Delhi , India . FAU - Bhattacharya, Sambit Nath AU - Bhattacharya SN AD - e Department of Dermatology , and. FAU - Banerjee, Basu Dev AU - Banerjee BD AD - f Department of Biochemistry , University College of Medical Sciences (University of Delhi) & GTB Hospital , Delhi , India. FAU - Das, Shukla AU - Das S AD - a Department of Microbiology , University College of Medical Sciences (University of Delhi) & GTB Hospital , Delhi , India . LA - eng PT - Journal Article PT - Meta-Analysis DEP - 20160113 PL - England TA - Autoimmunity JT - Autoimmunity JID - 8900070 RN - 0 (Tumor Necrosis Factor-alpha) SB - IM MH - *Alleles MH - Case-Control Studies MH - Female MH - *Genetic Association Studies MH - *Genetic Predisposition to Disease MH - Genotype MH - Humans MH - India MH - Male MH - Odds Ratio MH - Pemphigus/diagnosis/*genetics MH - *Polymorphism, Single Nucleotide MH - Publication Bias MH - Tumor Necrosis Factor-alpha/*genetics MH - White People/*genetics OTO - NOTNLM OT - Autoimmune skin disease OT - cytokines OT - pathogenesis OT - single-nucleotide polymorphism OT - susceptibility EDAT- 2016/01/14 06:00 MHDA- 2016/12/31 06:00 CRDT- 2016/01/14 06:00 PHST- 2016/01/14 06:00 [entrez] PHST- 2016/01/14 06:00 [pubmed] PHST- 2016/12/31 06:00 [medline] AID - 10.3109/08916934.2015.1134512 [doi] PST - ppublish SO - Autoimmunity. 2016;49(3):179-87. doi: 10.3109/08916934.2015.1134512. Epub 2016 Jan 13.