PMID- 16545788 OWN - NLM STAT- MEDLINE DCOM- 20060915 LR - 20131121 IS - 0009-8981 (Print) IS - 0009-8981 (Linking) VI - 370 IP - 1-2 DP - 2006 Aug TI - Correlation between a gene polymorphism of tumor necrosis factor-alpha (G/A) and end-stage renal disease: a pilot study from north India. PG - 152-7 AB - BACKGROUND: Patients with chronic kidney disease manifest an inflammatory state in comparison to healthy individuals. Tumor necrosis factor-alpha (TNF-alpha) is a potent pro-inflammatory cytokine involved in initiation and progression of renal injury. We examined the 2-promoter region polymorphism of TNF-alpha gene G to A at -308 and at +488 sites in end-stage renal disease (ESRD) subjects. METHODS: The TNF-alpha -308 G/A and +488 G/A polymorphisms were genotyped in 231 patients aged 36.5+/-10, and in 180 matched controls (34.96+/-11.3) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and amplification refractory mutation system (ARMS-PCR) method, respectively. RESULTS: The genotypic distribution of TNF-alpha -308 and +488 were significantly different between patients and controls (P<0.001 and P<0.006), respectively. The AA genotype was more frequent in ESRD patients than controls for both the sites (42% vs. 2.8% and 17.3% vs. 2.2%), respectively. The allelic frequency of TNF-alpha A was also higher in cases than in controls for both the sites (P<0.001; OR=2.96; 95% CI=2.228-3.945 and P<0.013; OR=1.422; 95% CI=1.078-1.876). Significant difference was observed for haplotype frequency distribution between ESRD patients and controls and 'A-G#' haplotype showed >9-fold higher risk (OR=9.886, 95% CI=4.408-22.172). The two polymorphisms were in linkage disequilibrium in the control group (D'=0.8047, P<0.001). CONCLUSION: Both the variants of TNF-alpha (-308 and +488) polymorphism had significant association and may thus be a strong predisposing risk factor for ESRD in a cohort of north Indian population. Further, individuals with haplotypes A-G# may be at higher risk for ESRD. FAU - Manchanda, Parmeet Kaur AU - Manchanda PK AD - Sanjay Gandhi Post Graduate Institute of Medical Sciences Lucknow, Uttar Pradesh, India. FAU - Kumar, Anant AU - Kumar A FAU - Kaul, Anupma AU - Kaul A FAU - Mittal, Rama Devi AU - Mittal RD LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20060228 PL - Netherlands TA - Clin Chim Acta JT - Clinica chimica acta; international journal of clinical chemistry JID - 1302422 RN - 0 (TNF protein, human) RN - 0 (Tumor Necrosis Factor-alpha) RN - 12133JR80S (Guanosine) RN - K72T3FS567 (Adenosine) SB - IM MH - Adenosine/*genetics MH - Adolescent MH - Adult MH - Aged MH - Aged, 80 and over MH - Alleles MH - Diabetes Mellitus/genetics MH - Female MH - Genotype MH - Glomerulonephritis/genetics MH - Guanosine/*genetics MH - Humans MH - India MH - Kidney Failure, Chronic/*genetics MH - Male MH - Middle Aged MH - Nephrosis/etiology/genetics MH - Pilot Projects MH - Polymorphism, Genetic/*genetics MH - Tumor Necrosis Factor-alpha/*genetics EDAT- 2006/03/21 09:00 MHDA- 2006/09/16 09:00 CRDT- 2006/03/21 09:00 PHST- 2005/12/16 00:00 [received] PHST- 2006/02/04 00:00 [revised] PHST- 2006/02/06 00:00 [accepted] PHST- 2006/03/21 09:00 [pubmed] PHST- 2006/09/16 09:00 [medline] PHST- 2006/03/21 09:00 [entrez] AID - S0009-8981(06)00111-2 [pii] AID - 10.1016/j.cca.2006.02.002 [doi] PST - ppublish SO - Clin Chim Acta. 2006 Aug;370(1-2):152-7. doi: 10.1016/j.cca.2006.02.002. Epub 2006 Feb 28.