Linkage map of the human major histocompatibility complex including the tumor necrosis factor genes.

Carroll, Michael; Katzman, Philip J.; Alicot, Elisabeth M.; Koller, Beverly H.; Geraghty, Daniel E.; Orr, Harry T.; Strominger, Jack L.; Spies, Thomas A.

doi:10.1073/pnas.84.23.8535

Cited by 297 publications

(141 citation statements)

References 32 publications

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“…Tumor necrosis factor (TNF) gene is located on chromosome 6p21 within the major histocompatibility complex class III region (Carroll et al 1987), which has been linked to asthma by several genome-wide linkage studies (Daniels et al 1996;Wjst et al 1999;Yokouchi et al 2000;Nicolae et al 2005). TNF is a potent proinflammatory cytokine and is released during allergic responses by both macrophages and mast cells (Pennica et al 1984;Thomas et al 1996;Thomas 2001).…”

Section: Introductionmentioning

confidence: 99%

An association between asthma and TNF-308G/A polymorphism: meta-analysis

Aoki

Hirota²,

Tamari³

et al. 2006

J Hum Genet

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Tumor necrosis factor (TNF) is a potent inflammatory cytokine that contributes to airway inflammation in asthma. Previous studies have reported that a G-to-A transition at position -308 (-308G/A, also referred to as TNF-a-308*1 and 308*2 respectively), is associated with asthma, but other studies have shown conflicting results. To investigate a possible association between the TNF-308G/A polymorphism and asthma, we performed transmission disequilibrium tests and a case-control study (family samples: 495 members in 165 Japanese trio families with one asthmatic child and both parents; case-control samples: 461 Japanese asthmatic children and 465 healthy controls). To increase the sample size and power, we performed a meta-analysis of all available relevant studies, including 2,477 asthmatics and 3,217 controls. We did not find a significant association between the TNF-308G/A polymorphism and childhood atopic asthma in two independent Japanese populations (P>0.05); however, meta-analysis revealed that the TNF-308G/A polymorphism was statistically significantly associated with asthma. The combined odds ratio with a fixed effects model and with a random effects for TNF-308A was 1.46 (95% confidence interval [CI], 1.27-1.68, P=0.0000001) and 1.46 (95% CI, 1.20-1.77, P=0.00014) respectively. Our data further support the importance of the TNF region in the development of asthma.

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Section: Introductionmentioning

confidence: 99%

An association between asthma and TNF-308G/A polymorphism: meta-analysis

Aoki

Hirota²,

Tamari³

et al. 2006

J Hum Genet

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“…T h e genes for T N F a and TNFP are located within the HLA complex, 320 kb centromeric t o HLA-B and 340 kb telomeric to the C2/Bf complex, on the short arm of chromosome 6 (18). T h e T N F gene complex is polymorphic, and several biallelic polymorphisms have been identified (19).…”

mentioning

confidence: 99%

Association of tumor necrosis factor microsatellite polymorphisms with HLA‐DRB1*04–bearing haplotypes in rheumatoid arthritis patients

Hajeer

Worthington

Silman

et al. 1996

Arthritis & Rheumatism

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Objective. To investigate 1) tumor necrosis Factor (TNF) microsatellite allele frequencies in rheumatoid arthritis (RA), and 2) associations between TNF microsatellites and RA-associated HLA specificities in order to build up extended HLA haplotypes.Methods. Eighty-five Caucasoid patients with RA and 109 healthy Caucasoid controls were typed for TNF microsatellites a-d using fluorescent-labeled primers and semiautomated genotyping. A further 56 RA patients who were selected For having certain HLA-DRB1 types were also typed For these TNF microsatellites. Linkage disequilibria between TNF and HLA alleles were calculated, and extended haplotypes were established.Results. The TNFa6 allele Frequency was significantly increased in the RA patients compared with the controls (P = 0.0019, odds ratio [OR] 2.5, 95% confidence interval [95% CI] 1.3-4.6), an increase that was further evident in patients who were HLA-DRBl*0401 homozygous (P = 0.0003, OR 7.3,95% CI 2.2-24.4). This increase was found to be due to association with HLA-DRB1*0401. No TNF microsatellite allele was found to be associated with HLA-DRBl*O404. Three HLA extended haplotypes were identified in the RA group: 1)

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“…(Spies et al, 1986;Carroll et al, 1987;Ziegler et al, 1991). The primary transcript of human TNF-a consists of 2,762 bp which has four exons and three introns (Nedwin et al, 1985;Nedospasov et al, 1986).…”

Section: Introductionmentioning

confidence: 99%

NcoI restriction fragment length polymorphism at — 308 of the tumor necrosis factor alpha (TNFA) promoter region in korean

Park

Kim²,

Mok

1997

Jap J Human Genet

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SummaryTumor necrosis factor alpha (TNFA) is a cytokine, which is secreted from activated macrophage, with a broad range of biological activities. The gene encoding TNFA is located in tandem with the TNFB gene within the HLA complex on chromosome 6p21.3. We detected a single base polymorphism in the human TNFA gene promoter region in 300 unrelated Korean individuals. The TNFA promoter region which showed a G to A transition at position of -308 was investigated by NcoI restriction fragment length polymorphism analysis. A biallelic polymorphism of TNFA gene showed fragments of 87/20 bp and 107 bp acting as TNFA* 1 allele and TNFA*2 allele, respectively. The allele frequencies of TNFA* 1 and TNFA* 2 were 0.8783 and 0.1217, respectively. The 21.7% of heterozygosity was observed. No association between promoter region phenotypes of TNFA and the first intron phenotypes of TNFB was observed in Korean. Allele frequencies of Koreans were compared with that of Europeans.

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Linkage map of the human major histocompatibility complex including the tumor necrosis factor genes.

Cited by 297 publications

References 32 publications

An association between asthma and TNF-308G/A polymorphism: meta-analysis

An association between asthma and TNF-308G/A polymorphism: meta-analysis

Association of tumor necrosis factor microsatellite polymorphisms with HLA‐DRB1*04–bearing haplotypes in rheumatoid arthritis patients

NcoI restriction fragment length polymorphism at — 308 of the tumor necrosis factor alpha (TNFA) promoter region in korean

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