RGD Reference Report - Polymorphisms in the TNFA promoter region is not associated with palmoplantar pustulosis. - Rat Genome Database

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Polymorphisms in the TNFA promoter region is not associated with palmoplantar pustulosis.

Authors: Niizeki, H  Naruse, T  Hashigucci, K  Yokoyama, M  Yamasaki, Y  Akiya, K  Tojo, T  Urushibara, T  Yamazaki, Y  Inoko, H  Nishikawa, T 
Citation: Niizeki H, etal., Tissue Antigens. 2000 Aug;56(2):162-5.
RGD ID: 8548803
Pubmed: PMID:11019918   (View Abstract at PubMed)

Polymorphisms of the 5'-flanking promoter/enhancer region of the TNAFA gene were determined in 80 Japanese patients with pulmoplantar pustulosis (PPP). The 5'-flanking region of the TNFA gene from -1107 to 66 was amplified by polymerase chain reaction (PCR) method. Nucleotide sequencing data from the PCR products revealed that 5 single nucleotide polymorphisms at position 1031, -863, -857, -307 and -237. None of the nucleotide substitutions were significantly increased in PPP patients when compared with those in controls. To clarify the linkage among the neighboring genetic marker, we analyzed the association between the polymorphisms in the TNFA promoter region and the NcoI polymorphism in the first intron of the TNFB gene as well as HLA-DR9. The genotype at 1031C is strongly associated with TNFB1 and negatively associated with TNFB2 which is reported to be associated with PPP. These data indicate that TNFA gene centromeric to TNFB is not associated with PPP and the susceptible gene of PPP is located between TNFB and HLA-B.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
pustulosis of palm and sole no_associationIAGP 8548803DNA:SNPs:promoter:multipleRGD 
pustulosis of palm and sole no_associationISOTNF (Homo sapiens)8548803; 8548803DNA:SNPs:promoter:multipleRGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Palmoplantar pustulosis no_associationIAGP 8548803DNA:SNPs:promoter:multipleRGD 
Objects Annotated

Genes (Rattus norvegicus)
Tnf  (tumor necrosis factor)

Genes (Mus musculus)
Tnf  (tumor necrosis factor)

Genes (Homo sapiens)
TNF  (tumor necrosis factor)


Additional Information