RGD Reference Report - Oxygen free radical scavenger enzyme polymorphisms in systemic sclerosis. - Rat Genome Database

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Oxygen free radical scavenger enzyme polymorphisms in systemic sclerosis.

Authors: Tikly, Mohammed  Marshall, Sara E  Haldar, Neil A  Gulumian, Mary  Wordsworth, Paul  Welsh, Ken I 
Citation: Tikly M, etal., Free Radic Biol Med. 2004 Jun 1;36(11):1403-7.
RGD ID: 12798510
Pubmed: PMID:15135176   (View Abstract at PubMed)
DOI: DOI:10.1016/j.freeradbiomed.2004.02.079   (Journal Full-text)

We performed a case-control study of polymorphisms of glutathione S-transferase (GST) isoenzymes and manganese superoxide dismutase (MnSOD) in black South Africans with systemic sclerosis (SSc). The frequency of the GSTM1*B phenotype was significantly decreased in the overall SSc group compared with controls (OR=0.19, p(corr)<.05), implying a possible protective effect against development of the disease. There was also a trend toward increased MnSODAla allele and phenotype frequencies in the diffuse cutaneous SSc subset compared with controls (OR=2.11 and 3.15, respectively, p(corr)<.1). Our findings provide new data on the distribution of GST and MnSOD polymorphisms in healthy Africans and further evidence that genetic factors may have a contributory role to play in predisposing to oxidative stress in SSc.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
systemic scleroderma susceptibilityIAGP 12798510DNA:missense mutation:cds:p.K173N (human)RGD 
systemic scleroderma susceptibilityISOGSTM1 (Homo sapiens)12798510; 12798510DNA:missense mutation:cds:p.K173N (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal fingertip morphology susceptibilityIAGP 12798510DNA:missense mutation:cds:p.K173NRGD 
Bilateral basilar pulmonary fibrosis susceptibilityIAGP 12798510DNA:missense mutation:cds:p.K173NRGD 
Proximal scleroderma susceptibilityIAGP 12798510DNA:missense mutation:cds:p.K173NRGD 
Pulmonary fibrosis susceptibilityIAGP 12798510DNA:missense mutation:cds:p.K173NRGD 
Sclerodactyly susceptibilityIAGP 12798510DNA:missense mutation:cds:p.K173NRGD 
Scleroderma susceptibilityIAGP 12798510DNA:missense mutation:cds:p.K173NRGD 
Objects Annotated

Genes (Rattus norvegicus)
Gstm1  (glutathione S-transferase mu 1)

Genes (Mus musculus)
Gstm1  (glutathione S-transferase, mu 1)

Genes (Homo sapiens)
GSTM1  (glutathione S-transferase mu 1)


Additional Information