Rheumatology, Vol 38, 645-651, Copyright © 1999 by British Society for Rheumatology
QR Huang, V Danis, M Lassere, J Edmonds and N Manolios
OBJECTIVE: We looked for an association between the MvaI polymorphism, a
recently reported polymorphism on the promoter of the Apo-1/Fas gene, and
rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) patients.
METHODS: Two cohorts of Caucasian RA patients (total number = 185) and one
cohort of SLE patients (n = 103) were studied. The MvaI polymorphism was
typed by polymerase chain reaction and followed by MvaI digestion and gel
electrophoresis. RESULTS: A skewed distribution of MvaI genotypes was found
in the first cohort of RA patients (n = 103) compared to the controls, as a
result of increased MvaI*2 and decreased MvaI*1 homozygosity. This skewed
distribution of genotypes was also observed in RA patients with either
early onset of disease or with systemic involvement or progressive disease
(assessed by the presence of erosions). The frequency of the MvaI*2 allele
was significantly increased in female patients (P = 0.035), patients with
extra-articular involvement (P = 0.04) and patients with early onset (P
< 0.01), compared to the normals. To confirm these findings, the MvaI
polymorphism was also examined in a second cohort of RA patients (n = 82).
The results in this cohort did not replicate the associations shown in the
first cohort of RA patients. Part of this inconsistency could be attributed
to different populations and different parameters collected and analysed.
In SLE patients, frequencies of MvaI alleles were not statistically
different to the controls. However, MvaI*2 homozygosity was significantly
higher in SLE patients with photosensitivity (P = 0.03) or oral ulcers (P =
0.01) than in SLE patients without these features. CONCLUSION: The role of
the Apo-1/Fas gene promoter MvaI polymorphism in RA and SLE is unclear and
further substantiation in larger patient samples is needed.
ORIGINAL PAPERS
Evaluation of a new Apo-1/Fas promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus patients
Department of Rheumatology, Westmead Hospital, NSW, Australia.
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