Qr. Huang et al., Evaluation of a new Apo-1/Fas promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus patients, RHEUMATOLOG, 38(7), 1999, pp. 645-651
Objective. We looked for an association between the MvaI polymorphism a rec
ently reported polymorphism on the promoter of the Apo-1/Fas gene, and rheu
matoid 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 ty
ped by polymerase chain reaction and followed by MvaI digestion and gel ele
ctrophoresis.
Results. A skewed distribution of MvaI genotypes was found in the first coh
ort of RA patients (n = 103) compared to the controls, as a result of incre
ased MvaI*2 and decreased MvaI*1 homozygosity. This skewed distribution of
genotypes was also observed in RA patients with either early onset of disea
se or with systemic involvement or progressive disease (assessed by the pre
sence of erosions). The frequency of the MvaI*2 allele was significantly in
creased in female patients (P = 0.035), patients with extra-articular invol
vement (P = 0.04) and patients with early onset (P < 0.01), compared to the
normals. To confirm these findings, the MvaI polymorphism was also examine
d in a second cohort of RA patients (n = 82). The results in this cohort di
d 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 photosens
itivity (P = 0.03) or oral ulcers (P = 0.01) than in SLE patients without t
hese 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.