Περίληψη:
We obtained eight collections of DNA samples from ethnically matched
systemic lupus erythematosus (SLE) patients and controls from five
European countries totaling 783 patients and 1210 controls. A highly
significant cline in the frequency of the PD1.3 A allele was found among
controls but not among SLE patients. The frequency of the PD1.3 A allele
increased from the Northeast to the Southwest of Europe. The cline was
clearly apparent (P = 1.2 x 10(-6)) when data from controls of other
five SLE susceptibility studies were included in the analysis. This
variation has severely biased SLE association studies owing to the lack
of parallel changes in SLE patients. As a consequence, the PD1.3 A
allele was more common in SLE patients than in controls in the Northeast
and Center of Europe, similar to controls in Southeast Europe, and less
frequent than in the controls in the Southwest of the Continent. This
dissociation in allele frequencies between SLE patients and controls in
different subpopulations indicated that programmed cell death 1
variation and disease susceptibility are not independent but the type of
relationship is currently unclear. As allele frequency clines are common
in other polymorphisms their impact in genetic epidemiology studies
should be carefully considered.
Συγγραφείς:
Ferreiros-Vidal, I.
D'Alfonso, S.
Papasteriades, C. and
Skopouli, F. N.
Marchini, M.
Scorza, R.
Migliaresi, S. and
Sebastiani, G. D.
Endreffy, E.
Mavromati, M.
Kappou-Rigatou,
I.
Ruzickova, S.
Dostal, C.
Schmidt, R. E.
Witte, T. and
Gomez-Reino, J. J.
Gonzalez, A.
