Association analysis with microsatellite and SNP markers does not support the involvement of BCL-2 in systemic lupus erythematosus in Mexican and Swedish patients and their families.
We have described suggestive linkage between microsatellite markers within the cytogenetic region 18q21-23 and SLE, a region where linkage with other autoimmune diseases has also been detected. The Bcl-2 gene located within this region, is a candidate gene because of its role in apoptosis, a physiological mechanism that could be deregulated in autoimmune disease. Furthermore, several studies have found abnormalities of Bcl-2 expression in SLE patients. We therefore sought to determine if the Bcl-2 gene is involved in SLE by studying members of a large cohort of Mexican SLE patients (n = 378) and 112 Swedish simplex families. Using a microsatellite marker and two single nucleotide polymorphisms located within the gene, we were unable to detect association between Bcl-2 and SLE in either population. We also tested whether combinations of alleles of the Bcl-2 and IL-10.G microsatellites would increase the risk for SLE. Our results do not support such hypothesis. Our findings suggest that linkage between SLE and the 18q21-23 region is due to a gene other than Bcl-2.
Johansson
C
C
Department of Genetics & Pathology, Section for Medical Genetics, Rudbeck Laboratory, Uppsala University, S-751 85 Uppsala, Sweden.
Castillejo-López
C
C
Johanneson
B
B
Svenungsson
E
E
Gunnarsson
I
I
Frostegård
J
J
Sturfelt
G
G
Truedsson
L
L
Löfström
B
B
Alcocer-Varela
J
J
Lundberg
I
I
Gyllensten
U B
UB
Alarcón-Segovia
D
D
Alarcón-Riquelme
M E
ME
D000483:Alleles; D001483:Base Sequence; D016022:Case-Control Studies; D015331:Cohort Studies; D017931:DNA Primers / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D019254:Genes, bcl-2; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D008297:Male; D008800:Mexico; D018895:Microsatellite Repeats; D020641:Polymorphism, Single Nucleotide; D013548:Sweden
D017931:DNA Primers; D016753:Interleukin-10