title: 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.
abstract: 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.
authors.affiliation: Department of Genetics & Pathology, Section for Medical Genetics, Rudbeck Laboratory, Uppsala University, S-751 85 Uppsala, Sweden.
authors.forename: C
authors.initials: C
authors.lastname: Johansson
authors.forename: C
authors.initials: C
authors.lastname: Castillejo-López
authors.forename: B
authors.initials: B
authors.lastname: Johanneson
authors.forename: E
authors.initials: E
authors.lastname: Svenungsson
authors.forename: I
authors.initials: I
authors.lastname: Gunnarsson
authors.forename: J
authors.initials: J
authors.lastname: Frostegård
authors.forename: G
authors.initials: G
authors.lastname: Sturfelt
authors.forename: L
authors.initials: L
authors.lastname: Truedsson
authors.forename: B
authors.initials: B
authors.lastname: Löfström
authors.forename: J
authors.initials: J
authors.lastname: Alcocer-Varela
authors.forename: I
authors.initials: I
authors.lastname: Lundberg
authors.forename: U B
authors.initials: UB
authors.lastname: Gyllensten
authors.forename: D
authors.initials: D
authors.lastname: Alarcón-Segovia
authors.forename: M E
authors.initials: ME
authors.lastname: Alarcón-Riquelme
mesh_terms: 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
chemical_list: D017931:DNA Primers; D016753:Interleukin-10