title: Th1 cytokine polymorphisms in spanish patients with type 1 diabetes.
abstract: Several polymorphisms in regions where Th1 cytokines (IL12B and IFNG genes) are located were analyzed in 303 Spanish subjects with type 1 diabetes and compared with a control cohort (n = 548). Both groups comprised residents of the Madrid area. The haplotype frequencies were estimated by the expectation-maximization algorithm, and p values were corrected by the number of haplotypes taken into account in the study. Two haplotypes were significantly associated with the disease, one in the IL12B region (D5S2038*8/D5S1352*2/SNP1188C; OR = 3.01, p(c) = 0.0255) and another involved the IFNGgene (D12S313*9/IFNG*1; OR = 1.58, p(c) = 0.0217). Furthermore, a protective IL12B haplotype was found (D5S2038*4/D5S1352*1/SNP1188A; OR = 0.40, p(c) = 0.0405). No association was found for any of IL12B and IFNG markers individually.
authors.affiliation: Immunology Department, Hospital Universitario San Carlos, Madrid, Spain.
authors.forename: José L
authors.initials: JL
authors.lastname: Santiago
authors.forename: Alfonso
authors.initials: A
authors.lastname: Martínez
authors.forename: Hermenegildo
authors.initials: H
authors.lastname: de La Calle
authors.forename: Miguel
authors.initials: M
authors.lastname: Fernández-Arquero
authors.forename: Emilio G
authors.initials: EG
authors.lastname: de La Concha
authors.forename: Elena
authors.initials: E
authors.lastname: Urcelay
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D016207:Cytokines / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000097:blood / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D013030:Spain; D018417:Th1 Cells / Q000378:metabolism*
chemical_list: D016207:Cytokines