PMID- 9459504 OWN - NLM STAT- MEDLINE DCOM- 19980313 LR - 20190826 IS - 0001-2815 (Print) IS - 0001-2815 (Linking) VI - 51 IP - 1 DP - 1998 Jan TI - CTLA4 codon 17 dimorphism in patients with rheumatoid arthritis. PG - 62-6 AB - The genetic susceptibility to rheumatoid arthritis is conferred by genes in the human leukocyte antigen (HLA) region on chromosome 6, but additional genes may be involved to determine disease susceptibility. We have studied the distribution of the CTLA4 exon 1 polymorphism (49 A/G) in rheumatoid arthritis. This dimorphism at codon 17 results in an amino acid exchange (Thr/Ala) in the leader peptide of the expressed protein and was analyzed by PCR, SSCP and RFLP in 258 Caucasian rheumatoid arthritis patients and 456 controls. Rheumatoid arthritis patients were characterized by a decreased frequency of homozygotes for the Thr-17 substitution (32% versus 39%) and an overrepresentation of patients heterozygous for the Thr/Ala substitution (54% versus 46%). Gene frequencies for the Ala/Thr substitution differed only marginally from controls. In contrast, analyses of the CTLA4 exon 1 polymorphism with respect to HLA-DRB1*04 revealed significantly more patients with Ala in the homozygous (19% versus 15% controls) or heterozygous state (54% versus 39% controls) and less homozygous for Thr (27% versus 46% controls), with a particular increase of Ala/Ala genotypes among rheumatoid arthritis patients carrying the HLA-DRB1*0401 subtype. Among HLA-DRB1*04 negative rheumatoid arthritis patients, we observed no difference between the allele frequencies of the Ala-17 or Thr-17 substitution. FAU - Seidl, C AU - Seidl C AD - Institute of Transfusion Medicine and Immunohematology, Red Cross Blood Donor Service, Hessen, Germany. FAU - Donner, H AU - Donner H FAU - Fischer, B AU - Fischer B FAU - Usadel, K H AU - Usadel KH FAU - Seifried, E AU - Seifried E FAU - Kaltwasser, J P AU - Kaltwasser JP FAU - Badenhoop, K AU - Badenhoop K LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (Antigens, CD) RN - 0 (Antigens, Differentiation) RN - 0 (CTLA-4 Antigen) RN - 0 (CTLA4 protein, human) RN - 0 (Codon) RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DRB1 Chains) RN - 0 (HLA-DRB1*04:01 antigen) RN - 0 (Immunoconjugates) RN - 2ZD004190S (Threonine) RN - 7D0YB67S97 (Abatacept) RN - OF5P57N2ZX (Alanine) SB - IM MH - Abatacept MH - Adult MH - Aged MH - Alanine/genetics MH - Antigens, CD MH - Antigens, Differentiation/*genetics MH - Arthritis, Rheumatoid/*genetics/immunology MH - CTLA-4 Antigen MH - *Codon MH - HLA-DR Antigens/genetics MH - HLA-DRB1 Chains MH - Humans MH - *Immunoconjugates MH - Middle Aged MH - Polymerase Chain Reaction MH - *Polymorphism, Genetic MH - Polymorphism, Single-Stranded Conformational MH - Threonine/genetics EDAT- 1998/02/12 00:00 MHDA- 1998/02/12 00:01 CRDT- 1998/02/12 00:00 PHST- 1998/02/12 00:00 [pubmed] PHST- 1998/02/12 00:01 [medline] PHST- 1998/02/12 00:00 [entrez] AID - 10.1111/j.1399-0039.1998.tb02947.x [doi] PST - ppublish SO - Tissue Antigens. 1998 Jan;51(1):62-6. doi: 10.1111/j.1399-0039.1998.tb02947.x.