PMID- 15301861 OWN - NLM STAT- MEDLINE DCOM- 20050214 LR - 20111117 IS - 0198-8859 (Print) IS - 0198-8859 (Linking) VI - 65 IP - 7 DP - 2004 Jul TI - Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene. PG - 719-24 AB - Type 1 diabetes (T1D) is a complex autoimmune disease. Several genetic loci have been implicated in the susceptibility to this illness. Evaluated was the role of the CTLA4 exon 1 A49G polymorphism and its role as a risk factor for T1D in our population. DNA from 190 patients with T1D and their families and 96 control individuals were genotyped for CTLA4 exon 1 polymorphism and human leukocyte antigen (HLA)-DQB1*0201 and *0302 haplotypes by polymerase chain reaction (PCR) amplification-restriction enzyme analysis and PCR amplification that used sequence-specific primers, respectively. Patients were nonobese and <26 years old. The CTLA4 G allele was found to be more frequently present in patients with T1D (32.4%) as compared with its frequency in control individuals (24.5%). The GG genotype was also significantly higher among patients (12.6%) than in controls (4.2%). chi(2) analysis and family-based association studies were performed and suggested the association of CTLA4 exon 1 G polymorphism with T1D (p = 0.0229). Furthermore, in HLA-DQB1*0201-positive patients with T1D, the GG and AA genotypes were higher and lower, respectively, than those found in control individuals. This study suggests that CTLA4 is a candidate susceptibility gene for T1D. FAU - Zalloua, Pierre A AU - Zalloua PA AD - Program for Population Genetics, Harvard School of Public Health, Boston, MA, USA. FAU - Abchee, Antoine AU - Abchee A FAU - Shbaklo, Hadia AU - Shbaklo H FAU - Zreik, Tony G AU - Zreik TG FAU - Terwedow, Henry AU - Terwedow H FAU - Halaby, Georges AU - Halaby G FAU - Azar, Sami T AU - Azar ST LA - eng PT - Comparative Study PT - Journal Article PL - United States TA - Hum Immunol JT - Human immunology JID - 8010936 RN - 0 (Antigens, CD) RN - 0 (Antigens, Differentiation) RN - 0 (CTLA-4 Antigen) RN - 0 (CTLA4 protein, human) RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DQ beta-Chains) RN - 0 (HLA-DQB1 antigen) RN - 9007-49-2 (DNA) SB - IM MH - Adolescent MH - Adult MH - Age of Onset MH - Antigens, CD MH - Antigens, Differentiation/*genetics MH - CTLA-4 Antigen MH - Child MH - Child, Preschool MH - DNA/genetics/isolation & purification MH - Data Interpretation, Statistical MH - Diabetes Mellitus, Type 1/ethnology/*genetics MH - Exons/genetics MH - Female MH - Gene Frequency/genetics MH - Genetic Predisposition to Disease/genetics MH - Genotype MH - HLA-DQ Antigens/genetics MH - HLA-DQ beta-Chains MH - Heterozygote MH - Homozygote MH - Humans MH - Lebanon MH - Male MH - Polymerase Chain Reaction MH - Polymorphism, Single Nucleotide/*genetics EDAT- 2004/08/11 05:00 MHDA- 2005/02/16 09:00 CRDT- 2004/08/11 05:00 PHST- 2004/03/01 00:00 [received] PHST- 2004/04/22 00:00 [revised] PHST- 2004/04/26 00:00 [accepted] PHST- 2004/08/11 05:00 [pubmed] PHST- 2005/02/16 09:00 [medline] PHST- 2004/08/11 05:00 [entrez] AID - S0198885904001132 [pii] AID - 10.1016/j.humimm.2004.04.007 [doi] PST - ppublish SO - Hum Immunol. 2004 Jul;65(7):719-24. doi: 10.1016/j.humimm.2004.04.007.