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Chinese Journal of Medical Genetics ; (6): 57-61, 2009.
Artículo en Chino | WPRIM | ID: wpr-287454

RESUMEN

<p><b>OBJECTIVE</b>To investigate the association of single nucleotide polymorphisms (SNPs) of the peptidylarginine deiminase IV (PADI4) and HLA-DRB1 shared epitope (SE) alleles with rheumatoid arthritis(RA) in a Chinese population.</p><p><b>METHODS</b>Four exonic SNPs of the PADI4 gene (PADI 4_89*A/G, PADI 4_90*C/T, PADI 4_92*C/G and PADI 4_104*C/T) were genotyped in 67 unrelated patients with RA and 81 healthy controls, using cDNA sequencing and T vector cloning. HLA-DRB 1*01, *04 and *10 subtypes were determined by polymerase chain reaction with sequence specific primers (PCR-SSP).</p><p><b>RESULTS</b>The distributions of the 4 SNPs were different in the two groups, and increased RA susceptibility was significantly associated with the minor alleles of PADI 4_89*G (P was 0.023), PADI 4_90*T (P was 0.004), PADI 4_104*T (P was 0.003), and the haplotypes carrying the 4 minor alleles (P was 0.008). HLA-DRB1 SE alleles are composed of HLA-DRB 1*0101, *0102, *0401, *0404, *0405, *0408, *0409, *0410 and *1001. Individuals carrying the SE alleles were associated with increased RA susceptibility (P was 0.002). Individuals carrying both the SE alleles and minor alleles of the 4 SNPs were more susceptible to RA than individuals carrying neither the minor SNP alleles nor the SE alleles.</p><p><b>CONCLUSION</b>The PADI4 SNPs and haplotypes are associated with RA susceptibility in Chinese. HLA-DRB1 shared epitope is also an important risky factor for RA. There may exist certain synergistic effect between the PADI4 minor alleles and the HLA-DRB1 shared epitope.</p>


Asunto(s)
Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Alelos , Artritis Reumatoide , Genética , Pueblo Asiatico , Genética , Estudios de Casos y Controles , Epítopos , Genética , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Antígenos HLA-DR , Genética , Cadenas HLA-DRB1 , Hidrolasas , Genética , Fenotipo , Polimorfismo de Nucleótido Simple , Desiminasas de la Arginina Proteica
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