Polimorfismo do HLA-G em pacientes com doenças inflamatórias intestinais

• Ano de defesa: 2009
• Autor(a) principal: Schneider, Nutianne C.
• Orientador(a): Machado, Denise Cantarelli
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Pontifícia Universidade Católica do Rio Grande do Sul; Porto Alegre
• Palavras-chave em Português: MEDICINA; POLIMORFISMO GENÉTICO HUMANO; DOENÇA DE CROHN; IMUNOGENÉTICA; ENTEROPATIAS INFLAMATÓRIAS; PROCTOCOLITE
• Link de acesso: http://hdl.handle.net/10923/4351

Rational: The inflammatory bowel disease (IBD) represented by ulcerative retocolitis and Crohn’s disease is characterized for being an immunological systemic illness that presents the main clinical manifestations in gastrointestinal tract. This multifatorial disease is influenced by genetic factors that may predispose the development of the different symptoms of IBD. Some genes related to immune system already had been indicated as potentials in the development of the IBD. The HLA-G molecule is the of them. Although to present specific tecidual distribution and limited polymorphism compared with classic molecules of HLA, it’s expression can distinguishing in the chronic inflammatory processes, come to favor to the Th2 type Objective: To analyze the polymorphism insertion/deletion of 14 bp in éxon 8 of the region 3' UTR of the gene of the HLA-G with the purpose to verify if exists association between the IBD variants. Material and methods: 96 carrying patients of the IBD clinic in HSL-PUCRS had been evaluated. DNA genomic of these individuals was extracted, analyzing itself it region 3' referring UTR to the polymorphism insertion/deletion of 14pb in éxon 8 of the HLA-G.Delineation: Transversal. Results: The 96 patients with IBD had been subdivided in two groups, those with DC (n= 56) and those with RCU (n=40). It was become fullfilled analysis of the genotypic frequency in three groups: the homozygous for deletion (- 14bp/- 14bp) called Hd, the homozygous for insertion (+ 14bp/+ 14bp) called Hi and the heterozygous (- 14bp/+ 14bp) called Ht. The standard distribution of the genotype of the three sub-groups (Hd, Ht, Hi) when compared between the patients with DC, with RCU and controls was different (p = 0,013). The frequency of Hi genotype, was significantly lesser in the patients with DC (1. 8%) when compared with the group of patients with RCU (20. 0%) and to the group it has controlled (15. 2%) (p = 0,014). In the isolated comparison of the groups for situation DC vs RCU, OR = 13,8 (IC95%: 1,6 the 306,6; P < 0,01) and in situation DC vs Control OR = 9,87 (IC95%: 1,44 the 195,11; P < 0,01). The Hd frequency, was bigger in the patients with DC (50. 0%) when compared with the group of patients with RCU (30. 0%) and to the group it has controlled (36. 0%) (p = 0,08). Conclusion: We can suggest that the occurrence of the genotype of the insertion (+14bp) of the HLA-G that directs the standard of immune response for a Th2 type is lesser in the patients with DC, that present a standard of immune response Th1 type. Therefore, the genotype +14pb/+14pb of HLA-G seems to be contributing in the process of inflammation IBD. However the increase of the patients number for confirmation of this finding is essential.