A different asociation with TNFa polymorphism in celiac disease and refractory sprue?.

PERIOLO NATALIA ; CORREA PAULA; GUILLÉN LAURA; NIVELONI SONIA ; MAURIÑO EDUARDO ; BAI JULIO; ANAYA JUAN M; CHERÑAVSKY ALEJANDRA

Cordoba-Argentina

Congreso; VII Congreso Latinoamericano de Inmunología; 2005

Sociedad Argentina de Imunología

Celiac disease (CD) is a genetically-determined enteropathy caused by intolerance to gluten. Refractory sprue (RS) is a rare and severe celiac-like enteropathy not responding to a strict gluten-free diet. Susceptibility to CD and RS is strongly influenced by HLA- 2Q genes which compose a common proinflammatory ancestral haplotype associated with upregulation of tumour necrosis factor (TNF) production. Objective: To determine G /A -238 and G /A -308 polymorphisms in TNF α promoter in CD and RS. Methods: Genomic DNA from Latin American Caucasian patients with CD (n=87), a cohort series of consecutive patients diagnosed with RS (n=22) and controls (n=106) were genotyped by PCR-RFLP. Results: we describe an increase in -308 AA genotype (p =0.007) and -308A allelic frequencies (p=0.0384) for CD patients. In contrast, the ? 238GG genotype and the -238G allelic frequency for RS patients were significantly increased compared with controls (p=0.0002 and p=0.005) and CD patients (p=0.0001 and p=0.0014). Conclusion: as in other reported series, we describe an association between the-308A allele and CD. Furthermore, we suggest that -238G allele is associated with the highly severe RS, and -238A act as a protective factor in CD.