• PMID: 26662429
• Gene Name: TNF
• Condition: Celiac disease
• Association: The study did not observe a statistically significant association between IL-6 (-174 G>C) polymorphism and CD (P > 0.05). Our results suggest that TNF-?(-308 G>A) polymorphism may play a role in susceptibility to CD in Italian patients.
• Population size: 288
• Population details: 288 ((96 DQ2-positive and 96 DQ8-positive), 96 controls)
• Age: Patients mean age: 17.08 ± 15.41 yrs, Controls mean age: 27.5 ± 12.45 yrs
• Sex: Male, Female
• Infertility type: Male infertility, Female infertility
• Associated genes: IL-6, TNF-?
• Other associated phenotypes: Celiac disease

Tumor necrosis factor-? and interleukin-6 gene polymorphism association with susceptibility to celiac disease in Italian patients

de Albuquerque Maranhão RM, Martins Esteves FA, Crovella S, Segat L, Eleutério Souza PR.

The aim of this research was to study polymorphisms in the genes encoding cytokines interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-α) in patients with celiac disease (CD) antigens DQ2 (DQ2-positive) or DQ8 (DQ8-positive). We compared the results with healthy controls to determine whether any of the polymorphisms have a role in susceptibility to CD. A case-control of 192 patients with CD (96 DQ2-positive and 96 DQ8-positive) and 96 healthy controls from northeast Italy were included in the study. Analysis of single nucleotide polymorphisms (SNPs) was carried out using the polymerase chain reaction-restriction fragment length polymorphism method. Significant differences for the TNF-α(-308 G>A) polymorphism were observed when we compared the flowing groups: DQ2-positive with controls [odds ratio (OR) = 0.45, P = 0.0002]; DQ8-positive with controls (OR = 3.55, P < 0.0001); and DQ2-positive with DQ8-positive (OR = 0.12, P < 0.0001). We did not observe a statistically significant association between IL-6 (-174 G>C) polymorphism and CD (P > 0.05). Our results suggest that TNF-α(-308 G>A) polymorphism may play a role in susceptibility to CD in Italian patients. FAU - de Albuquerque Maranhão, R M AU - de Albuquerque Maranhão RM AD - Instituto de Ciências Biológicas, Universidade de Pernambuco, Recife, PE, Brasil. FAU - Martins Esteves, F A AU - Martins Esteves FA AD - Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil. FAU - Crovella, S AU - Crovella S AD - Departamento de Genética, Universidade Federal de Pernambuco, Recife, PE, Brasil. FAU - Segat, L AU - Segat L AD - Istituto di Ricovero e Cura a Carattere Scientifico Materno Infantile Burlo Garofolo, Trieste, Italy.