%0 Journal Article
%T TNF gene polymorphisms in cystic fibrosis patients: contribution to the disease progression
%A Shmarina Galina
%A Pukhalsky Alexander
%A Petrova Nika
%A Zakharova Ekaterina
%J Journal of Translational Medicine
%D 2013
%I BioMed Central
%R 10.1186/1479-5876-11-19
%X Background It is well known that the disease progression in cystic fibrosis (CF) patients may be diverse in subjects with identical mutation in CFTR gene. It is quite possible that such heterogeneity is associated with TNF-汐 and/or LT-汐 gene polymorphisms since their products play a key role in inflammation. The aim of the study was to investigate the possible roles of TNF gene polymorphisms in CF disease phenotype and progression. Methods 198 CF patients and 130 control subjects were genotyped for both TNF-汐每308GA and LT-汐 + 252AG polymorphisms. Results The carriers of the TNF-汐每308A allele more frequently had asthma as compared to patients homozygous for the TNF-汐每308 G allele. In 9 of 108 (8.3%) of LT汐 + 252AA carriers, tuberculosis infection has been documented, whereas there was no case of tuberculosis among patients, either homozygous or heterozygous for LT汐 +252 G alleles (p = 0.01). We never observed virus hepatitis among LT汐 + 252GA carriers. The genotypes TNF-汐每308GG 每 LT-汐 + 252AA and TNF-汐每308GA 每 LT-汐 + 252AG were unfavorable with regard to liver disease development (both p < 0.05). It was also shown that neutrophil elastase activity was higher in sputum specimens from high TNF producers with genotypes TNF-汐每308GA or LT-汐 + 252GG. In addition the carriers of such genotypes demonstrated a higher risk of osteoporosis development (p values were 0.011 and 0.017, respectively). Conclusions The carriers of genotypes, which are associated with higher TNF-汐 production, demonstrated increased frequency of asthma, higher levels of neutrophil elastase, and decrease of bone density. On the contrary, the carriers of genotypes associated with low TNF-汐 production showed a higher frequency of tuberculosis infection.
%K TNF
%K Gene polymorphism
%K Cystic fibrosis
%K Inflammation
%K Liver disease
%K Osteoporosis
%K Tuberculosis
%K Asthma
%U http://www.translational-medicine.com/content/11/1/19