title: Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients.
abstract: Sarcoidosis is a complex disease with autoimmune basis and still unknown etiology. We have screened for mutations in the cystic fibrosis conductance regulator (CFTR) gene and genotyped single-nucleotide polymorphisms in the tumor necrosis factor (TNF), interferon alpha-10 (IFNA10), IFNA17, and interferon gamma (IFNG) genes in 89 Greek patients with sarcoidosis and 212 control subjects to detect possible association between them and the risk for developing sarcoidosis. We have found a statistically significant increase (p = 6.1 x 10(-8)) of CFTR mutation carriers in the population of patients with sarcoidosis versus the control population. A difference was also noted within the group of patients with sarcoidosis where the ones with CFTR mutations suffered more frequently from dyspnea than those without (p = 5 x 10(-6)). Our study did not reproduce the associations previously noted with the TNF, IFNA10, IFNA17, and IFNG genes, which highlights the genetic complexity of the disorder and is in agreement with previous studies showing that CFTR might be an important factor in the clinical course of the disease.
authors: Department of Medical Genetics, Medical School, University of Athens, Athens, Greece. periklis.makrythanasis@unige.ch
authors: Periklis
authors: P
authors: Makrythanasis
authors: Maria
authors: M
authors: Tzetis
authors: Aggeliki
authors: A
authors: Rapti
authors: Athanasios
authors: A
authors: Papatheodorou
authors: Maria
authors: M
authors: Tsipi
authors: Sophia
authors: S
authors: Kitsiou
authors: Alexia
authors: A
authors: Tsiamouri
authors: Myrto
authors: M
authors: Poulou
authors: Charis
authors: C
authors: Roussos
authors: Emmanouel
authors: E
authors: Kanavakis
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000032:analysis; D016022:Case-Control Studies; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006115:Greece; D006801:Humans; D016898:Interferon-alpha / Q000235:genetics*; D007371:Interferon-gamma / Q000235:genetics*; D008875:Middle Aged; D012306:Risk; D017565:Sarcoidosis, Pulmonary / Q000235:genetics*; D048069:Tumor Necrosis Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: D015415:Biomarkers; C469326:IFNA10 protein, human; C471357:IFNA17 protein, human; D016898:Interferon-alpha; D048069:Tumor Necrosis Factors; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D007371:Interferon-gamma