Genotype-Phenotype Correlation for Cystic Fibrosis According to Registry Center of Cystic Fibrosis

Abstract

Objectives: The present study aimed to investigate the correlation of genotype-phenotype in patients with cystic fibrosis (CF) in the Azeri-Turkish population, Iran. Materials and Methods: In this descriptive-analytical study which was conducted according to Registry Center of Cystic Fibrosis, 206 patients with CF were investigated from 2001 to 2017. The data included clinical, laboratory, and genetic results. Descriptive statistics, chi-square test, and independent t test were applied using SPSS version 21.0. The odds ratio with 95% confidence interval and P<0.05 were considered significant. Results: Thirty-one variants and 47 genotypes were observed. The ΔF508 genotype (the most common genotype), especially homozygous and compound heterozygous genotypes were significantly different from other genotypes for chronic sinopulmonary disease, gastrointestinal and nutritional abnormalities, and salt loss syndromes, with a higher sweat test measures, higher mortality rate, and complications. Conclusions: Except for ΔF508, the rest of mutations were the same, and milder clinical course, and most mutations belonged to this group. The challenge in cystic fibrosis consists of no detected mutations and high heterogeneity of cystic fibrosis transmembrane conductance regulator (CFTR) mutations.

Keywords

• cystic fibrosis
• genotype
• phenotype
• mutation
• correlation
• comparison