|Genotype-Phenotype Correlation for Cystic Fibrosis According to Registry Center of Cystic Fibrosis|
|Mandana Rafeey1, Morteza Jabarpoor-Bonyadi2, Leila Vahedi3|
|1Department of Gastroenterology, Tabriz Children’s Hospital, Liver and Gastrointestinal Diseases Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
2Department of Medical Genetics, Faculty of Natural Sciences, Center of Excellence for Biodiversity, University of Tabriz, Liver and Gastrointestinal Diseases Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
3Department of Medical Genetics, Liver and Gastrointestinal Diseases Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
CJMB 2020; 7: 124–129
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Keywords : Cystic fbrosis, Genotype, Phenotype, Mutation, Correlation, Comparison
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Objectives: The present study aimed to investigate the correlation of genotype-phenotype in patients with cystic fbrosis (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% confdence interval and P<0.05 were considered signifcant.
Results: Thirty-one variants and 47 genotypes were observed. The ΔF508 genotype (the most common genotype), especially homozygous and compound heterozygous genotypes were signifcantly 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 fbrosis consists of no detected mutations and high heterogeneity of cystic fbrosis transmembrane conductance regulator (CFTR) mutations.
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