Association analysis of the surfactant protein-C gene to childhood asthma

• Published in: The Journal of asthma 2022-01, Vol.59 (1), p.1-11
• Main Authors: Nefzi, Malek, Wahabi, Imen, Hadj Fredj, Sondess, Othmani, Rym, Dabboubi, Rym, Boussetta, Khedija, Fanen, Pascale, Messaoud, Taieb
• Format: Article
• Language: English
• Subjects: Asthma - genetics; Case-Control Studies; Child; childhood asthma; Gene Frequency; genetic association; Genetic Predisposition to Disease; haplotype; Haplotypes; Humans; Lung Diseases, Interstitial; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Pulmonary Surfactant-Associated Protein C - genetics; SFTPC gene; Surface-Active Agents
• ISSN: 0277-0903; 1532-4303
• DOI: 10.1080/02770903.2020.1827419

This study aims to describe the molecular variability in the SFTPC gene in a childhood chronic respiratory disease, asthma, in the Tunisian population and to identify the implications based on a case-control study of p.Thr138Asn (T138N) and p.Ser186Asn (S186N) variants. We used direct sequencing for the genotyping of the SFTPC gene within 101 asthmatic children. The study of T138N and S186N variants in 110 controls is conducted by the PCR-RFLP technique. The molecular study revealed 26 variants including 24 intronic variations and 2 exonic variations (T138N and S186N) with respective frequencies of 16.8% and 18.3%. We conducted a case-control study of the two identified exonic variations. A different genotypic and allelic distribution between the two groups was noted. Only the T138N polymorphism showed a significant association with asthma disease (p