Oussama Lahmar1,2, Mariem Salhi3, Wajih Kaabachi4, Anissa Berraies5, Jamel Ammar5, Munawar Hussain Soomro6, Martin Larsen7, Isabella Annesi-Maesano6, Kamel Hamzaoui4, Agnes Hamzaoui5. 1. University of Sciences Tunis, Tunis El Manar University Tunisia, Tunis, Tunisia. lahmer.oussamaa@gmail.com. 2. Medical University Tunis, Tunis El Manar University Tunisia, 15 Rue Djebel Lakhdhar, La Rabta, 1007, Tunis, Tunisia. lahmer.oussamaa@gmail.com. 3. University of Sciences Tunis, Tunis El Manar University Tunisia, Tunis, Tunisia. 4. Expression Moléculaire des interactions Cellulaires et de leurs modes de communication dans le Poumon, UR/12-SP15, Medical Faculty of Tunis, Tunis El Manar University, Tunis, Tunisia. 5. Department of Respiratory Diseases, Hospital A. Mami, Pavillon B, Ariana, Tunisia. 6. Sorbonne Universités, UPMC Univ Paris 06, INSERM, Pierre Louis Institute of Epidemiology and Public Health (IPLESP UMRS 1136), Epidemiology of Allergic and Respiratory Diseases Department (EPAR), Saint-Antoine Medical School, 75012, Paris, France. 7. Inserm UMR-S1135, Center for Immunology and Infectious Diseases (CIMI-Paris), AP-HP, Pitié-Salpêtrière Hospital Group, Department of Immunology, Paris, France, CR7, CIMI Paris, Paris, France.
Abstract
INTRODUCTION: Several studies have shown a strong correlation between the serum vitamin D level and asthma severity and deficits in lung function. OBJECTIVE: Study the relationship between vitamin D and the severity of asthma by targeting five SNPs of vitamin D metabolism gene pathway in a Tunisian adult asthmatics population. METHODS: Our case-control study includes 154 adult asthmatic patients and 154 healthy Tunisian subjects. We genotyped many variants in three human genes encoding key components of the vitamin D metabolism, CYP2R1, CYP27B1, GC. The GC gene rs4588 and rs7041 polymorphisms were analysed using the PCR-RFLP method, while rs10741657 and rs12794714 for CYP2R1 gene and rs10877012 of CYP27B1 gene were investigated using TaqMan PCR genotyping techniques. RESULTS: We found that the presence of at least one copy of the rs12794714 A, allele was associated with lower risk of developing asthma (OR 0.61). Further, the rs12794714 is a protector factor against asthma severity (OR 0.5). However, the presence of rs10877012 TG genotype is a risk factor related to asthma severity (OR 1.89). When we classified the population according to sex, our results showed that rs10877012 TT genotype was a risk factor for women subjects (OR 6.7). Moreover, the expression of TT genotype was associated with a higher risk of asthma in non-smoker patients (OR 7.13). We found a significant lower VD serum levels in asthmatics than controls but no impact of the polymorphisms on VD levels. CONCLUSIONS: We found that rs12794714 and rs10877012 SNPs were associated with asthma risk.
INTRODUCTION: Several studies have shown a strong correlation between the serum vitamin D level and asthma severity and deficits in lung function. OBJECTIVE: Study the relationship between vitamin D and the severity of asthma by targeting five SNPs of vitamin D metabolism gene pathway in a Tunisian adult asthmatics population. METHODS: Our case-control study includes 154 adult asthmatic patients and 154 healthy Tunisian subjects. We genotyped many variants in three human genes encoding key components of the vitamin D metabolism, CYP2R1, CYP27B1, GC. The GC gene rs4588 and rs7041 polymorphisms were analysed using the PCR-RFLP method, while rs10741657 and rs12794714 for CYP2R1 gene and rs10877012 of CYP27B1 gene were investigated using TaqMan PCR genotyping techniques. RESULTS: We found that the presence of at least one copy of the rs12794714 A, allele was associated with lower risk of developing asthma (OR 0.61). Further, the rs12794714 is a protector factor against asthma severity (OR 0.5). However, the presence of rs10877012 TG genotype is a risk factor related to asthma severity (OR 1.89). When we classified the population according to sex, our results showed that rs10877012 TT genotype was a risk factor for women subjects (OR 6.7). Moreover, the expression of TT genotype was associated with a higher risk of asthma in non-smoker patients (OR 7.13). We found a significant lower VD serum levels in asthmatics than controls but no impact of the polymorphisms on VD levels. CONCLUSIONS: We found that rs12794714 and rs10877012 SNPs were associated with asthma risk.
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