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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., Author(s): Oussama Lahmar [sup.1] [sup.6] , Mariem Salhi [sup.1] , Wajih Kaabachi [sup.2] , Anissa Berraies [sup.3] , Jamel Ammar [sup.3] , Munawar Hussain Soomro [sup.4] , Martin Larsen [sup.5] [...]

Author(s): Rihab Charrad [sup.1] [sup.2] , Wajih Kaabachi [sup.2] , Ahlem Rafrafi [sup.2] , Anissa Berraies [sup.1] [sup.2] , Kamel Hamzaoui [sup.2] , Agnes Hamzaoui [sup.1] [sup.2] Author Affiliations: (1) [...]

Background The association between vitamin D receptor (VDR) polymorphisms and asthma risk has been inconsistently investigated, but published studies demonstrated conflicting results. The aim of the current study was to investigate the impact of TaqI, BsmI, ApaI, and FokI VDR polymorphisms on asthma disease by using a meta-analysis approach. Methods Following the preferred reporting items for systematic reviews and meta-analyses guidelines, a systematic search and meta-analysis of the literature were conducted. Subgroup analyses were performed to detect potential sources of heterogeneity from selected study characteristics. Results A total of 2,097 cases and 1,968 controls in eight case-control studies were included in meta-analyses. A significant association was found between TaqI polymorphisms and asthma risk [OR 1.488 (95 % CI 1.019-2.174); P = 0.040] in a codominant model. In the same way, BsmI was significantly associated with asthma risk [OR 2.017 (95 % CI 1.236-3.851); P = 0.017] in the codominant model. The homozygote BB BsmI genotype was found to confer significant asthma risk. FokI polymorphism was marginally associated with asthma risk [OR 1.187 (95 % CI 0.975-1.446); P = 0.088] in the codominant model. In contrast, no significant association was found between ApaI polymorphism and asthma risk. Subgroup analyses revealed that gender and age modified significantly the association between FokI polymorphisms and asthma risk (P = 0.035 and 0.013, respectively). Publication year and serum 25(OH) D level tended, marginally, to moderate the association between FokI polymorphism and asthma risk. Conclusion TaqI, BsmI, and FokI VDR polymorphisms contribute to asthma susceptibility. The association between FokI polymorphism and asthma risk is influenced by study characteristics., Author(s): Kalthoum Tizaoui[sup.1] , Anissa Berraies[sup.1] [sup.2] , Besma Hamdi[sup.1] [sup.2] , Wajih Kaabachi[sup.1] , Kamel Hamzaoui[sup.1] , Agnès Hamzaoui[sup.1] [sup.2] Author Affiliations: (1) Department of Basic Sciences, Medicine Faculty [...]