Page 91 - Livre électronique du Congrès National de Pneumologie 2018

P12 ASSOCIATION BETWEEN VITAMIN D METABOLISM GENE POLYMORPHISMS AND RISK OF

TUNISIAN ADULTS ASTHMA

O. Lahmar, K. Hamzaoui , A. Hamzaoui
UNIVERSITY OF SCIENCES TUNIS, TUNIS EL MANAR UNIVERSITY TUNISIA, MEDICAL UNIVERSITY TUNIS, HOMEOSTASIS AND
CELL DYSFUNCTION’, TUNIS EL MANAR UNIVERSITY TUNISIA, HOSPITAL A. MAMI, DEPARTMENT OF RESPIRATORY
DISEASES, PAVILLON B ARIANA TUNISIA.

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
genes 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 by using the PCR-RFLP method,
whilers10741657 and rs12794714 for CYP2R1 gene and rs10877012 of CYP27B1 gene were investigated by 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).

Conclusions :

We found that rs12794714 and rs10877012 SNPs were associated with asthma risk.

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