University of Sciences Tunis, Tunis El Manar University Tunisia, Tunis, Tunisia.
Medical University Tunis, Tunis El Manar University Tunisia, 15 Rue Djebel Lakhdhar, La Rabta, 1007, Tunis, Tunisia.
Lung. 2018 Jun;196(3):285-295. doi: 10.1007/s00408-018-0101-2. Epub 2018 Mar 3.
Several studies have shown a strong correlation between the serum vitamin D level and asthma severity and deficits in lung function.
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.
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.
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.
We found that rs12794714 and rs10877012 SNPs were associated with asthma risk.
几项研究表明，血清维生素 D 水平与哮喘严重程度和肺功能缺陷之间存在很强的相关性。
通过针对维生素 D 代谢基因途径中的五个单核苷酸多态性（SNP），研究维生素 D 与突尼斯成年哮喘患者严重程度之间的关系。
我们的病例对照研究包括 154 名成年哮喘患者和 154 名健康的突尼斯受试者。我们对编码维生素 D 代谢关键成分的三个人类基因中的许多变体进行了基因分型，这些基因包括 CYP2R1、CYP27B1 和 GC。GC 基因 rs4588 和 rs7041 多态性采用 PCR-RFLP 方法进行分析，而 CYP2R1 基因 rs10741657 和 rs12794714 以及 CYP27B1 基因 rs10877012 则采用 TaqMan PCR 基因分型技术进行研究。
我们发现，至少携带一个 rs12794714 A 等位基因的存在与患哮喘的风险降低相关（OR 0.61）。此外，rs12794714 是哮喘严重程度的保护因素（OR 0.5）。然而，rs10877012 TG 基因型的存在是与哮喘严重程度相关的危险因素（OR 1.89）。当我们根据性别对人群进行分类时，我们的研究结果表明，rs10877012 TT 基因型是女性的危险因素（OR 6.7）。此外，TT 基因型的表达与非吸烟者患者患哮喘的风险增加相关（OR 7.13）。我们发现哮喘患者的血清 VD 水平明显低于对照组，但多态性对 VD 水平没有影响。
我们发现 rs12794714 和 rs10877012 SNP 与哮喘风险相关。
