Respiratory Medicine Department, University Hospital Virgen de las Nieves, 18014 Granada, Spain.
Pharmacogenetics Unit, Pharmacy Service, University Hospital Virgen de las Nieves, 18014 Granada, Spain.
Nutrients. 2023 Feb 5;15(4):823. doi: 10.3390/nu15040823.
Asthma is a chronic non-communicable disease that affects all age groups. The main challenge this condition poses is its heterogeneity. The role of vitamin D in asthma has aroused great interest, correlating low vitamin D levels and polymorphisms in the genes involved in its metabolic pathway with the risk of asthma. The aim of this study was to evaluate the influence of 13 single nucleotide polymorphisms (SNPs) related to the vitamin D metabolism on the susceptibility to asthma. An observational case-control study was performed, including 221 patients with asthma and 442 controls of Caucasian origin from southern Spain. The SNPs (rs6068816, rs4809957), (rs10877012, rs4646536, rs703842, rs3782130), (rs7041), (rs10741657) and (ApaI, BsmI, FokI, Cdx2, TaqI) were analyzed by real-time PCR, using TaqMan probes. The logistic regression model adjusted for body mass index revealed that in the genotype model, carriers of the Cdx2 rs11568820-AA genotype were associated with a higher risk of developing asthma ( = 0.005; OR = 2.73; 95% CI = 1.36-5.67; AA vs. GG). This association was maintained in the recessive model ( = 0.004). The haplotype analysis revealed an association between the ACTATGG haplotype and higher risk of asthma for the rs1544410, rs7975232, rs731236, rs4646536, rs703842, rs3782130 and rs10877012 genetic polymorphisms ( = 0.039). The other SNPs showed no effect on risk of developing asthma. The Cdx2 polymorphism was significantly associated with the susceptibility of asthma and could substantially act as a predictive biomarker of the disease.
哮喘是一种影响所有年龄段的慢性非传染性疾病。这种疾病的主要挑战是其异质性。维生素 D 在哮喘中的作用引起了极大的兴趣，低维生素 D 水平和参与其代谢途径的基因多态性与哮喘风险相关。本研究旨在评估与维生素 D 代谢相关的 13 个单核苷酸多态性（SNP）对哮喘易感性的影响。进行了一项观察性病例对照研究，包括 221 名哮喘患者和来自西班牙南部的 442 名白人对照。通过实时 PCR 分析了 SNPs （rs6068816、rs4809957）、 （rs10877012、rs4646536、rs703842、rs3782130）、 （rs7041）、 （rs10741657）和 （ApaI、BsmI、FokI、Cdx2、TaqI），使用 TaqMan 探针。调整体重指数的逻辑回归模型显示，在基因型模型中，Cdx2 rs11568820-AA 基因型携带者发生哮喘的风险更高（ = 0.005；OR = 2.73；95%CI = 1.36-5.67；AA 与 GG）。这种关联在隐性模型中仍然存在（ = 0.004）。单体型分析显示，rs1544410、rs7975232、rs731236、rs4646536、rs703842、rs3782130 和 rs10877012 遗传多态性与 ACTATGG 单体型与哮喘风险增加相关（ = 0.039）。其他 SNP 对哮喘发病风险无影响。Cdx2 多态性与哮喘易感性显著相关，可作为疾病的预测生物标志物。
