Association Between Vitamin D Metabolism Gene Polymorphisms and Risk of Tunisian Adults’ Asthma

Lahmar, Oussama; Salhi, Mariem; Kaabachi, Wajih; Berraies, A.; Ammar, Jamel; Soomro, Munawar Hussain; Larsen, Martin; Annesi‐Maesano, Isabella; Hamzaoui, Kamel; Hamzaoui, A.

doi:10.1007/s00408-018-0101-2

Cited by 6 publications

(6 citation statements)

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“…Our results were consistent with Li et al and Zhang et al findings . In contrary, a study carried out on Tunisian population denied any correlation between rs4588 variant and bronchial asthma . Another case‐control study carried out among 6‐year‐old Hispanic children showed that rs4588 and rs7041 GC variants are significant determinants of asthma risk in children …”

Section: Discussionsupporting

confidence: 92%

“…In addition, another study done on Chinese population showed that there is a significant correlation of rs7041 GC variant and development of childhood bronchial asthma where G allele confers more risk of asthma occurrence . On the other hand, Lahmar et al found that different genotype frequencies of GC rs7041 polymorphism did not have significant difference among the study groups. Lahmar study concluded that GC gene variants are not associated with adult bronchial asthma occurrence.…”

Section: Discussionmentioning

confidence: 97%

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Association of group‐specific component exon 11 polymorphisms with bronchial asthma in children and adolescents

et al. 2019

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Several studies have investigated the association of Group-specific Component (GC) gene, also known as vitamin D-binding protein (VDBP), and various respiratory disorder susceptibility with conflicting results. In this sense, we aimed to investigate whether rs7041 and rs4588 variants confer susceptibility to bronchial asthma in a sample of an Egyptian population and to elucidate by in silico analysis the structural and functional impact of these variants. Group-specific Component polymorphisms rs7041 and rs4588 were genotyped in 192 Egyptian children and adolescents (96 with asthma and 96 healthy controls) by TaqMan single nucleotide polymorphism genotyping assay. The rs7041 GG genotype showed a significantly elevated frequency among patients under codominant, dominant, recessive and allelic models where the patient group had greater carriage rate of G allele [OR 2.15, CI 95% (1.32-3.50; P = 0.002)], while rs4588 CA and AA genotypes were found to be protective genotypes with controls showing a greater carriage rate of A allele [OR 0.52, CI 95% (0.30 -0.90; P = 0.02)]. Three haplotype allele combinations were identified with frequencies of GC (44.3%), TC (31.3%) and TA (24.5%) in the total study population. GC haplotype was shown to be more frequent in controls, while TC and TA haplotypes were more predominant in the patient group. Only rs7041 variant showed a significant association with family history and pubertal status. In conclusion, both study GC variants could be implicated in childhood bronchial asthma pathogenesis; rs7041 GG genotype and G allele increased asthma risk while rs4588 AA genotype and A allele conferred protection in the study population.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 97%

Association of group‐specific component exon 11 polymorphisms with bronchial asthma in children and adolescents

et al. 2019

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“…Our study included the rs3782130, rs4646536, rs703842 and rs10877012 polymorphisms in the CYP27B1 gene, which were not associated with the susceptibility to asthma. In line with our findings, a study in a Caucasian population (n = 154 cases/154 controls), mentioned above, found no statistically significant association between CYP27B1 rs108777012 and the risk of asthma [ 61 ]. Moreover, a systematic review showed that the rs4646536 and rs703842 polymorphisms are not related to the risk of developing asthma [ 49 ].…”

Section: Discussionsupporting

confidence: 91%

“…In our study, the presence of CYP2R1 rs10741657 was not related to a higher risk of suffering from asthma. Similarly, previous studies conducted in a Caucasian population (n = 154 cases/154 controls) and a Caucasian pediatric population (n = 1386 cases/1305 controls) did not observe any association between this SNP and the susceptibility to asthma [ 49 , 61 ].…”

Section: Discussionsupporting

confidence: 65%

Association between Single Nucleotide Polymorphisms Related to Vitamin D Metabolism and the Risk of Developing Asthma

et al. 2023

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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 CYP24A1 (rs6068816, rs4809957), CYP27B1 (rs10877012, rs4646536, rs703842, rs3782130), GC (rs7041), CYP2R1 (rs10741657) and VDR (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 (p = 0.005; OR = 2.73; 95% CI = 1.36–5.67; AA vs. GG). This association was maintained in the recessive model (p = 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 (p = 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.

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“…，除具有调节钙磷代谢的经典功能外，在细胞增殖、抗感染、炎症、免疫调节等方面的作用日益受到研究者的关注 [2] [7] 。 1.3 单核苷酸多态性遗传变异是个体差异与疾病发生发展的分子基础 [8] ，单核苷酸多态性是最普遍的遗传变异，作为第三代遗传标志物，在诊断基因与疾病之间的关系时更具丰富的动态性和相对稳定的遗传性 [9] 。 1.4 VD 对呼吸系统健康的作用呼吸系统疾病主要包括支气管哮喘、慢性阻塞性肺部疾病、肺结核、急性上呼吸道感染及肺炎等疾病 [10] ，宋航等研究表明 VD 可减轻小儿喘息性疾病 [11] ；黄涛等研究表明 VD 可能影响肺结核患者预后进程 [12] ；王青青等研究表明补充维生素 D 可以改善重度吸烟伴维生素 D 缺乏 COPD 男性患者的肺功能及生活质量，减少急性加重次数 [13] [14] 。李飞等在中国北方汉族人群进行了类似的研究，也并未发现其与支气管哮喘的相关性 [15] 。猜测其可能原因是 rs12794714 位点 (C>T)进行了同义突变，但没有改变其编码的氨基酸序列，未发生结构和功能上的变化。周晓婷等也进行了同类型研究，得到相反的结果，结果表明 CYP2R1 基因多态性与支气管哮喘具有一定的关联性，维生素 D 代谢功能的异常可能影响了支气管哮喘的发生 [16] 。Zhang Y 等人的研究表明 CYP27B1 基因中的 rs4646536 与汉族儿童中支气管哮喘的发生发展有明显的关联性，该位点的表达与支气管哮喘风险增加呈正相关 [17] 。 Oussama L 等人对突尼斯成人支气管哮喘人群做同类型不同国家人群的研究表明该基因的 rs10877012 中 TT 基因型在女性支气管哮喘人群中高于男性支气管哮喘人群且该位点的表达在支气管哮喘的发生发展起到重要作用 [18] 。但于美丽等研究表明 CYP27B1 基因中的 rs10877012 在儿童支气管哮喘中可能因 G/T 突变而与支气管哮喘没有显著的相关性 [19] 。由 [20] 。Zella LA 等人研究发现，GC 基因敲除，可以降低人体血清中 25-(OH)D 含量 [21] 。同时有研究发现支气管哮喘患者肺的功能状态与血清 25-(OH)D 含量成正相关 [22] [26] ，有研究表明，可通过补充 VD 从而改善慢阻肺 [27][28][29] 。David AJ 等人在英国伦敦慢阻肺人群进行抽血样调查研究发现 CY-P2R1 基因与慢阻肺无相关性，维生素 D 途径的遗传变异与维生素 D 的状态或 COPD 的严重程度无关 [30] 。Mathyssen C [31] 。通过查阅大量的文献，未查询到 [32] 。且 Jun Fei 等发现 COPD 患者血清 25(OH)D 水平明显低于对照组 [33] 。以 [34] 。Asadollah Mohammadi 等对伊朗肺结核人群的研究表明 VDR 基因中的 rs7975232、rs1544410 位点基因型分布与肺结核病风险无明显的相关性，但其 rs7975232、rs1544410 的多态性可能对欧洲人群的肺结核起到一定的保护作用 [35] 。 Shih-Wei Lee 等对台湾汉族人群 VDBP 基因中的 rs7041 与肺结核易感性的相关研究表明，Gc1F 携带者和肺结核有一定的关联性 [36] 。其中，在王喜等对新疆哈萨克人群结核病易感基因的研究中心表明，VDR 基因中的 rs731236 中，T 等位基因大多是肺结核病患者共同存在的基因，而 t 等位基因大多为保护人群免受结核杆菌侵扰的保护基因 [37] 。在对伊朗和云南人群肺结核患者进行的一项对于 rs731236 的研究中显示肺结核患者中"tt"基因型的频率比较低。由以上看出，维生素 D 相关基因位点的多态性与肺结核所涉及的耐药性可能存在一定的关联性 [35,38] [39] 。田慧琴等通过对江苏和安徽地区无血缘关系的汉族人群进行分析发现 CYP27B1 基因的 SNP 位点 rs10877012 与鼻腔感染的易感性均未发现有统计学关联…”

Section: 维生素 D 代谢通路基因单核苷酸多态性与呼吸系统疾病的研究进展unclassified

维生素d代谢通路基因单核苷酸多态性与呼吸系统疾病的研究进展

崔¹,

周²,

朱³

et al. 2021

ajcm

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Vitamin D is a kind of fat soluble vitamin, which is essential for human body. In addition to the classical effect of regulating calcium and phosphorus metabolism, it can also participate in the cellular and humoral immune process by regulating the growth, differentiation and metabolism of immune cells. In recent years, a large number of studies have shown that vitamin D deficiency will increase the incidence of respiratory diseases. Respiratory diseases mainly include bronchial asthma, chronic obstructive pulmonary disease, tuberculosis, acute upper respiratory tract infection and pneumonia. Vitamin D metabolic pathway genes play a very important regulatory role in the process of transforming vitamin D into active vitamin D, mainly including cyp2r1, CYP27B1, cyp24a1, VDBP, VDR five genes. Genetic polymorphism of genes is the molecular basis of individual differences and disease development. This paper summarized the research on single nucleotide polymorphisms of vitamin D metabolic pathway gene and respiratory related diseases, and provided new ideas for future treatment.

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Association Between Vitamin D Metabolism Gene Polymorphisms and Risk of Tunisian Adults’ Asthma

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

Cited by 6 publications

References 48 publications

Association of group‐specific component exon 11 polymorphisms with bronchial asthma in children and adolescents

Association of group‐specific component exon 11 polymorphisms with bronchial asthma in children and adolescents

Association between Single Nucleotide Polymorphisms Related to Vitamin D Metabolism and the Risk of Developing Asthma

维生素d代谢通路基因单核苷酸多态性与呼吸系统疾病的研究进展

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