Advances in Single Nucleotide Polymorphisms of Vitamin D Metabolic Pathway Genes and Respiratory Diseases

Zhilu Li (First Clinical College of Hainan Medical College)
Honghai Li (First Clinical College of Hainan Medical College)
Saijia Li (First Clinical College of Hainan Medical College)
Yingjing Du (First Clinical College of Hainan Medical College)
Bingxin Xu (First Clinical College of Hainan Medical College)
Yuxuan Wang (School of Public Health, Hainan Medical College)
Yiyu Cai (School of Tropical Medicine and Laboratory, Hainan Medical University)


Vitamin D is a fat-soluble vitamin. It is an essential vitamin for human body. It has a classical effect on regulating calcium and phosphorus metabolism. Participate in cellular and humoral immune processes by regulating the growth, differentiation and metabolism of immune cells. A large number of studies in recent years have shown that vitamin D deficiency increases 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 transformation of vitamin D into active vitamin D, including CYP2R1,,CYP27B1, CYP24A1, VDBP, VDR five genes. Genetic polymorphism of genes is the molecular basis of individual differences and disease development. Therefore, this paper summarizes the research on single nucleotide polymorphism of vitamin D metabolic pathway gene and respiratory diseases. In order to provide a new idea for future treatment.


Vitamin D metabolic pathway genes; Single nucleotide polymorphisms; Respiratory diseases

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Xie Zhongjian, Cheng Qun, Ding Yue. J]. D Vitamin Metabolism and Effects Chinese Journal of Osteoporosis and Bone Mineral Salt Disease, 2018 (01):26-33.

C hen Xue ,C hen Meng .Vitamin D and childhood asthma [J]. Journal of Nanjing Medical University (Natural Sciences), 2020(03):454-460.

Zeng Qin, Yuan Jingjing, Xie Zhongjian. Research Status of Vitamin D and Thyroid Cancer [J]. Chinese Journal of Endocrine Metabolism,2017(06):525-528.

Wu Lily, Liu Chunli. Vitamin D [J]. Respiratory Infections Chinese Medicine, 2018(02):159-163.

ChenSai-Ming, ZhouXiao-Liu, LIZhi-Lu, et al. Association between the genetic variation of vitamin D binding protein gene and chronic sinusitis of elder in Hainan province[J]. Chinese Journal of Gerontology, 2019(11):2694-2697.

Yu Song Cheng. Relationship between gene polymorphism, copy number and methylation variation of vitamin D metabolic pathway and type 2 diabetes mellitus [D]. Zhengzhou: Zhengzhou University, 2018.

Li Jiaheng. Study on the relationship between vitamin D level and gene expression and embryo quality related to its metabolic pathway [D]. Zhengzhou: Zhengzhou University, 2019.

Wang Hui, Li Zhilu, Zhang Yong, et al. Correlation analysis of single nucleotide polymorphism of ABCG1gene and cerebral infarction in Li nationality of Hainan province[J]. Chinese Journal of Behavioral Medicine and Brain Science, 2019 (08):705-709.

D ai Si-Min, Q in Zhi-Qiang,Lu Chao ,et al. Progress of research on associa ti on between schistosomiasis and single nucleotide polymorphisms [J]. Chinese Journal of Schistosomiasis Control,2018(06):702-704.

Wu Ying, Zeng Huiqing, Huang Qiufen, et al. Advances in the relationship between vitamin D and respiratory diseases [J]. Journal of Clinical Pulmonary Medicine, 2020(06):958-961.

Song Hang, Chen Lei, Zhang Yunfeng, et al. Vitamin D and pediatric asthmatic diseases [J]. China Experimental Diagnostics ,2018(10):1863-1865.

Huang Tao, Tang Xianzhen, Chen Qing, et al. Analysis of serum vitamin D level and clinical characteristics in elderly patients with pulmonary tuberculosis [J]. Chinese Journal of Geriatrics ,2020(06):618-621.

Chronic obstructive pulmonary disease D risk of deterioration or [J]. Reduction Chinese Medical Information Bulletin, 2019(03):9.

Bu FX, Armas L, Lappe J, et al. Comprehensive association analysis of nine candidate genes with serum 25-hydroxy vitamin D levels among healthy Caucasian Subjects[J]. Hum Genet 2010(128):549-556.

Li Fei. Study on Vitamin D and Bronchial Asthma susceptibility and Related Phenotypes of Han Chinese [D]. Beijing:Northern China Peking Union Medical College, 2011.

Zhou Xiaoting. The Effect of Vitamin D on Expression of Vascular Endothelial Growth Factor and Permeability of Human Bronchial Epithelial Cells [D]. Stimulation Southern Medical University ,2011.

Zhang Y, Wang Z,Ma T. Associations of Genetic Polymorphisms Relevant to Metabolic Pathway of Vitamin D3 with Development and Prognosis of Childhood Bronchial Asthma[J]. DNA Cell Biol. 2017 (08):682-692.

Lahmar O,Salhi M,Kaabachi W,et al.Association Between Vitamin D Metabolism Gene Polymorphisms and Risk of Tunisian Adults’Asthma[J]. Lung.2018 (03):285-295.

in beauty, Ma Zhaoyue. Relationship between RAD50、CDHR3、CYP27B1 gene polymorphism and susceptibility to asthma in children [J].]1 Shandong Medicine ,2016(13):59-61.

Armaud J,Constans J.Affinity differences for vitamin D metabolites associated with the genetic isoforms of the human serum carrier protein (DBP)[ J]. Hum Genet 1993 (02):183-188.

Zella LA,Shevde NK,Hollis BW,et al.Vitamin D-binding protein influences total circulating levels of 1,25-dihydroxyvitamin D3but does not directly modulate the bioactive levels of thehormone in vivo [J]. Endocrinology 2008:3656-3667.

Bosse Y,Maghni K,Hudson, 25-Dihydroxy-vitamin D3stimulation of bronchial smoothmuscle cells induces autocrine, contractility and remodelling processes [J]. Physiol Genomics, 2007(29):161-168.

Moria, Deng Yongchao, Huang Caizhi, et al. Study on the correlation between polymorphism of vitamin D receptor gene and asthma in children [J]. Chinese Journal of Child Health, 2015(07):742-744.

Nasiri-Kalmarzi R, Abdi M,Hosseini J, et al .Association of vitamin D genetic pathway with asthma susceptibility in the Kurdish population [J]. J Clin Lab Anal. 2020(01):e23039.

Tizaoui K, Berraies A, Hamdi B, et al .Association of vitamin D receptor gene polymorphisms with asthma risk: systematic review and updated meta‐analysis of case‐control studies [J]. Lung.2014(06):955-965.

Sootao, Hook. The effect of vitamin D on common respiratory diseases [J]. Hainan Medical Science, 2017(15):2516-2519.

Chen Zhaocong. Re-recognition D Vitamin [J]. Medical Bulletin, 2011 (05):555-560.

N anzer A M,C hambers E S,R yanna K,et al.The effects of calcitriol treatment in glucocorticoid-resistant asthma[J]. J Allergy Clin Immunol, 2014(06):1755-1757.

M artineau A R, J ames W Y, H ooper R L, et al. Vitamin D3supplementation in patients with chronic obstructive pulmonary disease (ViDico): a multicentre, double-blind, randomised controlled trial[J]. Lancet Respir Med .2015(02):120-130.

Jolliffe DA,James WY,Hooper RL,et al.Prevalence,determinants and clinical correlates of vitamin D deficiency in patients with Chronic Obstructive Pulmonary Disease in London,UK[J]. Steroid Biochem Mol Biol.2018:138-145.

Mathyssen C,Aelbrecht C,Serre J,et al.Local expression profiles of vitamin D-related genes in airways of COPD patients [J]. Respir Res.2020(01):137.

HuG,DongT,WangS,etal .Vitamin D3-vitamin D receptor axis suppresses pulmonaryemp -hysema by maintaining alveolar macrophage homeostasis and function [J]. EBioMedicine. 2019(45):563-577.

Fei J,Fu L,Cao W,et al .Low Vitamin D Status Is Associated with Epithelial-Mesenchymal Tra -nsition in Patients with Chronic Obstructive Pulmonary Disease.J Immunol.2019(06):1428-1435.

Junaid K,Rehman A,Jolliffe DA,et al.Vitamin D deficiency associates with susceptibility to tuberculosis in Pakistan,but polymorphisms in VDR,DBP and CYP2R1do not[J]. BMC Pulm Med.2016(01):73.

Mohammadi A, Khanbabaei H, Nasiri-Kalmarzi R, et al.Vitamin D receptor ApaI (rs7975232), BsmI (rs1544410), Fok1(rs2228570), and TaqI (rs731236) genepolymorphisms and susceptibility to routine tuberculosis in an Iranian population: A systematic review and meta-analysis [J]. J Microbiol Immunol Infect. 2019(19):30146.

Lee SW, Chuang TY, Huang HH,et al. VDR and VDBP genes polymorphisms associated with susceptibility to tuberculosis in a Han Taiwanese population[J]. J Microbiol Immunol Infect. 2016(05):783-787.

Wang Xi, Yang Yuejin, Wu Fang, et al. Case-control study on susceptibility genes to tuberculosis in Kazak population in Xinjiang [J]. China Chinese Journal of Comorbidity, 2011(03):206-211.

Liu Xing, Sun Hui, du Yingrong, et al. The association of VDR gene polymorphism with multidrug-resistant pulmonary tuberculosis [J]. Journal of Kunming Medical University, 2020(03):22-29.

Jolliffe DA,Greiller CL,Mein CA,et al.Vitamin D receptor genotype influences risk of upper respiratory infection [J]. Br J Nutr. 2018(08):891-900.

Tian Huiqin, Wu Zhongfei, Lu Ying, et al. Study on the association of GC and CYP27B1 gene polymorphisms with persistent allergic rhinitis sensitized by dust mites in Han population [J].Journal of Otolaryngology, Shandong University ,2019 (03):71-78.

Martineau AR,Hanifa Y,Witt KD,et al. Double-blind randomised controlled trial of vitamin D3supplementation for the prevention of acute respiratory infection in older adultsand their carers [J]. Thorax,2015:953–960.

Hypponen E,Berry DJ,Wjst M,et al. Serum 25-hydroxyvitamin D and IgE -a significant but nonlinear relationship[J]. Allergy, 2009(04):613-620.

Jolliffe DA,Griffiths CJ,Martineau AR.Vitamin D in the prevention of acute respiratory infection:systematic review of clinical studies.J Steroid Biochem Mol Biol. 2013(136):321-329.

Ren Jing. Relationship between Vitamin D and Receptor Gene Polymorphism and Susceptibility of Neonatal Respiratory Syncytial Virus Pneumonia [D]. Suzhou: Suzhou University, 2013.



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