|
|
Research progress on genes related to occurrence and differences in treatment response of chronic obstructive pulmonary disease |
DONG Han1 OU Jing1 ZHANG Cheng2 ZHANG Xiangyan2 |
1.Graduate School, Zunyi Medical University, Guizhou Province, Zunyi 563000, China;
2.Department of Respiratory Medicine, Guizhou People’s Hospital, Guizhou Province, Guiyang 550002, China
|
|
|
Abstract Chronic obstructive pulmonary disease (COPD) is a lung disease caused by a combination of genetic and environmental factors, and is characterized by irreversible airflow limitations. In recent years, new discoveries have been made in COPD genetics-related studies, such as the rs8004738 locus of serpin family A member 1, the rs1982073 locus of transforming growth factor β1, protein tyrosine phosphatase non-receptor type 6, telomerase reverse tranasecriptase gene, and matrix metalloproteinases have all been significantly associated with COPD; on this basis, several genes associated with differences in treatment response of COPD were also identified, such as potassium inwardly rectifying channel subfamily J member 2, nuclear receptor subfamily 3 group C member 1, and glucocorticoid inducible transcription factor 1. These newly identified genes and loci provide new insights into the pathogenesis of COPD, provide directions for finding new targets for the diagnosis and treatment of COPD, establish the basis for typing and prediction models for different phenotypes of COPD patients and promote the development of individualized therapy.
|
|
|
|
|
[1] Global strategy for the diagnosis,management and prevention of chronic obstructive pulmonary disease (2022 report)[R/OL]. https: //goldcopd.org/.
[2] Neumeier A,Keith R. Clinical Guideline Highlights for the Hospitalist:The GOLD and NICE Guidelines for the Management of COPD [J]. J Hosp Med,2020,15(4):240-241.
[3] Labaki WW,Rosenberg SR. Chronic Obstructive Pulmonary Disease [J]. Ann Intern Med,2020,173(3):17-32.
[4] GBD 2017 Disease and Injury Incidence and Prevalence Collaborators. Global,regional,and national incidence,prevalence,and years lived with disability for 354 diseases and injuries for 195 countries and territories,1990-2017:a systematic analysis for the Global Burden of Disease Study 2017 [J]. Lancet,2019,393(10190):e44.
[5] Silverman EK,Chapman HA,Drazen JM,et al. Genetic Epidemiology of Severe,Early-Onset Chronic Obstructive Pulmonary Disease [J]. Am J Respir Crit Care Med,1998,157(6):1770-1778.
[6] Christenson SA,Smith BM,Bafadhel M,et al. Chronic obstructive pulmonary disease [J]. Lancet,2022,399(10342):2227-2242.
[7] Agustí A,Melén E,DeMeo DL,et al. Pathogenesis of chronic obstructive pulmonary disease:understanding the contributions of gene-environment interactions across the lifespan [J]. Lancet Respir Med,2022,10(5):512-524.
[8] Brown DG,Wobst HJ. A Decade of FDA-Approved Drugs (2010-2019):Trends and Future Directions [J]. J Med Chem, 2021,64(5):2312-2338.
[9] Ghosh AJ,Hobbs BD. Recent advancements in understanding the genetic involvement of alpha-1 antitrypsin deficiency associated lung disease:a look at future precision medicine approaches [J]. Expert Rev Respir Med,2022,16(2):173- 182.
[10] Foil KE. Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency [J]. Ther Adv Chronic Dis,2021,12_suppl:20406223211015954.
[11] Sangeetha T,Nargis BT,Balamuralikrishnan B,et al. Influence of SERPINA1 Gene Polymorphisms on Anemia and Chronic Obstructive Pulmonary Disease [J]. J Renin Angiot- ensin Aldosterone Syst,2022,2022:2238320.
[12] 邓笑伟,袁存花,常德.SERPINA1基因多态性及吸烟与慢性阻塞性肺疾病易感性关系的研究[J].中华结核和呼吸杂志,2018,41(5):322.
[13] Wang J,Xiang H,Lu Y,et al. Role and clinical significance of TGF β1 and TGF βR1 in malignant tumors [J]. Int J Mol Med,2021,47(4):55.
[14] Liao N,Zhao H,Chen ML,et al. Association between the TGF-β1 polymorphisms and chronic obstructive pulmonary disease:a meta-analysis [J]. Biosci Rep,2017,37(4):BSR 20170747.
[15] Kiratikanon S,Chattipakorn SC,Chattipakorn N,et al. The regulatory effects of PTPN6 on inflammatory process:Reports from mice to men [J]. Arch Biochem Biophys,2022, 721:109189.
[16] Sharma Y,Bashir S,Bhardwaj P,et al. Protein Tyrosine Phosphatase SHP-1:Resurgence as New Drug Target for Human Autoimmune Disorders [J]. Immunol Res,2016,64(4):804-819.
[17] Bossé Y,Lamontagne M,Gaudreault N,et al. Early-Onset Emphysema in a Large French-Canadian Family:A Genetic Investigation [J]. Lancet Respir Med,2019,7(5):427-436.
[18] Dratwa M,Wysoczańska B,?覵acina P,et al. TERT-Regulation and Roles in Cancer Formation[J]. Front Immunol,2020,11:589929.
[19] Stanley SE,Chen JJL,Podlevsky JD,et al. Telomerase Mutations in Smokers with Severe Emphysema [J]. J Clin Invest,2014,125(2):563-570.
[20] Ding Y,Li Q,Wu C,et al. TERT gene polymorphisms are associated with chronic obstructive pulmonary disease risk in the Chinese Li population [J]. Mol Genet Genomic Med,2019,7(8):e773.
[21] Bassiouni W,Ali MAM,Schulz R. Multifunctional intracellular matrix metalloproteinases:implications in disease [J]. FEBS J,2021,288(24):7162-7182.
[22] Christopoulou ME,Papakonstantinou E,Stolz D. Matrix Metalloproteinases in Chronic Obstructive Pulmonary Disease [J]. Int J Mol Sci,2023,24(4):3786.
[23] Jeon S,Kim TK,Jeong SJ,et al. Anti-Inflammatory Actions of Soluble Ninjurin-1 Ameliorate Atherosclerosis [J]. Circulation,2020,142(18):1736-1751.
[24] Bormann T,Maus R,Stolper J,et al. Role of matrix metalloprotease-2 and MMP-9 in experimental lung fibrosis in mice [J]. Respir Res,2022,23(1):180.
[25] Gilowska I,Kasper ?覵,Bogacz K,et al. Impact of Matrix Metalloproteinase 9 on COPD Development in Polish Patients:Genetic Polymorphism,Protein Level,and Their Relationship with Lung Function [J]. Biomed Res Int,2018, 2018:6417415.
[26] Jiang S,Yang ZH,Chen YY,et al. MMP-9 genetic polymorphism may confer susceptibility to COPD [J]. Genet Mol Res,2016,15(2).
[27] Atkinson JJ,Lutey BA,Suzuki Y,et al. The role of matrix metalloproteinase-9 in cigarette smoke-induced emphysema [J]. Am J Respir Crit Care Med,2011,183(7):876-884.
[28] Gilowska I,Majorczyk E,Kasper ?覵,et al. The role of MMP- 12 gene polymorphism-82 A-to-G(rs2276109)in immun- opathology of COPD in polish patients:a case control study [J]. BMC Med Genet,2019,20(1):19.
[29] Tacheva T,Dimov D,Aleksandrova E,et al. The G allele of MMP12-82 A>G promoter polymorphism as a protective factor for COPD in Bulgarian population [J]. Arch Physiol Biochem,2017,123(5):371-376.
[30] Bchir S,Ben Nasr H,Garrouch A,et al. MMP-3(-1171 5A/6A; Lys45Glu)variants affect serum levels of matrix metalloproteinase(MMP)-3 and correlate with severity of COPD:A study of MMP-3,MMP-7 and MMP-12 in a Tunisian population [J]. J Gene Med,2018,20(1).
[31] Tashkin DP,Celli B,Decramer M,et al. Bronchodilator Res- ponsiveness in Patients with COPD [J]. Eur Respir J,2008, 31(4):742-750.
[32] Loth DW,Soler Artigas M,Gharib SA,et al. Genome-wide association analysis identifies six new loci associated with forced vital capacity [J]. Nat Genet,2014,46(7):669-677.
[33] Hardin M,Cho MH,McDonald ML,et al. A Genome-Wide Analysis of the Response to Inhaled Β2-Agonists in Chronic Obstructive Pulmonary Disease [J]. Pharmacogenomics J,2015,16(4):326-335.
[34] Obeidat M,Faiz A,Li X,et al. The Pharmacogenomics of Inhaled Corticosteroids and Lung Function Decline in COPD [J]. Eur Respir J,2019,54(6):1900521.
[35] Rijavec M,■avbi M,Lopert A,et al. GLCCI1 Polymorphism rs37973 and Response to Treatment of Asthma With Inhaled Corticosteroids [J]. J Investig Allergol Clin Immunol,2018,28(3):165-171.
[36] Tantisira KG,Lasky-Su J,Harada M,et al. Genomewide Association between GLCCI1 and Response to Glucocorticoid Therapy in Asthma [J]. N Engl J Med,2011,365(13):1173-1183.
[37] Mosteller M,van den Berge M,Hosking L,et al. Genetic evaluation of the effect of GLCCI1 rs37973 on corticosteroid response in chronic obstructive pulmonary disease [J]. COPD Res Prac,2017,3(1):2. |
|
|
|