Study of association of ACE gene I/D polymorphism with the risk of pulmonary sarcoidosis (with the participation of the Republic of Karelia residents)
https://doi.org/10.18093/0869-0189-2022-32-1-89-94
Abstract
The aim of the study was to analyze the association of I/D polymorphism of angiotensin-converting enzyme (ACE) gene with the risk of pulmonary sarcoidosis in ethnic Russians of the Republic of Karelia.
Methods. The study enrolled 242 individuals, including 112 patients of Russian nationality residing in the Republic of Karelia with confirmed pulmonary sarcoidosis and 130 healthy donors as a control group. The distribution of alleles and genotypes of I/D polymorphism of ACE gene (rs4646994) in these groups was investigated. Alleles of this polymorphic marker were identified by the method of PCR-RFLP.
Results. The comparative analysis showed no statistically significant differences in the distribution of alleles and genotypes of indel locus of ACE gene (rs4646994) between the control group and the group of patients with pulmonary sarcoidosis (χ2 = 0.619; p > 0.05; χ2 = 0.368; p > 0.05, respectively).
Conclusion. I/D polymorphism of ACE gene is not associated with the risk of pulmonary sarcoidosis in ethnic Russians of the Republic of Karelia
About the Authors
I. E. MalyshevaRussian Federation
Irina E. Malysheva, Candidate of Biology, Senior Researcher, Laboratory of Genetics
ul. Pushkinskaya 11, Petrozavodsk, 185910, Republic of Karelia
tel.: (8142 ) 57-31-07
Competing Interests:
The authors declare no conflict of interest
L. V. Topchieva
Russian Federation
Ludmila V. Topchieva, Candidate of Biology, Leading Researcher, Laboratoryof Genetics
ul. Pushkinskaya 11, Petrozavodsk, 185910, Republic of Karelia
tel.: (8142) 57-31-07
Competing Interests:
The authors declare no conflict of interest
E. L. Tikhonovich
Russian Federation
Ella L. Tikhonovich, Candidate of Medicine, Head of Department
ul. Pirogova 3, Petrozavodsk, 185019, Republic of Karelia
tel.: (8142) 76-39-10
Competing Interests:
The authors declare no conflict of interest
References
1. Mukhin N.A., ed. [Sarcoidosis. Clinical guidelines]. Moscow: IMAPRESS; 2009 (in Russian).
2. Judson M.A. The clinical features of sarcoidosis: a comprehensive review. Clin. Rev. Allergy Immunol. 2015; 49 (1): 63–78. DOI: 10.1007/s12016-014-8450-y.
3. Ministry of Health of the Russian Federation. [Sarcoidosis: Clinical guidelines]. Available at: https://spulmo.ru/download/2020_klin_rek_sarkoidoz_final.pdf (in Russian).
4. Vizel’ A.A., Vizel’ I.Yu., Amirov N.B. [Epidemiology of sarcoidosis in the Russian Federation.]. Vestnik sovremennoy klinicheskoy meditsiny. 2017; 10 (5): 66–73. DOI: 10.20969/VSKM.2017.10(5).66-73 (in Russian).
5. Chuchalin A.G., Vizel’ A.A., Il’kovich M.M. et al. [Diagnosis and treatment of sarcoidosis. Summary of federal conciliative clinical recommendations. Part I. Classification, etiopathogenesis, clinic]. Vestnik sovremennoy klinicheskoy meditsiny. 2014; 7 (4): 62–70. 10.20969/ vskm.2014.7(4).62-70 (in Russian).
6. Tikhonovich E.L., Vezikova N.N., Markelova O.A., Malysheva I.E. [Epidemiology, clinical features, diagnosis and treatment of sarcoidosis in Karelia]. Uchenye zapiski Petrozavodskogo gosudarstvennogo universiteta. 2015; 151 (6): 67–71. Available at: https://uchzap.petrsu.ru/files/n151.pdf (in Russian).
7. Mortaz E., Adcock I.M., Abedini A. et al. The role of pattern recognition receptors in lung sarcoidosis. Eur. J. Pharmacol. 2017; 808: 44–48. DOI: 10.1016/j.ejphar.2017.01.020.
8. Rivera N.V., Ronninger M., Shchetynsky K. et al. High-density genetic mapping Identifies new Susceptibility variants in sarcoidosis phenotypes and shows genomic-driven phenotypic differences. Am. J. Respir. Crit. Care Med. 2016; 193 (9): 1008–1022. DOI: 10.1164/rccm.201507-1372OC.
9. Terwiel M., van Moorsel C.H.M. Clinical epidemiology of familial sarcoidosis: a systematic literature review. Respir. Med. 2019; 149: 36–41. DOI: 10.1016/j.rmed.2018.11.022.
10. Karabaeva A.Zh. [Aldosterone, cardiovascular system and kidneys]. Nefrologiya. 2006; 10 (1): 25–34. DOI: 10.24884/1561-6274-2006-10-1-25-34 (in Russian).
11. Shalygin L.D. [Modern views on the mechanisms of blood pressure regulation]. Vestnik Natsional’nogo mediko-khirurgicheskiy tsentra im. N.I. Pirogova. 2015; 10 (2): 109–116. Available at: https://readera.org/sovremennye-predstavlenija-o-mehanizmah-reguljacii-arterialnogo-davlenija-140188411 (in Russian).
12. Chang Y., Wei W. Angiotensin II in inflammation, immunity and rheumatoid arthritis. Clin. Exp. Immunol. 2015; 179 (2): 137–145. DOI: 10.1111/cei.12467.
13. Sarı G., Kurt E., Saydam F. et al. Association between I/D polymorphism in the ACE gene and sarcoidosis in Turkish patients. Cytotechnology. 2015; 67 (6): 1067–1072. DOI: 10.1007/s10616-014-9747-7.
14. Baudin B. [Angiotensin I-converting enzyme (ACE) for sarcoidosis diagnosis]. Pathol. Biol. (Paris). 2005; 53 (3): 183–188. DOI: 10.1016/j.patbio.2004.09.003 (in French).
15. Oktem F., Sirin A., Bilge I. et al. ACE I/D gene polymorphism in primary FSGS and steroid-sensitive nephrotic syndrome. Pediatr. Nephrol. 2004; 19 (4): 384–389. DOI: 10.1007/s00467-003-1398-4.
16. Miller J.A., Scholey J.W. The impact of rennin-angiotensin system polymorphisms on physiological and pathophysiological processes in humans. Curr. Opin. Nephrol. Hypertens. 2004; 13 (1): 101–106. DOI: 10.1097/00041552-200401000-00014.
17. Rigat B., Hubert C., Alhenc-Gelas F. et al. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J. Clin. Invest. 1990; 86 (4): 1343–1346. DOI: 10.1172/jci114844.
18. Song G.G., Kim J.H., Lee Y.H. Associations between the angiotensin-converting enzyme insertion/deletion polymorphism and susceptibility to sarcoidosis: a meta-analysis. J. Renin. Angiotensin. Aldosterone Syst. 2015; 16 (1): 219–226. DOI: 10.1177/1470320313489059.
19. Bickett A.N., Lower E.E., Baughman R.P. Sarcoidosis diagnostic score: a systematic evaluation to enhance the diagnosis of sarcoidosis. Chest. 2018; 154 (5): 1052–1060. DOI: 10.1016/j.chest.2018.05.003.
20. Rigat B., Hubert C., Corvol P., Soubrier F. PCR detection of the insertion/deletion polymorphism of the human angiotensin converting enzyme gene (DCP1) (dypeptidyl carboxypeptidase 1). Nucleic Acids Res. 1992; 20 (6): 1433. 10.1093/nar/20.6.1433-a.
21. Te Riet L., van Esch J.H., Roks A.J. et al. Hypertension: renin-angiotensin-aldosterone system alterations. Circ. Res. 2015; 116 (6): 960–975. DOI: 10.1161/CIRCRESAHA.116.303587.
22. McGrath D.S., Foley P.J., Petrek M. et al. Ace gene I/D polymorphism and sarcoidosis pulmonary disease severity. Am. J. Respir. Crit. Care Med. 2001; 164 (2): 197–201. DOI: 10.1164/ajrccm.164.2.2011009.
23. Alía P., Mañá J., Capdevila O. et al. Association between ACE gene I/D polymorphism and clinical presentation and prognosis of sarcoidosis. Scand. J. Clin. Lab. Invest. 2005; 65 (8): 691–697. DOI: 10.1080/00365510500354128.
24. Yang H., Mo T., Nie W., Li B. Angiotensin converting enzyme I/D polymorphism and sarcoidosis risk. Sarcoidosis Vasc. Diffuse Lung Dis. 2016; 32 (4): 284–288.
Review
For citations:
Malysheva I.E., Topchieva L.V., Tikhonovich E.L. Study of association of ACE gene I/D polymorphism with the risk of pulmonary sarcoidosis (with the participation of the Republic of Karelia residents). PULMONOLOGIYA. 2022;32(1):89-94. (In Russ.) https://doi.org/10.18093/0869-0189-2022-32-1-89-94