Polymorphic variants of long non-coding RNA genes in the development of type 2 diabetes mellitus

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Аннотация

Type 2 diabetes mellitus (T2DM) is a disease characterized by increased blood glucose, formed as a result of impaired mechanisms of insulin binding to cells. DNA samples of patients with T2DM (N = 535) and healthy individuals (N = 475) were used. We identified the association of lncRNA gene loci LINC02227 rs2149954 (OR = 0.76, P = 0.0083, PFDR = 0.017), LINC00305 rs2850711 (OR = 1.43, P = 0.0017, PFDR = 0.004) and CDKN2B-AS1 rs4977574 (OR = 0.70, P = 0.0001, PFDR = 0.0003) in an additive model with T2DM. The LINC00305 gene locus rs2850711 showed association with fasting glucose level (P = 0.023), C-peptide level (P = 0.00001), LINC02227 rs2149954 and CDKN2B-AS1 rs4977574 loci showed association with hypertension. MALAT rs619586 gene polymorphism was associated with C-peptide (P = 0.017), LDL (P = 0.012) and total cholesterol levels (P = 0.01). CDKN2B-AS1 rs4977574 gene polymorphism showed association with C-peptide levels (P = 0.027). SNP LINC02227 rs2149954 was associated with obesity (P = 0.0011, PFDR = 0.008). MEG3 rs7158663 gene polymorphism was associated with post infarct cardiosclerosis (P = 0.02). ROC curve analysis showed that the studied loci and variables such as sex, age of subjects and BMI level, included in the construction of the risk calculation model, could predict the development of T2DM with a sensitivity of 98.0% and specificity of 97.0%, the area under the AUC curve was 95.30% (95%CI 93.50–97.40).

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Авторлар туралы

O. Kochetova

Ufa Scientific Center of the Russian Academy of Sciences

Хат алмасуға жауапты Автор.
Email: Olga_MK78@mail.ru

Institute of Biochemisrty and Genetics

Ресей, Ufa, 450054

D. Avzaleydiniva

Bashkir State Medical University

Email: Olga_MK78@mail.ru
Ресей, Ufa, 450008

T. Kochetova

Bashkir State Medical University

Email: Olga_MK78@mail.ru
Ресей, Ufa, 450008

T. Viktorova

Bashkir State Medical University

Email: Olga_MK78@mail.ru
Ресей, Ufa, 450008

G. Korytina

Ufa Scientific Center of the Russian Academy of Sciences

Email: Olga_MK78@mail.ru

Institute of Biochemisrty and Genetics

Ресей, Ufa, 450054

Әдебиет тізімі

  1. Татосян К.А., Зиневич Л.С., Демин Д.Э., Шварц А.М. Функциональные особенности длинных некодирующих РНК, содержащих последовательности мобильных генетических элементов // Мол. биология. 2020. Т. 54. № 5. С. 718–724. doi: 10.31857/S0026898420050109
  2. Ji E., Kim C., Kim W., Lee E.K. Role of long non-coding RNAs in metabolic control // Biochimica et Biophysica Acta (BBA) – Gene Regulatory Mechanisms. 2020. V. 1863. № 4. P. 194348. https://doi.org/10.1016/j.bbagrm.2018.12.006
  3. Mahajan A., Taliun D., Thurner M. et al. Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps // Nature Genetics. 2018. V. 50. № 11. P. 1505–1513. doi: 10.1038/s41588-018-0241-6
  4. Pulit S.L., Stoneman C., Morris A.P. et al. Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry // Hum. Mol. Genet. 2019. V. 28. № 1. P. 166–174. doi: 10.1093/hmg/ddy327
  5. Ghaedi H., Zare A., Omrani M.D. et al. Genetic variants in long noncoding RNA H19 and MEG3 confer risk of type 2 diabetes in an Iranian population // Gene. 2018. V. 675. P. 265–271. doi: 10.1016/j.gene.2018.07.002
  6. Bak R.O., Mikkelsen J.G. miRNA sponges: Soaking up miRNAs for regulation of gene expression // Wiley Interdisciplinary Reviews: RNA. 2014. V. 5. № 3. P. 317–333. doi: 10.1002/wrna.1213
  7. Ding G.L., Wang F.F., Shu J. et al. Transgenerational glucose intolerance with Igf2/H19 epigenetic alterations in mouse islet induced by intrauterine hyperglycemia // Diabetes. 2012. V. 61. № 5. P. 1133–1142. doi: 10.2337/db11-1314
  8. Ding H., Wang F., Shi X. et al. LncRNA MALAT1 induces the dysfunction of β cells via reducing the histone acetylation of the PDX-1 promoter in type 1 diabetes // Experimental and Mol. Pathology. 2020. V. 114. doi: 10.1016/j.yexmp.2020.104432
  9. Zeggini E., Weedon M.N., Lindgren C.M. et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes // Science. 2007. V. 316. № 5829. P. 1336–1341. doi: 10.1126/science.1142364
  10. Xiao M., Bai S., Chen J. et al. CDKN2B-AS1 participates in high glucose-induced apoptosis and fibrosis via NOTCH2 through functioning as a miR-98-5p decoy in human podocytes and renal tubular cells // Diabetology & Metabolic Syndrome. 2021. V. 13. № 1. P. 1–12. doi: 10.1186/s13098-021-00725-5
  11. Huang K., Zhong J., Li Q. et al. Effects of CDKN2B-AS1 polymorphisms on the susceptibility to coronary heart disease // Mol. Genet. & Genomic Med. 2019. V. 7. № 11. doi.org/10.1002/mgg3.955
  12. Li H., Han S., Sun Q. et al. Long non-coding RNA CDKN2B-AS1 reduces inflammatory response and promotes cholesterol efflux in atherosclerosis by inhibiting ADAM10 expression // Aging (Albany NY). 2019. V. 11. № 6. P. 1695. doi: 10.18632/aging.101863
  13. Foss-Skiftesvik J., Li S., Rosenbaum A. et al. Multi-ancestry genome-wide association study of 4069 children with glioma identifies 9p21.3 risk locus // Neuro-Oncology. 2023. V. 25. № 9. P. 1709–1720. doi: 10.1093/neuonc/noad042
  14. Deelen J., Beekman M., Uh H.W. et al. Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age // Hum. Mol. Genet. 2014. V. 23. № 16. P. 4420–4432. doi: 10.1093/hmg/ddu139
  15. Martin S., Cule M., Basty N. et al. Genetic evidence for different adiposity phenotypes and their opposing influences on ectopic fat and risk of cardiometabolic disease // Diabetes. 2021. V. 70. № 8. P. 1843–1856. doi: 10.2337/db21-0129
  16. Zhang D.D., Wang W.T., Xiong J. et al. Long noncoding RNA LINC00305 promotes inflammation by activating the AHRR-NF-κB pathway in human monocytes // Sci. Reports. 2017. V. 7. № 1. doi: 10.1038/srep46204
  17. Dedov I., Shestakova M., Benedetti M.M. et al. Prevalence of type 2 diabetes mellitus (T2DM) in the adult Russian population (NATION study) // Diabetes Res. and Clin. Practice. 2016. V. 115. P. 90–95. doi: 10.1016/j.diabres.2016.02.010
  18. Алфёрова В.И., Мустафина С.В. Распространенность ожирения во взрослой популяции Российской Федерации // Ожирение и метаболизм. 2022. Т. 19. № 1. С. 96–105. https://doi.org/10.14341/omet12809
  19. Дедов И.И., Шестакова М.В., Майоров А.Ю. и др. Алгоритмы специализированной медицинской помощи больным сахарным диабетом // Сахарный диабет. 2022. Т. 24. № 1S. С. 1–148. doi: 10.14341/DM20171S8
  20. Purcell S., Neale B., Todd-Brown K. et al. PLINK: A tool set for whole-genome association and population-based linkage analyses // Am. J. Hum. Genet. 2007. V. 81. № 3. P. 559–575. doi: https://doi.org/10.1086/519795
  21. Cao L., Yan G., Yu S. et al. Associations of MALAT1 and its functional single nucleotide polymorphisms with cancer // Pathology-Res. and Practice. 2022. V. 236. doi: 10.1016/j.prp.2022.153988
  22. Yang W., Lyu Y, Xiang R., Yang J. The role of genetic variants in the long non-coding RNA genes MALAT1 and H19 in the pathogenesis of childhood obesity, long non-coding RNAs in the pathogenesis of insulin resistance // Int. J. Mol. Sci. 2022. V. 23. № 24. doi: 10.3390/ijms232416054
  23. Wain L.V., Verwoert G.C., O’Reilly P.F. et al. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure // Nat. Genetics. 2011. V. 43. № 10. P. 1005–1011. doi: 10.1038/ng.922
  24. David-Silva A., Freitas H.S., Okamoto M.M. et al. Hepatocyte nuclear factors 1α/4α and forkhead box A2 regulate the solute carrier 2A2 (Slc2a2) gene expression in the liver and kidney of diabetic rats // Life Sci. 2013. V. 93. № 22. P. 805–813. doi: 10.1016/j.lfs.2013.10.011
  25. Czech M.P., Tencerova M., Pedersen D.J., Aouadi M. Insulin signalling mechanisms for triacylglycerol storage // Diabetologia. 2013. V. 56. P. 949–964. doi: 10.1007/s00125-013-2869-1
  26. Castellanos-Rubio A., Ghosh S. Disease-associated SNPs in inflammation-related lncRNAs // Front. Immunol. 2019. V. 10. doi: 10.3389/fimmu.2019.00420
  27. Wahba A.S., Ibrahim M.E., Mesbah N.M. et al. Serum LINC00305 expression and its genetic variant rs2850711 are associated with clinical and laboratory features of rheumatoid arthritis // Brit. J. Biomed. Sci. 2020. V. 77. № 3. P. 142–147. doi: 10.1080/09674845.2020.1744942
  28. O’Donnell C.J., Cupples L.A., D’Agostino R.B. et al. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI’s Framingham Heart Study // BMC Med. Genet. 2007. V. 8. P. 1–12. doi: 10.1186/1471-2350-8-S1-S4
  29. Zhang D-D., Wang W-T., Xiong J. et al. Long noncoding RNA LINC00305 promotes inflammation by activating the AHRR-NF-κB pathway in human monocytes // Sci. Reports. 2017. V. 7. № 1. https://doi.org/10.1038/srep46204
  30. Rivera N.V., Carreras-Torres R., Roncarati R. et al. Assessment of the 9p21.3 locus in severity of coronary artery disease in the presence and absence of type 2 diabetes // BMC Med. Genet. 2013. V. 14. P. 1–8. doi: 10.1186/1471-2350-14-11
  31. Wei B., Liu Y., Li H. et al. Effect of 9p21.3 (lncRNA and CDKN2A/2B) variant on lipid profile // Front. in Cardiovascular Med. 2022. V. 9. doi: 10.3389/fcvm.2022.946289
  32. Altshuler D., Anand S.S., Andersen K. et al. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease // Nat. Genet. 2011. V. 43. № 4. P. 333–338. doi: 10.1038/ng.784
  33. Xu B., Fang Z., He S. et al. ANRIL polymorphism rs4977574 is associated with increased risk of coronary artery disease in Asian populations: A meta-analysis of 12,005 subjects // Medicine. 2018. V. 97. № 39. doi: 10.1097/MD.0000000000012641
  34. Taheri M., Pouresmaeili F., Omrani M.D. et al. Association of ANRIL gene polymorphisms with prostate cancer and benign prostatic hyperplasia in an Iranian population // Biomarkers in Medicine. 2017. V. 11. № 5. P. 413–422. https://doi.org/10.2217/bmm-2016-0378
  35. Ward L.D., Kellis M. HaploReg v4: Systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease // Nucl. Ac. Res. 2016. V. 44. № D1. P. D877–D881. doi.org/10.1093/nar/gkv1340
  36. Kokkinopoulou I., Diakoumi A., Moutsatsou P. Glucocorticoid receptor signaling in diabetes // Int. J. Mol. Sci. 2021. V. 22. № 20. doi: 10.3390/ijms222011173
  37. Kong Y., Sharma R.B., Nwosu B.U., Alonso L.C. Islet biology, the CDKN2A/B locus and type 2 diabetes risk // Diabetologia. 2016. V. 59. № 8. P. 1579–1593. doi: 10.1007/s00125-016-3967-7
  38. Holdt L.M., Teupser D. Long Noncoding RNA ANRIL: Lnc-ing genetic variation at the chromosome 9p21 locus to molecular mechanisms of atherosclerosis // Front. in Cardiovascular Med. 2018. V. 5. doi: 10.3389/fcvm.2018.00145
  39. Li Q., Zhu W., Zhang B. et al. The MALAT1 gene polymorphism and its relationship with the onset of congenital heart disease in Chinese // Biosci. Rep. 2018. V. 38. № 3. doi: 10.1042/BSR20171381
  40. Zheng J., Pang C.H., Du W. et al. An allele of rs619586 polymorphism in MALAT1 alters the invasiveness of meningioma via modulating the expression of collagen type V alpha (COL5A1) // J. Cel. Mol. Med. 2020. V. 24. № 17. P. 10223–10232. doi.org/10.1111/jcmm.15637
  41. Chen S., Qian J., Shi X. et al. Control of hepatic gluconeogenesis by the promyelocytic leukemia zinc finger protein // Mol. Endocrin. 2014. V. 28. № 12. P. 1987–1998. doi: 10.1210/me.2014-1164
  42. Kavitha B., Ranganathan S., Gopi S. et al. Molecular characterization and re-interpretation of HNF1A variants identified in Indian MODY subjects towards precision medicine // Front. in Endocrin. 2023. V. 14. doi: 10.3389/fendo.2023.1177268
  43. Wang G., Li Y., Peng Y. et al. Association of polymorphisms in MALAT1 with risk of coronary atherosclerotic heart disease in a Chinese population // Lipids in Health and Disease. 2018. V. 17. P. 1–7. https://doi.org/10.1186/s12944-018-0728-2

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