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MOLECULAR GENETIC STUDIES OF COMORBIDITY

https://doi.org/10.20538/1682-0363-2015-6-94-102

Abstract

This review focuses at the problem of the genetic basis of comorbidity. We discuss the concepts and terms relating to combinations of diseases. The guidelines of the study of comorbidity using modern high throughput methods and approaches of genetics, molecular biology and bioinformatics are designated. In this review we present results of studies showing genetic specificity for the combined phenotypes dif-ferent from the isolated disease, we considergene-gene and gene-environment interactions in comorbidity. We also discuss the role of single nucleotide polymorphisms and structural genome variations in the
development of comorbidity. Own results of researching shared genes of inversely comorbid diseases like as bronchial asthma and
tuberculosis are presented.

About the Authors

Ye. Yu. Bragina
Research Institute for Medical Genetics, Tomsk, Russian Federation
Russian Federation
Research Institute for Medical Genetics, Tomsk, Russian Federation


M. B. Freidin
Research Institute for Medical Genetics, Tomsk, Russian Federation
Russian Federation
Research Institute for Medical Genetics, Tomsk, Russian Federation


References

1. Feinstein A.R. Pre-therapeutic classification of co-morbidity in chronic disease. J. Chron. Dis., 1970, vol. 23, no. 7, pp. 455–468.

2. Puzyrev V.P. Geneticheskuy vzglyad na fenomen sozetannoy patologi u zeloveka [Genetic view on the phenomenon of combined pathology in human]. Med. Genetika – Medical Genetics, 2008, vol. 7, no. 9, pp. 3–9 (in Russian).

3. Pfaundler M., von Seht L. Ьber Syntropie von Krankheitszustдnden. Z. Kinderheilk, 1921, Bd. 30. S. 298–313.

4. Puzyrev V.P., Freidin M.B. Genetic view on the phenomenon of combined diseases in man. Acta Naturae, 2009, vol. 1, no. 3, pp. 52–57.

5. Tabarйs-Seisdedos R., Rubenstein J.L. Inverse cancer comorbidity: a serendipitous opportunity to gain insight into CNS disorders. Nat. Rev. Neurosci., 2013, vol. 14, pp. 293–304.

6. Ibбсez K., Boullosa C., Tabarйs-Seisdedos R. et al. Molecular evidence for the inverse comorbidity between central nervous system disorders and cancers detected by transcriptomic meta-analyses. PLoS Genetics, 2014, vol. 1 0, pp. e1004173.

7. Puzyrev V.P. Genetizeskiye osnovi komorbidnosty u zeloveka [Genetic Bases of Human Comorbidity]. Genetika – Genetics, 2015, vol. 51 , no. 4, pp. 491–502 (in Russian).

8. Goh K.I., Cusick M.E., Valle D. et al. The human disease network. Proc. Natl. Acad. Sci. U S A, 2007, vol. 104, no. 21, pp. 8685–8690.

9. Desikan R.S., Schork A.J., Wang Y. et al. Polygenic Overlap Between C-Reactive Protein, Plasma Lipids and Alzheimer's Disease. Circulation, 2015, vol. 131, no. 23, pp. 2061–2009. doi: 10.1161/CIRCULATIONAHA.115.015489.

10. Postma D.S., Kerkhof M., Boezen H.M., Koppelman G.H. Asthma and chronic obstructive pulmonary disease: common genes, common environments? Am. J. Respir. Crit. Care Med., 2011, vol. 183, no. 12, pp. 1588–1594. doi: 10.1164/rccm.201011-1796PP.

11. Bergmann R.L., Wahn U., Bergmann K.E. The allergy march: from food to pollen. Environ Toxicol. Pharmacol., 1997. vol. 4, no. 1–2, pp. 79–83.

12. Freidin M.B., Puzyrev V.P. Analiz geneticheskoy predraspolozhennosti k tuberkulezu legkih v russkoy populjacii [Analysis of Genetic Predisposition to Pulmonary Tuberculosis in Native Russians]. Genetika – Genetics, vol. 46, no. 2, pp. 255–261 (in Russian).

13. Li J., Zhang Y., Zhang L. Discovering susceptibility genes for allergic rhinitis and allergy using a genome-wide association study strategy. Curr. Opin. Allergy ClinImmunol., 2015, vol. 15, no. 1, pp. 33–40. doi: 10.1097/ACI.0000000000000124.

14. Portelli M.A., Hodge E., Sayers I. Genetic risk factors for the development of allergic disease identified by genomewide association. Clin. Exp. Allergy., 2015, vol. 45, no. 1, pp. 21–31. doi: 10.1111/cea.12327.

15. Puzyrev V.P. Fenomno-genomniye otnoscheniya i patogenetika mnogofactornih sabolevaniy [Fenom-genomic relationships and pathogenetics of multifactorial diseases]. Vestnik Rossiyskoy akademii nauk – Herald of the Russian Academy of Sciences, 2011, no. 9, pp. 17–27 (in Russian).

16. Puzyrev V.P., Stepanov V.A., Makeyeva О.А. Syntropniye geny bolezney serdechno-sosudistogo kontinuuma [Syntrophy genes of diseases of the cardiovascular continuum]. Med. genetika – Medical Genetics, 2009, no. 3, pp. 31–48 (in Russian).

17. Tettey P., Simpson S. Jr., Taylor B.V., van der Mei I.A. The co-occurrence of multiple sclerosis and type 1 diabetes: shared aetiologic features and clinical implication for MS aetiology. J. Neurol. Sci., 2015, vol. 348, no. 1–2, pp. 126–131. doi: 10.1016/j.jns.2014.11.019.

18. Lazъrovб I., Jochmanovб I., Benhatchi K., Sotak S. Autoimmune thyroid disease and rheumatoid arthritis: relationship and the role of genetics. Immunol. Res., 2014, vol. 60, no. 2–3, pp. 193–200. doi: 10.1007/s12026-014-8598-9.

19. Buysschaert M. Coeliac disease in patients with type 1 diabetes mellitus and auto-immune thyroid disorders. Acta Gastroenterol. Belg., 2003, vol. 66, no. 3, pp. 237–240.

20. Cotsapas C., Voight B.F., Rossin E. et al. Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet., 2011, vol. 7, no. 8. e1002254. doi: 10.1371/journal.pgen.1002254.

21. Marcovitz P.A., Tran H.H., Franklin B.A. et al. Usefulness of bone mineral density to predict significant coronary artery disease. Am. J. Cardiol., 2005, vol. 96, no. 8, pp. 1059–1063.

22. Ramsey-Goldman R., Manzi S. Association of osteoporosis with cardiovascular disaese in women with systemic lupus erythematosus. Arthritis and Rheumatism, 2001, vol. 44, pp. 2338–2341.

23. McFarlane S.I., Muniyappa R., Shin J.J., Bahtiyar G., Sowers J.R. Osteoporosis and cardiovascular disease: brittle bones and boned arteries, is there a link? Endocrine, 2004, vol. 23, no. 1, pp. 1–10.

24. Marini F., Brandi M.L. Genetic determinants of osteoporosis: common bases to cardiovascular diseases? Int. J. Hypertens., 2010. pii: 394579. doi: 10.4061/2010/394579.

25. Sprini D., Rini G.B., Di Stefano L. et al. Correlation between osteoporosis and cardiovascular disease. Clin. Cases Miner Bone Metab., 2014, vol. 11, no. 2, pp. 117–119.

26. McIntyre R.S., Konarski J.Z., Wilkins K. et al. The prevalence and impact of migraine headache in bipolar disorder: results from the Canadian Community Health Survey. Headache, 2006, vol. 46, no 6, pp. 973–982.

27. Oedegaard K.J., Greenwood T.A., Lunde A. et al. A genomewide linkage study of bipolar disorder and co-morbid migraine: replication of migraine linkage on chromosome 4q24, and suggestion of an overlapping susceptibility region for both disorders on chromosome 20p11. J. Affect Disord., 2010, vol. 122, no. 1–2, pp. 14–26. doi: 10.1016/j.jad.2009.06.014.

28. Blair D.R., Lyttle C.S., Mortensen J.M. et al. A nondegenerate code of deleterious variants in Mendelian loci contributes to complex disease risk. Cell, 2013, vol. 26, no. 155 (1), pp. 70–80. doi: 10.1016/j.cell.2013.08.030.

29. Baurecht H., Hotze M., Brand S. et al. Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. Am. J. Hum. Genet., 2015, vol. 96, no. 1, pp. 104–120. doi: 10.1016/j.ajhg.2014.12.004.

30. Park S., Yang J.S., Kim J. et al. Evolutionary history of human disease genes reveals phenotypic connections and comorbidity among genetic diseases. Sci Rep., 2012, vol. 2, pp. 757. doi: 10.1038/srep00757.

31. Gonzбlez J.R., Cбceres A., Esko T. et al. A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity. Am J Hum Genet., 2014, vol. 94, no. 3, pp. 361–372. doi: 10.1016/j.ajhg.2014.01.015.

32. Tabarйs-Seisdedos R., Dumont N., Baudot A. et al. No paradox, no progress: inverse cancer comorbidity in people with other complex diseases. Lancet Oncol., 2011, vol. 12, pp. 604–608.

33. Palmer C.N., Irvine A.D., Terron-Kwiatkowski A. et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat. Genet., 2006, vol. 38, pp. 441–446.

34. Freidin M.B., Bragina Ye.Yu., Saltikova I.V. et al. Vliyaniye dopolnitelnoy bolesni (komorbidnosty) na associaciyu aller-gizheskogo rinita s variantom rs12621643 gena KCNE4 [Effect of additional disease (comorbidity) on association of

35. allergic rhinitis with KCNE4 gene rs12621643 variant]. Genetika – Genetics, 2013, vol. 49, no. 4, pp. 541–544 (in Russian).

36. Saltykova I.V., Ogorodova L.M., Bragina E.Yu. et al. Opisthorchis felineus liver fluke invasion is an environmental factor modifying genetic risk of atopic bronchial asthma. Acta Trop, 2014, vol. 139, pp. 53–56. doi:10.1016/j.actatropica.2014.07.004.

37. Edwards A.C., Aliev F., Bierut L.J. et al. Genome-wide association study of comorbid depressive syndrome and alcohol dependence. Psychiatr Genet., 2012, vol. 22, no. 1, pp. 31–41. doi: 10.1097/YPG.0b013e32834acd07.

38. Jacobsen K.K., Nievergelt C.M., Zayats T. et al. Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder. J. Affect Disord., 2014, vol. 172, pp. 453–461. doi: 10.1016/j.jad.2014.10.004.

39. Kaufman K.M., Linghu B., Szustakowski J.D. et al. Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocyticlymphohistiocytosis. Arthritis Rheumatol., 2014, vol. 66, no. 12, pp. 3486–3495. doi: 10.1002/art.38793.

40. Iourov I.Y., Vorsanova S.G., Yurov Y.B. Molecular cytogenetics and cytogenomics of brain diseases. Curr. Genomics., 2008, vol. 9, no. 7, pp. 452–465. doi: 10.2174/138920208786241216.

41. Martin J., Cooper M., Hamshere M.L. et al. Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants. J. Am. Acad. Child. Adolesc. Psychiatry., 2014, vol. 53, no. 7, pp. 761–770. e26. doi: 10.1016/j.jaac.2014.03.004.

42. Zheng X., Demirci F.Y., Barmada M.M. et al. A Rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease. PLoS One, 2014, vol. 9, no. 11, pp. e111462. doi: 10.1371/journal.pone.0111462.

43. Hallstrand T.S., Fischer M.E., Wurfel M.M. et al. Genetic pleiotropy between asthma and obesity in a communitybased sample of twins. J. Allergy ClinImmunol., 2005, vol. 116, no. 6, pp. 1235–1241.

44. Catalб-Lуpez F., Suбrez-Pinilla M., Suбrez-Pinilla P. et al. Inverse and direct cancer comorbidity in people with central nervous system disorders: a meta-analysis of cancer incidence in 577,013 participants of 50 observational studies. Psychother. Psychosom., 2014, vol. 83, no. 2, pp. 89–105. doi: 10.1159/000356498.

45. Forйs-Martos J., Cervera-Vidal R., Chirivella E. et al. A genomic approach to study Down syndrome and cancer inverse comorbidity: untangling the chromosome 21. Front Physiol., 2015, vol. 6, pp. 10. doi: 10.3389/fphys.2015.00010.

46. Rzhetsky A., Wajngurt D., Park N., Zheng T. Probing genetic overlap among complex human phenotypes. Proc. Natl. Acad. Sci. USA, 2007, vol. 104, pp. 11694–11699.

47. Santiago J.A., Potashkin J.A. Integrative Network Analysis Unveils Convergent Molecular Pathways in Parkinson's Disease and Diabetes. PLoS One, 2013, vol. 8, no. 12, pp. e83940. doi: 10.1371/journal.pone.0083940.

48. Bragina E.Yu., Tiys E.S., Freidin M.B. et al. Insights into pathophysiology of dystropy through the analysis of gene networks: an example of bronchial asthma and tuberculosis. Immunogenetics, 2014, vol. 66, no. 7–8, pp. 457–465. doi: 10.1007/s00251-014-0786-1.

49. Glotov A.S., Tiys E.S., Vashukova E.S. et al. Molecular association of pathogenetic contributors to pre-eclampsia (pre-eclampsia associome). BMC Syst. Biol., 2015, vol. 9, suppl 2. S4. doi: 10.1186/1752-0509-9-S2-S4.


Review

For citations:


Bragina Ye.Yu., Freidin M.B. MOLECULAR GENETIC STUDIES OF COMORBIDITY. Bulletin of Siberian Medicine. 2015;14(6):94-102. (In Russ.) https://doi.org/10.20538/1682-0363-2015-6-94-102

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