Кандидатные SNP-маркеры ревматоидного полиартрита, которые могут достоверно изменять сродство ТАТА-связывающего белка к промоторам генов человека
https://doi.org/10.18699/VJ19.586
Аннотация
Ревматоидный полиартрит (РА) – аутоиммунное заболевание с наличием аутоантител (например, антитела к антигенам цитруллированных белков), и провоспалительных цитокинов, таких как TNF-α и IL-6, которые принимают участие в индукции хронического синовита, эрозии костной ткани с последующей деформацией. Иммунопатогенез базируется на механизмах полома иммунной толерантности к собственным антигенам, что характеризуется повышением активности Т-клеток-эффекторов, обуславливающих симптоматику РА. В то же время на фоне такой повышенной активности эффекторных лимфоцитов регистрируется снижение активности ряда регуляторных клеток, включая регуляторные Т-клетки (Трег) и клетки-супрессоры миелоидного происхождения. Имеются основания полагать, что именно изменение активности клеток-супрессоров является ведущим звеном в патогенезе развития РА. Поэтому говорят лишь о периодах ослабления (ремиссии) РА. Вследствие более мощной женской иммунной системы, по сравнению с мужской, риск развития РА у женщин втрое выше, он снижается при лактации и растет при беременности, а также после менопаузы пропорционально уровню половых гормонов. Считают, что риск развития РА на 50 % зависит от условий и образа жизни, тогда как оставшиеся 50 % – от генетической предрасположенности. Поэтому РА отвечает главной идее постгеномной предиктивно-превентивной персонализированной медицины: дать шанс тем, кто хотел бы снизить риск заболеваний, приведя образ своей жизни в соответствие с данными по своему расшифрованному геному. Это очень важно, поскольку врачи относят РА к наиболее частым причинам инвалидизации. С использованием ранее созданного нами Web-сервиса SNP_TATA_Z-tester (http://beehive.bionet.nsc.ru/cgi-bin/mgs/tatascan_fox/start.pl) исследовано 227 вариантов однонуклеотидного полиморфизма (SNP) промоторов генов человека. В итоге было предсказано 43 кандидатных SNP-маркера РА, которые способны изменять сродство ТАТА-связывающего белка (ТВР) к промоторам этих генов.
Ключевые слова
Об авторах
И. В. ЧадаеваРоссия
Новосибирск
Д. А. Рассказов
Россия
Новосибирск
Е. Б. Шарыпова
Россия
Новосибирск
И. А. Драчкова
Россия
Новосибирск
Е. А. Ощепкова
Россия
Новосибирск
Л. К. Савинкова
Россия
Новосибирск
П. М. Пономаренко
Соединённые Штаты Америки
Ла-Верн, Калифорния
М. П. Пономаренко
Россия
Новосибирск
Н. А. Колчанов
Россия
Новосибирск
В. А. Козлов
Россия
Новосибирск
Список литературы
1. Abrahamson E.M. Hyperinsulinism – a factor in rheumatoid arthritis. Am. J. Dig. Dis. 952;19(1):14.
2. AlShakfa F., Dulucq S., Brukner I., Milacic I., Ansari M., Beaulieu P., Moghrabi A., Laverdiere C., Sallan S.E., Silverman L.B., Neuberg D., Kutok J.L., Sinnett D., Krajinovic M. DNA variants in region for noncoding interfering transcript of dihydrofolate reductase gene and outcome in childhood acute lymphoblastic leukemia. Clin. Cancer Res. 2009;15:69316938. DOI 10.1158/10780432.CCR090641.
3. Amberger J.S., Bocchini C.A., Schiettecatte F., Scott A.F., Hamosh A. OMIM.org: Online mendelian inheritance in man (OMIM ® ), an online catalog of human genes and genetic disorders. Nucleic Acids Res. 2015; 43(Database issue):D789D798. DOI 10.1093/nar/gku1205.
4. Arkova O.V., Kuznetsov N.A., Fedorova O.S., Kolchanov N.A., Savinkova L.K. Realtime interaction between ТВР and the TATA box of the human triosephosphate isomerase gene promoter in the norm and pathology. Acta Naturae. 2014;6(2):3640.
5. Arkova O.V., Ponomarenko M.P., Rasskazov D.A., Drachkova I.A., Arshinova T.V., Ponomarenko P.M., Savinkova L.K., Kolchanov N.A. Obesityrelated known and candidate SNP markers can significantly change affinity of TATAbinding protein for human gene promoters. BMC Genomics. 2015;16(Suppl. 13):S5. DOI 10.1186/1471216416S13S5.
6. Arnaud E., Barbalat V., Nicaud V., Cambien F., Evans A., Morrison C., Arveiler D., Luc G., Ruidavets J.B., Emmerich J., Fiessinger J.N., Aiach M. Polymorphisms in the 5ʹ regulatory region of the tissue factor gene and the risk of myocardial infarction and venous thromboembolism: the ECTIM and PATHROS studies. Etude CasTemoins de l’Infarctus duMyocarde. Paris thrombosis case–control study. Arterioscler. Thromb. Vasc. Biol. 2000;20:892898. DOI 10.1161/01.atv.20.3.892.
7. Bennike T.B., Ellingsen T., Glerup H., Bonderup O.K., Carlsen T.G., Meyer M.K., Bogsted M., Christiansen G., Birkelund S., Andersen V., Stensballe A. Proteome analysis of rheumatoid arthritis gut mucosa. J. Proteome Res. 2017;16(1):346354. DOI 10.1021/acs.jproteome.6b00598.
8. Boldt A.B., Culpi L., Tsuneto L.T., de Souza I.R., Kun J.F., PetzlErler M.L. Diversity of the MBL2 gene in various Brazilian populations and the case of selection at the mannosebinding lectin locus. Hum. Immunol. 2006;67(9):722734. DOI 10.1016/j.humimm.2006.05.009.
9. Bucher P. Weight matrix descriptions of four eukaryotic RNA polymerase II promoter elements derived from 502 unrelated promoter sequences. J. Mol. Biol. 1990;212(4):563578. DOI 10.1016/00222836(90)902239.
10. Burgner D., Rockett K., Ackerman H., Hull J., Usen S., Pinder M., Kwiatkowski D.P. Haplotypic relationship between SNP and microsatellite markers at the NOS2A locus in two populations. Genes Immun. 2003;4(7):506514. DOI 10.1038/sj.gene.6364022.
11. Cao H., Lin J., Chen W., Xu G., Sun C. Baseline adiponectin and leptin levels in predicting an increased risk of disease activity in rheumatoid arthritis: A metaanalysis and systematic review. Autoimmunity. 2016;49(8):547553. DOI 10.1080/08916934.2016.1230847.
12. Cervera A., Planas A.M., Justicia C., Urra X., Jensenius J.C., Torres F., Lozano F., Chamorro A. Geneticallydefined deficiency of mannosebinding lectin is associated with protection after experimental stroke in mice and outcome in human stroke. PLoS One. 2010;5(2):e8433. DOI 10.1371/journal.pone.0008433.
13. Chadaeva I.V., Ponomarenko M.P., Rasskazov D.A., Sharypova E.B., Kashina E.V., Matveeva M.Yu., Arshinova T.V., Ponomarenko P.M., Arkova O.V., Bondar N.P., Savinkova L.K., Kolchanov N.A. Candidate SNP markers of aggressivenessrelated complications and comorbidities of genetic diseases are predicted by a significant change in the affinity of TATAbinding protein for human gene promoters. BMC Genomics. 2016;17(Suppl. 14):995. DOI 10.1186/s1286401633533.
14. Chadaeva I., Ponomarenko P., Rasskazov D., Sharypova E., Kashina E., Kleshchev M., Ponomarenko M., Naumenko V., Savinkova L., Kolchanov N., Osadchuk L., Osadchuk A. Natural selection equally supports the human tendencies in subordination and domination: a genomewide study with in silico confirmation and in vivo validation in mice. Front. Genet. 2019;10:73.
15. Chadaeva I.V., Ponomarenko P.M., Rasskazov D.A., Sharypova E.B., Kashina E.V., Zhechev D.A., Drachkova I.A., Arkova O.V., Savin kova L.K., Ponomarenko M.P., Kolchanov N.A., Osadchuk L.V., Osadchuk A.V. Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATAbinding protein for human gene promoters. BMC Genomics. 2018;19(Suppl. 3). DOI 10.1186/s1286401844783.
16. Chang H.H., Liu G.Y., Dwivedi N., Sun B., Okamoto Y., Kins low J.D., Deane K.D., Demoruelle M.K., Norris J.M., Thompson P.R., Sparks J.A., Rao D.A., Karlson E.W., Hung H.C., Holers V.M., Ho I.C. A molecular signature of preclinical rheumatoid arthritis triggered by dysregulated PTPN22. JCI Insight. 2016;1(17):e90045. DOI 10.1172/jci.insight.90045.
17. Clark I.A., Rockett K.A., Burgner D. Genes, nitric oxide and malaria in African children. Trends Parasitol. 2003;19(8):335337. DOI 10.1016/S14714922(03)001478.
18. Deplancke B., Alpern D., Gardeux V. The genetics of transcription factor DNA binding variation. Cell. 2016;166(3):538554. DOI 10.1016/j.cell.2016.07.01.
19. Drachkova I., Savinkova L., Arshinova T., Ponomarenko M., Peltek S., Kolchanov N. The mechanism by which TATAbox polymorphisms associated with human hereditary diseases influence interactions with the TATAbinding protein. Hum. Mutat. 2014;35(5):601608. DOI 10.1002/humu.22535.
20. Drobiecki A., Pasiarski M., Hus I., Sokolowska B., Watek M. Acquired hemophilia in the patient suffering from rheumatoid arthritis: case report. Blood Coagul. Fibrinolysis. 2013;24(8):874880. DOI 10.1097/mbc.0b013e3283646635.
21. Erlandsson M.C., Doria Medina R., Töyra Silfversward S., Bokarewa M.I. Smoking functions as a negative regulator of IGF1 and impairs adipokine network in patients with rheumatoid arthritis. Mediators Inflamm. 2016;2016:3082820. DOI 10.1155/2016/3082820.
22. Giakoumi X., Tsironi M., Floudas C., Polymeropoylos E., Papalambros E., Aessopos A. Rheumatoid arthritis in thalassemia intermedia: coincidence or association? Isr. Med. Assoc. J. 2005;7(10):667669.
23. Ginsburg G.S., Willard H.F. Genomic and personalized medicine: foundations and applications. Transl. Res. 2009;154(6):277287. DOI 10.1016/j.trsl.2009.09.005.
24. GonzalezMartinez J.A., Moddel G., Ying Z., Prayson R.A., Bingaman W.E., Najm I.M. Neuronal nitric oxide synthase expression in resected epileptic dysplastic neocortex. J Neurosurg. 2009;110(2): 343349. DOI 10.3171/2008.6.17608.
25. Gunbin K.V., Ponomarenko M.P., Suslov V.V., Gusev F., Fedonin G.G., Rogaev E.I. Evolution of brain active gene promoters in human lineage towards the increased plasticity of gene regulation. Mol. Neurobiol. 2018;55(3):18711904. DOI 10.1007/s1203501704274.
26. Haeussler M., Raney B.J., Hinrichs A.S., Clawson H., Zweig A.S., Karolchik D., Casper J., Speir M.L., Haussler D., Kent W.J. Navigating protected genomics data with UCSC genome browser in a box. Bioinformatics. 2015;31(5):764766. DOI 10.1093/bioinformatics/btu712.
27. Hahn S., Buratowski S., Sharp P.A., Guarente L. Yeast TATAbinding protein TFIID binds to TATA elements with both consensus and nonconsensus DNA sequences. Proc. Natl. Acad. Sci. USA. 1989; 86(15):57185722.
28. Haldane J.B.S. The cost of natural selection. J. Genet. 1957;55:511524.
29. Ho M.F., Weinshilboum R.M. Immune mediator pharmacogenomics: TCL1A SNPs and estrogendependent regulation of inflammation. J. Nat. Sci. 2017;3(8):e416.
30. Hunninghake G.M., Cho M.H., Tesfaigzi Y., SotoQuiros M.E., Avila L., LaskySu J., Stidley C., Melen E., Soderhall C., Hallberg J., Kull I., Kere J., Svartengren M., Pershagen G., Wickman M., Lange C., Demeo D.L., Hersh C.P., Klanderman B.J., Raby B.A., Sparrow D., Shapiro S.D., Silverman E.K., Litonjua A.A., Weiss S.T., Celedon J.C. MMP12, lung function, and COPD in highrisk populations. N. Engl. J. Med. 2009;361(27):25992608. DOI 10.1056/nejmoa0904006.
31. Jones O.Y., Spencer C.H., Bowyer S.L., Dent P.B., Gottlieb B.S., Rabinovich C.E. A multicenter casecontrol study on predictive fac tors distinguishing childhood leukemia from juvenile rheumatoid arthritis. Pediatrics. 2006;117(5):e840e844. DOI 10.1542/peds.20051515.
32. Karas H., Knuuppel R., Schulz W., Sklenar H., Wingender E. Combining structural analysis of DNA with search routines for the detection of transcription regulatory elements. Comput. Appl. Biosci. 1996; 12(5):441446.
33. Karlson E.W., Mandl L.A., Hankinson S.E., Grodstein F. Do breastfeeding and other reproductive factors influence future risk of rheumatoid arthritis? Results from the Nurses’ Health Study. Arthritis Rheum. 2004;50(11):34583467. DOI 10.1002/art.20621.
34. Kavlie A., Hiltunen L., Rasi V., Prydz H. Two novel mutations in the human coagulation factor VII promoter. Thromb. Haemost. 2003; 90(2):194205. DOI 10.1160/th02090050.
35. Kimura M. Evolutionary rate at the molecular level. Nature. 1968; 217(5129):624626. DOI 10.1038/217624a0.
36. Klareskog L., Padyukov L., Lorentzen J., Alfredsson L. Mechanisms of disease: genetic susceptibility and environmental triggers in the development of rheumatoid arthritis. Nat. Clin. Pract. Rheumatol. 2006;2(8):425433. DOI 10.1038/ncprheum0249.
37. Kokkonen H., Stenlund H., RantapaaDahlqvist S. Cardiovascular risk factors predate the onset of symptoms of rheumatoid arthritis: a nested casecontrol study. Arthritis Res. Ther. 2017;19(1):148. DOI 10.1186/s1307501713518.
38. Köller M., NöbauerHuhmann I. Early arthritis: action desired – treatment required. Wien Med. Wochenschr. 2009;159(34):6669. DOI 10.1007/s1035400906530.
39. Krasselt M., Baerwald C. Sex, symptom severity, and quality of life in rheumatology. Clin. Rev. Allergy Immunol. 2017. DOI 10.1007/s1201601786316.
40. Landrum M.J., Lee J.M., Riley G.R., Jang W., Rubinstein W.S., Church D.M., Maglott D.R. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014;42(Database issue):D980D985. DOI 10.1093/nar/gkt1113.
41. Lim D.S., Bae Y.S. Metastatic lymph node 51 and fibroblastlike syno viocyte hyperproliferation in rheumatoid arthritis pathogenesis. Rheumatol. Int. 2011;31(7):843847. DOI 10.1007/s002960111818x.
42. Liu M., Sun H., Wang X., Koike T., Mishima H., Ikeda K., Watanabe T., Ochiai N., Fan J. Association of increased expression of macrophage elastase (matrix metalloproteinase 12) with rheumatoid arthritis. Arthritis Rheum. 2004;50(10):31123117. DOI 10.1002/art.20567.
43. Lu Z. PubMed and beyond: a survey of web tools for searching biome dical literature. Database (Oxford). 2011. 2011:baq036. DOI 10.1093/database/baq036. Print 2011.
44. Lyberg T., Prydz H., Baklien K., Hoyeraal H.M. Effect of immune complexcontaining sera from patients with rheumatic diseases on thromboplastin activity of monocytes. Thromb. Res. 1982;25(3): 193202. DOI 10.1016/00493848(82)902389.
45. Malm K., Bremander A., Arvidsson B., Andersson M.L., Bergman S., Larsson I. The influence of lifestyle habits on quality of life in patients with established rheumatoid arthritisA constant balancing between ideality and reality. Int. J. Qual. Stud. Health Wellbeing. 2016;11:30534. DOI 10.3402/qhw.v11.30534.
46. Manetti M., IbbaManneschi L., Fatini C., Guiducci S., Cuomo G., Bonino C., Bazzichi L., Liakouli V., Giacomelli R., Abbate R., Bombardieri S., Montecucco C., Valentini G., MatucciCerinic M. Association of a functional polymorphism in the matrix metalloproteinase12 promoter region with systemic sclerosis in an Italian population. J. Rheumatol. 2010;37(9):18521857. DOI 10.3899/jrheum.100237.
47. Martianov I., Viville S., Davidson I. RNA polymerase II transcription in murine cells lacking the TATA binding protein. Science. 2002;298(5595):10361039. DOI 10.1126/science.1076327.
48. Martiney J.A., Cerami A., Slater A.F. Inhibition of hemozoin formation in Plasmodium falciparum trophozoite extracts by heme analogs: possible implication in the resistance to malaria conferred by the betathalassemia trait. Mol. Med. 1996;2(2):236246.
49. Matsunaga A., Sasaki J., Han H., Huang W., Kugi M., Koga T., Ichiki S., Shinkawa T., Arakawa K. Compound heterozygosity for an apolipoprotein A1 gene promoter mutation and a structural nonsense mutation with apolipoprotein A1 deficiency. Arterioscler. Thromb. Vasc. Biol. 1999;19(2):348355. DOI 10.1161/01.atv.19.2.348.
50. McCarty M.F. Vegan proteins may reduce risk of cancer, obesity, and cardiovascular disease by promoting increased glucagon activity. Med. Hypotheses. 1999;53(6):459485. DOI 10.1054/mehy.1999.0784.
51. Michon P., Woolley I., Wood E.M., Kastens W., Zimmerman P.A., Adams J.H. Duffynull promoter heterozygosity reduces DARC expression and abrogates adhesion of the P. vivax ligand required for bloodstage infection. FEBS Lett. 2001;495(12):111114. DOI 10.1016/S00145793(01)023705.
52. Mogno I., Vallania F., Mitra R.D., Cohen B.A. TATA is a modular component of synthetic promoters. Genome Res. 2010;20(10): 13911397. DOI 10.1101/gr.106732.110.
53. Muller F., Lakatos L., Dantonel J., Strahle U., Tora L. TBP is not universally required for zygotic RNA polymerase II transcription in zebrafish. Curr. Biol. 2001;11(4):282287. DOI 10.1016/S09609822(01)000768.
54. Nair N., Wilson A.G., Barton A. DNA methylation as a marker of response in rheumatoid arthritis. Pharmacogenomics. 2017;18(14): 13231332. DOI 10.2217/pgs20160195.
55. Nalls M.A., Wilson J.G., Patterson N.J., Tandon A., Zmuda J.M., Huntsman S., Garcia M., Hu D., Li R., Beamer B.A., Patel K.V., Akylbekova E.L., Files J.C., Hardy C.L., Buxbaum S.G., Taylor H.A., Reich D., Harris T.B., Ziv E. Admixture mapping of white cell count: genetic locus responsible for lower white blood cell count in the Health ABC and Jackson Heart studies. Am. J. Hum. Genet. 2008;82(1):8187. DOI 10.1016/j.ajhg.2007.09.003.
56. Niemann S., Broom W.J., Brown R.H. Jr. Analysis of a genetic defect in the TATA box of the SOD1 gene in a patient with familial amyotrophic lateral sclerosis. Muscle Nerve. 2007;36(5):704707. DOI 10.1002/mus.20855.
57. Nisihara R., Skare T., Capeletto C.M., Moreira L., Goeldner I., MessiasReason I., Utiyama S.R. Mannose binding lectin deficiency and susceptibility to infections in patients with rheumatoid arthritis. Rheumatology (Oxford). 2016;55(5):951952. DOI 10.1093/rheumatology/kev413.
58. Ohtsuka M., Konno F., Honda H., Oikawa T., Ishikawa M., Iwase N., Isomae K., Ishii F., Hemmi H., Sato S. PPA250 [3(2,4difluorophenyl)6[2[4(1Himidazol1ylmethyl) phenoxy]ethoxy]2phenylpyridine], a novel orally effective inhibitor of the dimerization of inducible nitricoxide synthase, exhibits an antiinflammatory effect in animal models of chronic arthritis. J. Pharmacol. Exp. Ther. 2002; 303(1):5257. DOI 10.1124/jpet.102.035857.
59. Okada Y., Wu D., Trynka G., Raj T., Terao C., Ikari K., Kochi Y., Ohmura K., Suzuki A., Yoshida S., Graham R.R., Manoharan A., Ortmann W., Bhangale T., Denny J.C., Carroll R.J., Eyler A.E., Greenberg J.D., Kremer J.M., Pappas D.A., Jiang L., Yin J., Ye L., Su D.F., Yang J., Xie G., Keystone E., Westra H.J., Esko T., Metspalu A., Zhou X., Gupta N., Mirel D., Stahl E.A., Diogo D., Cui J., Liao K., Guo M.H., Myouzen K., Kawaguchi T., Coenen M.J., van Riel P.L., van de Laar M.A., Guchelaar H.J., Huizinga T.W., Dieude P., Mariette X., Bridges S.L. Jr., Zhernakova A., Toes R.E., Tak P.P., MiceliRichard C., Bang S.Y., Lee H.S., Martin J., GonzalezGay M.A., RodriguezRodriguez L., RantapaaDahlqvist S., Arlestig L., Choi H.K., Kamatani Y., Galan P., Lathrop M., RACI consortium, GARNET consortium, Eyre S., Bowes J., Barton A., de Vries N., Moreland L.W., Criswell L.A., Karlson E.W., Taniguchi A., Yamada R., Kubo M., Liu J.S., Bae S.C., Worthington J., Padyukov L., Klareskog L., Gregersen P.K., Raychaudhuri S., Stranger B.E., De Jager P.L., Franke L., Visscher P.M., Brown M.A., Yamanaka H., Mimori T., Takahashi A., Xu H., Behrens T.W., Siminovitch K.A., Momohara S., Matsuda F., Yamamoto K., Plenge R.M. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature. 2014;506(7488):376381. DOI 10.1038/nature12873.
60. Olkkonen J., Kouri V.P., Hynninen J., Konttinen Y.T., Mandelin J. Differentially expressed in chondrocytes 2 (DEC2) increases the expression of IL1β and is abundantly present in synovial membrane in rheumatoid arthritis. PLoS One. 2015;10(12):e0145279. DOI 10.1371/journal.pone.0145279.
61. Ponomarenko M., Arkova O., Rasskazov D., Ponomarenko P., Savinkova L., Kolchanov N. Candidate SNP markers of genderbiased autoimmune complications of monogenic diseases are predicted by a significant change in the affinity of TATAbinding protein for human gene promoters. Front. Immunol. 2016;7:130. DOI 10.3389/fimmu.2016.00130.
62. Ponomarenko M., Mironova V., Gunbin K., Savinkova L. Hogness box. In: Maloy S., Hughes K., (Eds.) Brenner’s Encyclopedia of Genetics. Vol. 3. San Diego: Acad. Press; Elsevier Inc., 2013;491494. DOI 10.1016/B9780123749840.007208.
63. Ponomarenko M., Rasskazov D., Arkova O., Ponomarenko P., Suslov V., Savinkova L., Kolchanov N. How to use SNP_TATA_Comparator to find a significant change in gene expression caused by the regulatory SNP of this gene’s promoter via a change in affinity of the TATAbinding protein for this promoter. BioMed Res. Int. 2015;2015:359835. DOI 10.1155/2015/359835.
64. Ponomarenko P., Chadaeva I., Rasskazov D.A., Sharypova E., Kashina E.V., Drachkova I., Zhechev D., Ponomarenko M.P., Savinkova L.K., Kolchanov N. Candidate SNP markers of familial and sporadic Alzheimer’s diseases are predicted by a significant change in the affinity of TATAbinding protein for human gene promoters. Front. Aging Neurosci. 2017;9:231. DOI 10.3389/fnagi.2017.00231.
65. Ponomarenko P.M., Ponomarenko M.P., Drachkova I.A., Lysova M.V., Arshinova T.V., Savinkova L.K., Kolchanov N.A. Prediction of the affinity of the TATAbinding protein to TATA boxes with single nucleotide polymorphisms. Mol. Biol. (Mosk.). 2009;43(3):472479. DOI 10.1134/S0026893309030157.
66. Ponomarenko P., Rasskazov D., Suslov V., Sharypova E., Savinkova L., Podkolodnaya O., Podkolodny N., Tverdokhleb N., Chadaeva I., Ponomarenko M., Kolchanov N. Candidate SNP markers of chronopathologies are predicted by a significant change in the affinity of TATAbinding protein for human gene promoters. BioMed Res. Int. 2016;2016:8642703. DOI 10.1155/2016/8642703.
67. Ponomarenko P.M., Savinkova L.K., Drachkova I.A., Lysova M.V., Arshinova T.V., Ponomarenko M.P., Kolchanov N.A. A stepbystep model of TBP/TATA box binding allows predicting human hereditary diseases by single nucleotide polymorphism. Dokl. Biochem. Biophys. 2008;419:8892. DOI 10.1134/S1607672908020117.
68. Ponomarenko P.M., Suslov V.V., Savinkova L.K., Ponomarenko M.P., Kolchanov N.A. A precise equilibrium equation for four steps of binding between TBP and TATAbox allows for the prediction of phenotypical expression upon mutation. Biophysics. 2010;55(3): 358369. DOI 10.1134/S0006350910030036.
69. Richardson M.L., Helms C.A., Vogler J.B. 3rd, Genant H.K. Skeletal changes in neuromuscular disorders mimicking juvenile rheumatoid arthritis and hemophilia. AJR. Am. J. Roentgenol. 1984;143(4):893897. DOI 10.2214/ajr.143.4.893.
70. Rutten M.J., Dijk F., SavciHeijink C.D., Buist M.R., Kenter G.G., van de Vijver M.J., Jordanova E.S. HLAG expression is an independent predictor for improved survival in high grade ovarian carcinomas. J. Immunol. Res. 2014;2014:274584. DOI 10.1155/2014/274584.
71. Sakkas L.I., Daoussis D., Liossis S.N., Bogdanos D.P. The infectious basis of ACPApositive rheumatoid arthritis. Front. Microbiol. 2017; 8:1853. DOI 10.3389/fmicb.2017.01853.
72. Sarkander J., Hojyo S., Tokoyoda K. Vaccination to gain humoral immune memory. Clin. Transl. Immunol. 2016;5(12):e120. DOI 10.1038/cti.2016.81.
73. Sato K., Takahashi N., Kato T., Matsuda Y., Yokoji M., Yamada M., Nakajima T., Kondo N., Endo N., Yamamoto R., Noiri Y., Ohno H., Yamazaki K. Aggravation of collageninduced arthritis by orally administered Porphyromonas gingivalis through modulation of the gut microbiota and gut immune system. Sci. Rep. 2017;317(1):6955. DOI 10.1038/s41598017071967.
74. Savinkova L., Drachkova I., Arshinova T., Ponomarenko P., Ponomarenko M., Kolchanov N. An experimental verification of the predicted effects of promoter TATAbox polymorphisms associated with human diseases on interactions between the TATA boxes and TATAbinding protein. PLoS One. 2013;8(2):e54626. DOI 10.1371/journal.pone.0054626.
75. Scott D.L., Wolfe F., Huizinga T.W. Rheumatoid arthritis. Lancet. 2010; 376(9746):10941108. DOI 10.1016/S01406736(10)608264.
76. Sherry S.T., Ward M.H., Kholodov M., Baker J., Phan L., Smigielski E.M., Sirotkin K. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29(1):308311. DOI 10.1093/nar/29.1.308.
77. Smolen J.S., Aletaha D. Rheumatoid arthritis therapy reappraisal: strategies, opportunities and challenges. Nat. Rev. Rheumatol. 2015; 11(5):276289. DOI 10.1038/nrrheum.2015.8.
78. Smolen J.S., Aletaha D., McInnes I.B. Rheumatoid arthritis. Lancet. 2016;388(10055):20232038. DOI 10.1016/S01406736(16)301738.
79. Sood S., Brownlie R.J., Garcia C., Cowan G., Salmond R.J., Sakaguchi S., Zamoyska R. Loss of the protein tyrosine phosphatase PTPN22 reduces mannaninduced autoimmune arthritis in SKG mice. J. Immunol. 2016;197(2):429440. DOI 10.4049/jimmunol.1502656.
80. Starodubtseva N.L., Sobolev V.V., Soboleva A.G., Nikolaev A.A., Bruskin S.A. Genes expression of metalloproteinases (MMP1, MMP2, MMP9, and MMP12) associated with psoriasis. Russ. J. Genet. 2011;47(9):11171123. DOI 10.1134/S102279541109016X.
81. Staron A., Mąkosa G., KoterMichalak M. Oxidative stress in erythrocytes from patients with rheumatoid arthritis. Rheumatol. Int. 2012; 32(2):331334. DOI 10.1007/s0029601016112.
82. Suslov V.V., Ponomarenko P.M., Ponomarenko M.P., Drachkova I.A., Arshinova T.V., Savinkova L.K., Kolchanov N.A. TATA box polymorphisms in genes of commercial and laboratory animals and plants associated with selectively valuable traits. Russ. J. Genet. 2010а;46(4):394403. DOI 10.1134/S1022795410040022.
83. Suslov V.V., Ponomarenko P.M., Efimov V.M., Savinkova L.K., Ponomarenko M.P., Kolchanov N.A. SNPs in the HIV1 TATA box and the AIDS pandemic. J. Bioinform. Comput. Biol. 2010b;8(3):607625. DOI 10.1142/S0219720010004677.
84. Sziller I., Babula O., Hupuczi P., Nagy B., Rigo B., Szabo G., Papp Z., Linhares I.M., Witkin S.S. Mannosebinding lectin (MBL) codon 54 gene polymorphism protects against development of preeclampsia, HELLP syndrome and preeclampsiaassociated intrauterine growth restriction. Mol. Hum. Reprod. 2007;13(4):281285. DOI 10.1093/molehr/gam003.
85. Telenti A., Pierce L.C., Biggs W.H., di Iulio J., Wong E.H., Fabani M.M., Kirkness E.F., Moustafa A., Shah N., Xie C., Brewerton S.C., Bulsara N., Garner C., Metzker G., Sandoval E., Perkins B.A., Och F.J., Turpaz Y., Venter J.C. Deep sequencing of 10,000 human genomes. Proc. Natl. Acad. Sci. USA. 2016;113(42):1190111906. DOI 10.1073/pnas.1613365113.
86. Troelsen L.N., Garred P., Christiansen B., TorpPedersen C., Christensen I.J., Narvestad E., Jacobsen S. Double role of mannosebinding lectin in relation to carotid intimamedia thickness in patients with rheumatoid arthritis. Mol. Immunol. 2010;47(4):713718. DOI 10.1016/j.molimm.2009.10.021.
87. Trovato G.M. Sustainable medical research by effective and comprehensive medical skills: overcoming the frontiers by predictive, preventive and personalized medicine. EPMA J. 2014;5(1):14. DOI 10.1186/18785085514.
88. Varzari A., Deyneko I.V., Tudor E., Turcan S. Polymorphisms of glutathione Stransferase and methylenetetrahydrofolate reductase genes in Moldavian patients with ulcerative colitis: Genotypephenotype correlation. Meta Gene. 2016;7:7682. DOI 10.1016/j.mgene.2015.12.002.
89. VivesCorrons J.L., RubinsonSkala H., Mateo M., Estella J., Feliu E., Dreyfus J.C. Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease: familial and biochemical studies of a case found in Spain. Hum. Genet. 1978;42(2):171180.
90. Waardenberg A.J., Basset S.D., Bouveret R., Harvey R.P. CompGO: an R package for comparing and visualizing Gene Ontology enrichment differences between DNA binding experiments. BMC Bioinformatics. 2015;16:275. DOI 10.1186/s1285901507012.
91. Watanabe M., Zingg B.C., Mohrenweiser H.W. Molecular analysis of a series of alleles in humans with reduced activity at the triosephosphate isomerase locus. Am. J. Hum. Genet. 1996;58(2):308316.
92. Wu J., Wu M., Li L., Liu Z., Zeng W., Jiang R. dbWGFP: a database and web server of human wholegenome single nucleotide variants and their functional predictions. Database (Oxford). 2016;2016:baw024. DOI 10.1093/database/baw024.
93. Zerbino D.R., Wilder S.P., Johnson N., Juettemann T., Flicek P.R. The ensembl regulatory build. Genome Biol. 2015;16:56. DOI 10.1186/s1305901506215.
94. Zhang J.Q., Xia M., Shen Y.Q., Xu L.H., Yang J., Miao F.Q., Xie W. Research on the mechanisms and the function of abnormal HLA class I expression in hepatocellular carcinoma cell lines. Tissue Antigens. 2007;69(5):415. DOI 10.1111/j.13990039.2007.00836.x.
95. Zhang Y., Proenca R., Maffei M., Barone M., Leopold L., Friedman J.M. Positional cloning of the mouse obese gene and its human homologue. Nature. 1994;372(6505):425432. DOI 10.1038/372425a0.
96. ZuberJerger I., Kullmann F., Schneidewind A., Scholmerich J. Diagnosis and treatment of a patient with gallstone ileus. Nat. Clin. Pract. Gastroenterol. Hepatol. 2005;2(7):331335. DOI 10.1038/ncpgasthep0211.