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Медицинская генетика

Расширенный поиск

Генетика мигрени

https://doi.org/10.1234/XXXX-XXXX-2016-1-3-13

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Аннотация

В настоящее время мигрень занимает 9-е место в списке ведущих причин нетрудоспособности населения. В России распространённость мигрени почти в два раза превышает мировые показатели и наносит немалый ущерб экономике государства. Несмотря на почти вековую историю изучения мигрени, наука до сих пор не может объяснить многие случаи возникновения приступов. Это вызывает затруднения и при постановке диагноза, и при лечении - терапия пациентов с мигренью недостаточно эффективна. Одним из направлений исследований сегодня является поиск биомаркёров мигрени, подтверждающих диагноз. В данном обзоре мы попытались обобщить имеющиеся на сегодняшний день результаты работ, направленных на поиск генетических маркёров мигрени.

Об авторах

Н. С. Кондратьева
ФГБОУ ВПО «Московский государственный университет им. М.В.Ломоносова»
Россия


А. А. Анучина
ФГБОУ ВПО «Московский государственный университет им. М.В.Ломоносова»
Россия


З. Г. Кокаева
ФГБОУ ВПО «Московский государственный университет им. М.В.Ломоносова»
Россия


Е. А. Наумова
ФГБОУ ВПО «Московский государственный университет им. М.В.Ломоносова»
Россия


Ю. Э. Азимова
Университетская клиника головной боли; ФГБУ «Российский научный центр медицинской реабилитации и курортологии»
Россия


А. В. Сергеев
Университетская клиника головной боли; ГБОУ ВПО "Первый Московский государственный медицинский университет им. И.М. Сеченова"
Россия


К. В. Скоробогатых
Университетская клиника головной боли
Россия


Г. Р. Табеева
Университетская клиника головной боли; ГБОУ ВПО "Первый Московский государственный медицинский университет им. И.М. Сеченова"
Россия


Е. А. Климов
ФГБОУ ВПО «Московский государственный университет им. М.В.Ломоносова»; ООО «Университетская диагностическая лаборатория»
Россия


Список литературы

1. Stovner L, Hagen K, Jensen R. et al. The global burden of headache: a documentation of headache prevalence and disability worldwide. Cephalalgia. 2007;27(3):193-210.

2. Steiner TJ, Stovner LJ, Birbeck GL. Migraine: the seventh disabler. J Headache Pain. 2013. Jan;10:14-1.

3. Ayzenberg I, Katsarava Z, Sborowski A. et al. Headache-attributed burden and its impact on productivity and quality of life in Russia: structured healthcare for headache is urgently needed. Eur Neurol J. 2014;21(5):758-765.

4. Осипова ВВ. Современные подходы к диагностике и лечению мигрени. Вестник семейной медицины. 2010;2:19-24.

5. Katsarava Z, Limmroth V. Is a combination of tramadol and acetaminophen effective for the treatment of acute migraine pain? Nat Clin Pract Neurol. 2006;2(7):360-361.

6. Loder E. Migraine with aura and increased risk of ischaemic stroke. BMJ. 2009;27(339):b4380.

7. Азимова ЮЭ, Табеева ГР, Климов ЕА. Генетика мигрени. Анналы клинической и экспериментальной неврологии. 2008;2(1):41-46.

8. Ulrich V, Gervil M, Kyvik KO. et al. Evidence of a genetic factor in migraine with aura: a population-based Danish twin study. Ann Neurol. 1999;45:242-246.

9. Gervil M, Ulrich V, Kyvik KO. et al. Migraine without aura: a population based twin study. Ann Neurol. 1999;46:606-611.

10. Mulder EJ, Van Baal C, Gaist D. et al. Genetic and environmental in Xuences on migraine: a twin study across six countries. Twin Res. 2003;6:422-431.

11. Ziegler DK, Hur YM, Bouchard TJ Jr. et al. Migraine in twins raised together and apart. Headache. 1998;38:417-422.

12. Svensson DA, Larsson B, Waldenlind E, Pedersen NL. Shared rearing environment in migraine: results from twins reared apart and twins reared together. Headache. 2003;43:235-244.

13. Piterobon D and Striessing J. Neurobiology of migraine. Nat Rev Neurosci. 2003;4(5):386-398.

14. de Vries B, Freilinger T, Vanmolkot KR. et al. Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine. Neurology. 2007;69:2170-2176.

15. de Vries B, Haan J, Frants RR. et al. Genetic Biomarkers for Migraine. Headache. 2006;46(7):1059-1068.

16. Lee H, Jen JC, Cha YH. et al. Phenotypic and Genetic Analysis of a Large Family With Migraine-Associated Vertigo. Headache. 2008;48(10):1460-1467.

17. Chabriat H, Vahedi K, Iba-Zizen MT. et al. Clinical spectrum of CADASIL: a study of 7 families. Lancet. 1995;346:934-939.

18. Joutel A, Corpechot C, Ducros A. et al. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. Nature. 1996;383:707-710.

19. Iso T, Hamamori Y, Kedes L. Notch signaling in vascular development. Arterioscler Thromb Vasc Biol. 2003;23:543-553.

20. Alva JA, Iruela-Arispe ML. Notch signaling in vascular morphogenesis. Curr Opin Hematol. 2004;11:278-283.

21. Ishiko A, Shimizu A, Nagata E. et al. Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL. Acta Neuropathol. 2006;112:333-339.

22. Kaufmann P, Engelstad K, Wei Y. et al. Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology. 2011;77:1965-1971.

23. Finsterer J. Inherited mitochondrial disorders. Adv Exp Med Biol. 2012;942:187-213.

24. Richards A, van den Maagdenberg AM, Jen JC. et al. C-terminal truncations in human 3’-5’ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007;39:1068-1070.

25. Terwindt GM, Haan J, Ophoff RA. et al. Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud’s phenomenon. Brain. 1998;121:303-316.

26. Ophoff RA, DeYoung J, Service SK. et al. Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. Am J Hum Genet. 2001;69:447-453.

27. Persico AM, Verdecchia M, Pinzone V. et al. Migraine genetics: current findings and future lines of research. Neurogenetics. 2015;16(2):77-95.

28. Stam AH, Haan J, van den Maagdenberg AM. et al. Migraine and genetic and acquired vasculopathies. Cephalalgia. 2009;29:1006-1017.

29. Xu Y, Padiath QS, Shapiro RE. et al. Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. Nature. 2005;434:640-644.

30. Brennan KC, Bates EA, Shapiro RE. et al. Casein kinase id mutations in familial migraine and advanced sleep phase. Sci Transl Med. 2013;5:1-11.

31. Lillis AP, Van Duyn LB, Murphy-Ullrich JE. et al. LDL receptor-related protein 1: unique tissue-specifi c functions revealed by selective gene knockout studies. Physiol Rev. 2008;88:887-918.

32. Gould DB, Phalan FC, Breedved GJ. et al. Mutations in COL4A1 cause perinatal cerebral hemorrhage and porencephaly. Science. 2005;308:1167-1171.

33. Breedved G, de Coo IF, Lequin MH. et al. Novel mutations in three families confirms a major role of COL4A1 in hereditary porencephaly. J Med Genet. 2006;43:490-495.

34. Van Der Knaap MS, Smit LM, Barkhof F. et al. Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. Ann Neurol. 2006;59:504-511.

35. Lanfranconi S, Markus HS. COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke. 2010;41:e513-e518.

36. Vahedi K, Massin P, Guichard JP. et al. Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy. Neurology. 2003;60:57-63.

37. Russell MB, Ducros A. Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management. Lancet Neurol. 2011;10:457-470.

38. Ophoff RA, Terwindt GM, Vergouwe MN. et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996;87:543-552.

39. De Fusco M, Marconi R, Silvestri L. et al. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet. 2003;33:192-196.

40. Dichgans M, Freilinger T, Eckstein G. et al. Mutations in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet. 2005;336:371-377.

41. Lea RA, Shepherd AG, Curtain RP. et al. A typical migraine susceptibility region localizes to chromosome 1q31. Neurogenetics. 2002;4(1):17-22.

42. Freilinger T, Koch J, Dichgans M. et al. A novel mutation in SLC1A3 associated with pure hemiplegic migraine. J Headache Pain. 2010;11:90.

43. de Vries B, Mamsa H, Stam AH. et al. Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Arch Neurol. 2009;66(1):97-101.

44. Meneret A, Gaudebout C, Riant F. et al. PRRT2 mutations and paroxysmal disorders. Eur J Neurol. 2013;20(6):872-878.

45. Maher BH, Griffiths LR. Identification of molecular genetic factors that influence migraine. Mol Genet Genomics. 2011;285:433-446.

46. Corominas R, Ribases M, Camina M. et al. Two-stage case control association study of dopamine-related genes and migraine. BMC Med Genet. 2009;10:95.

47. Corominas R, Sobrido MJ, Ribases M. et al. Association study of the serotoninergic system in migraine in the Spanish population. Am J Med Genet B Neuropsychiatr Genet. 2010;153:177-184.

48. Ishii M, Shimizu S, Sakairi Y. et al. MAOA, MTHFR, and TNF-b genes polymorphisms and personality traits in the pathogenesis of migraine. Mol Cell Biochem. 2012;363:357-366.

49. Bayerer B, Engelbergs J, Savidou I. et al. Single nucleotide polymorphisms of the serotonin transporter gene in migraine - an association study. Headache. 2010;50:319-322.

50. Fernandez F, Colson N, Quinlan S. et al. Association between migraine and a functional polymorphism at the dopamine beta-hydroxylase locus. Neurogenetics. 2009;10(3):199-208.

51. Todt U, Netzer C, Toliat M. et al. New genetic evidence for involvement of the dopamine system in migraine with aura. Hum Genet. 2009;125(3):265-279.

52. Mochi M, Cevoli S, Cortelli P. et al. A genetic association study of migraine with dopamine receptor 4, dopamine transporter and dopamine-beta-hydroxylase genes. Neurol Sci. 2003;23:301-305.

53. Formicola D, Aloia A, Sampaolo S. et al. Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility. BMC Med Genet. 2010;25:103.

54. Azimova J, Kondratieva N, Sergeev A. et al. The Role of BDNF Gene Polymorphism in Formation of Clinical Characteristics of Migraine. J Neurol Stroke. 2016;4(2): 00123.

55. Lafreniere RG, Rouleau GA. Identification of novel genes involved in migraine. Headache. 2012;52:107-110.

56. MacClellan LR, Howard TD, Cole JW. et al. Relation of candidate genes that encode for endothelial function to migraine and stroke: the Stroke Prevention in Young Women study. Stroke. 2009;40(10):e550-e557.

57. Pizza V, Bisogno A, Lamaida E. et al. Migraine and coronary artery disease:an open study on the genetic polymorphism of the 5, 10 methylenetetrahydrofolate (MTHFR) and angiotensin I-converting enzyme (ACE) genes. Cent Nerv Syst Agents Med Chem. 2010;10:91-96.

58. Colson NJ, Lea RA, Quinlan S. et al. The role of vascular and hormonal genes in migraine susceptibility. Mol Genet Metab. 2006;88:107-113.

59. Paterna S, Di Pasquale P, Cottone C. et al. Migraine without aura and ACE-gene deletion polymorphism: is there a correlation? Preliminary findings. Cardiovasc Drugs Ther. 1997;11:603-604.

60. Kowa H, Fusayasu E, Ijiri T. et al. Association of the insertion/deletion polymorphism of the angiotensin I-converting enzyme gene in patients of migraine with aura. Neurosci Lett. 2005;374(2):129-131.

61. Joshi G, Pradhan S, Mittal B. Role of the ACE ID and MTHFR C677T polymorphisms in genetic susceptibility of migraine in a north Indian population. J Neurol Sci. 2009;277:133-137.

62. Kowa H, Yasui K, Takeshima T. et al. The homozygous C677T mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for migraine. Am J Med Genet. 2000;96(6):762-764.

63. Oterino A, Valle N, Bravo Y. et al. MTHFR T677 homozygosis influences the presence of aura in migraineurs. Cephalalgia. 2004;24(6):491-494.

64. Lea RA, Ovcaric M, Sundholm J. et al. Genetic variants of angiotensin converting enzyme and methylenetetrahydrofolate reductase may act in combination to increase migraine susceptibility. Brain Res Mol Brain Res. 2005;136:112-117.

65. Samaan Z, Gaysina D, Cohen-Woods S. et al. Farmer A. Methylenetetrahydrofolate reductase gene variant (MTHFR C677T) and migraine: a case control study and meta-analysis. BMC Neurol. 2011;11:66.

66. An XK, Lu CX, Ma QL. et al. Association of MTHFR C677T polymorphism with susceptibility to migraine in the Chinese population. Neurosci Lett. 2013;549:78-81.

67. Bahadir A, Eroz R, Dikici S. Investigation of MTHFR C677T gene polymorphism, biochemical and clinical parameters in Turkish migraine patients: association with allodynia and fatigue. Cell Mol Neurobiol. 2013;33(8):1055-1063.

68. Azimova J, Sergeev A, Korobeynikova L. et al. Effects of MTHFR gene polymorphism on the clinical and electrophysiological characteristics of migraine. BMC Neurology. 2013:13-103.

69. Liu R, Geng P, Ma M. et al. MTHFR C677T polymorphism and migraine risk: a meta-analysis. J Neurol Sci. 2014;336:68-73.

70. Rubino E, Ferrero M, Rainero I. et al. Association of the C677T polymorphism in the MTHFR gene with migraine: a meta-analysis. Cephalalgia. 2009;29(8):818-825.

71. Schurks M, Rist PM, Kurth T. MTHFR 677C>T and ACE D/I polymorphisms in migraine: a systematic review and meta-analysis. Headache. 2010;50(4):588-599.

72. Scher AI, Eiriksdottir G, Garcia M. et al. Lack of association between the MTHFR C677T variant and migraine with aura in an older population: could selective survival play a role?. Cephalalgia. 2013;33:308-315.

73. Federico A, Bianchi S, Dotti MT. The spectrum of mutations for CADASIL diagnosis. Neurol Sci. 2005;26:117-124.

74. Ungaro C, Mazzei R, Conforti FL. et al. CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene. J Neurosci Res. 2009;87:1162-1167.

75. Mosca L, Marazzi R, Ciccone A. et al. NOTCH3 gene mutations in subjects clinically suspected of CADASIL. J Neurol Sci. 2011;307:144-148.

76. Schwaag S, Evers S, Schirmacher A. et al. Genetic variants of the NOTCH3 gene in migraine-a mutation analysis and association study. Cephalalgia. 2006;26:158-161.

77. Menon S, Cox HC, Kuwahata M. et al. Association of a Notch 3 gene polymorphism with migraine susceptibility. Cephalalgia. 2010;31:264-270.

78. Tikka-Klemola P, Kaunisto MA, Hamalainen E. et al. Genetic association study of endothelin-1 and its receptors EDNRA and EDNRB in migraine with aura. Cephalalgia. 2009;29:1224-1231.

79. Joshi G, Pradhan S, Mittal B. Vascular gene polymorphisms (EDNRA -231 G>A and APOE HhaI) and risk for migraine. DNA Cell Biol. 2011;30:577-584.

80. Lemos C, Neto JL, Pereira-Monteiro J. et al. A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients. Eur J Neurol. 2011;18:649-655.

81. Tzourio C, Amrani M, Poirier O. et al. Association between migraine and endothelin type A receptor (ETA -231 A/G) gene polymorphism. Neurology. 2001;56:1273-1277.

82. Jia S, Ni J, Chen S. et al. Association of the pentanucleotide repeat polymorphism in NOS2 promoter region with susceptibility to migraine in a Chinese population. DNA Cell Biol. 2011;30(2):117-122.

83. de O S Mansur T, Gonсalves FM, Martins-Oliveira A. et al. Inducible nitric oxide synthase haplotype associated with migraine and aura. Mol Cell Biochem. 2012;364:303-308.

84. Borroni B, Rao R, Liberini P. et al. Endothelial nitric oxide synthase (Glu298Asp) polymorphism is an independent risk factor for migraine with aura. Headache. 2006;46(10):1575-1579.

85. Colson N, Fernandez F, Griffiths L. Genetics of menstrual migraine: the molecular evidence. Curr Pain Headache Rep. 2010;14:389-395. Colson NJ, Lea RA, Quinlan S. et al. The estrogen receptor 1 G594A polymorphism is associated with migraine susceptibility in two independent case/control groups. Neurogenetics. 2004;5:129-133.

86. Colson NJ, Lea RA, Quinlan S. et al. Investigation of hormone receptor genes in migraine. Neurogenetics. 2005;6:17-23.

87. Oterino A, Pascual J, Ruiz de Alegria C. et al. Association of migraine and ESR1 G325C polymorphism. Neuroreport. 2006;17:61-64.

88. Oterino A, Toriello M, Cayon A. et al. Multilocus analyses reveal involvement of the ESR1, ESR2, and FSHR genes in migraine. Headache. 2008;48:1438-1450.

89. Joshi G, Pradhan S, Mittal B. Role of the oestrogen receptor (ESR1 PvuII and ESR1 325 C->G) and progesterone receptor (PROGINS) polymorphisms in genetic susceptibility to migraine in a North Indian population. Cephalalgia. 2010;30:311-320.

90. Ghosh J, Joshi G, Pradhan S. et al. Potential role of aromatase over estrogen receptor gene polymorphisms in migraine susceptibility: a case control study from North India. PLoS One. 2012;7:e34828.

91. Rodriguez-Acevedo AJ, Maher BH, Lea RA. et al. Association of oestrogen-receptor gene (ESR1) polymorphisms with migraine in the large Norfolk Island pedigree. Cephalalgia. 2013;33:1139-1147.

92. Schurks M, Rist PM, Kurth T. Sex hormone receptor gene polymorphisms and migraine: a systematic review and meta-analysis. Cephalalgia. 2010;30:1306-1328.

93. Levy D. Endogenous mechanisms underlying the activation and sensitization of meningeal nociceptors: the role of immunovascular interactions and cortical spreading depression. Curr Pain Headache Rep. 2012;16:270-277.

94. Rainero I, Grimaldi LM, Salani G. et al. Association between the tumor necrosis factor-alpha-308 G/A gene polymorphism and migraine. Neurology. 2004;62:141-143.

95. Mazaheri S, Hajilooi M, Rafiei A. The G-308A promoter variant of the tumor necrosis factor-alpha gene is associated with migraine without aura. J Neurol. 2006;253:1589-1593.

96. Trabace S, Brioli G, Lulli P. et al. Tumor necrosis factor gene polymorphism in migraine. Headache. 2002;42:341-345.

97. Lee KA, Jang SY, Sohn KM. et al. Association between a polymorphism in the lymphotoxin-a promoter region and migraine. Headache. 2007;47:1056-1062.

98. Dong W, Jia S, Ye X. et al. Association analysis of TNFRSF1B polymorphism with susceptibility for migraine in the Chinese Han population. J Clin Neurosci. 2012;19:750-752.

99. Rainero I, Fasano E, Rubino E. et al. Association between migraine and HLA-DRB1 gene polymorphisms. J Headache Pain. 2005;6:185-187.

100. Dasdemir S, Cetinkaya Y, Gencer M. et al. Cox-2 gene variants in migraine. Gene. 2013;518:292-295.

101. Yilmaz IA, Ozge A, Erdal ME. et al. Cytokine polymorphism in patients with migraine: some suggestive clues of migraine and inflammation. Pain Med. 2010;11:492-497.

102. Anttila V, Stefansson H, Kallela M. et al. International Headache Genetics Consortium. Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet. 2010;42(10):869-873.

103. Kang DC, Su ZZ, Sarkar D. et al. Cloning and characterization of HIV-1-inducible astrocyte elevated gene-1, AEG-1. Gene. 2005;353:8-15.

104. Gasparini CF, Griffiths LR. The biology of the glutamatergic system and potential role in migraine. Int J Biomed Sci. 2013;9:1-8.

105. Esserlind AL, Kirchmann M, Hauge AW. et al. A genotype-phenotype analysis of the 8q22.1 variant in migraine with aura. Eur J Neurol. 2012;19(4):603-609.

106. Christensen AF, Le H, Kirchmann M. et al. Genotypephenotype correlation in migraine without aura focusing on the rs1835740 variant on 8q22.1. J Headache Pain. 2012;13(1):21-27.

107. Azimova J, Kondratieva N, Sergeev A. et al. The Role of Polymorphism of Regulatory Region of MTDH Gene (Rs1835740) in Migraine and Other Forms of Primary Headaches. J Neurol Stroke. 2015;3(4):00101.

108. Chasman DI, Schurks M, Anttila V. et al. Genome-wide association study reveals three susceptibility loci for common migraine in the general population. Nat Genet. 2011;43:695-698.

109. Proudfoot CJ, Garry EM, Cottrell DF. et al. Analgesia mediated by the TRPM8 cold receptor in chronic neuropathic pain. Curr Biol. 2006;16:1591-1605.

110. Biondi DM. Is migraine a neuropathic pain syndrome?. Curr Pain Headache Rep. 2006;10:167-178.

111. Arndt AK, Schafer S, Drenckhahn JD. et al. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet. 2013;93:67-77.

112. Bjork BC, Turbe-Doan A, Prysak M. et al. Prdm16 is required for normal palatogenesis in mice. Hum Mol Genet. 2010;19:774-789.

113. Fan X, Wang J, Fan W. et al. Replication of migraine GWAS susceptibility loci in Chinese Han population. Headache. 2014;54:709-715.

114. Esserlind AL, Christensen AF, Le H. et al. Replication and meta-analysis of common variants identifies a genome-wide significant locus in migraine. Eur J Neurol. 2013;20:765-772.

115. Ligthart L, de Vries B, Smith AV. et al. Meta-analysis of genome-wide association for migraine in six population-based European cohorts. Eur J Hum Genet. 2011;19:901-907.

116. Freilinger T, Anttila V, de Vries B, International Headache Genetics Consortium et al. Genome-wide association analysis identifies susceptibility loci for migraine without aura. Nat Genet. 2012;44:777-782.

117. Shalizi A, Gaudilliere B, Yuan Z. et al. A calcium-regulated MEF2 sumoylation switch controls postsynaptic differentiation. Science. 2006;311:1012-1017.

118. Flavell SW, Cowan CW, Kim TK. et al. Activity-dependent regulation of MEF2 transcription factors suppresses excitatory synapse number. Science. 2006;311:1008-1012.

119. Ferrari MD, Odink J, Bos KD. et al. Neuroexcitatory plasma amino acids are elevated in migraine. Neurology. 1990;40:1582-1586.

120. Lin HY, Wang XF, Ng-Eaton E. et al. Expression cloning of the TGF-beta type II receptor, a functional transmembrane serine/threonine kinase. Cell. 1992;68:775-785.

121. Law C, Bunyan D, Castle B. et al. Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene. J Med Genet. 2006;43:908-916.

122. Allen PB, Greenfield AT, Svenningsson P. et al. Phactrs 1-4: a family of protein phosphatise 1 and actin regulatory proteins. Proc. Nat. Acad. Sci. 2004;101:7187-7192.

123. Greengard P, Allen PB, Nairn AC. Beyond the Dopamine Receptor: the DARPP-32/Protein Phosphatase-1 Cascade. Neuron. 1999;23:435-447.

124. Jarray R, Allain B, Borriello L. et al. Depletion of the novel protein PHACTR-1 from human endothelial cells abolishes tube formation and induces cell death receptor apoptosis. Biochemie. 2011;93:1668-1675.

125. Wilson PM, Fryer RH, Fang Y. et al. Astn2, a novel member of the astrotactin gene family, regulates the trafficking of ASTN1 during glial-guided neuronal migration. J. Neurosci. 2010;30:8529-8540.

126. Cox HC, Lea RA, Bellis C. et al. A genome-wide analysis of ‘Bounty’ descendants implicates several novel variants in migraine susceptibility. Neurogenetics. 2012;13:261-266.

127. Bard JA, Zgombick J, Adham N. et al. Cloning of a novel human serotonin receptor (r5-HT7) positively linked to adenylate cyclase. J Biol Chem. 1993;268(31):23422-23426.

128. Vanhoenacker P, Haegeman G, Leysen JE. 5-HT7 receptors: current knowledge and future prospects. Trends Pharmacol Sci. 2000;21:70-77.

129. Anttila V, Winsvold BS, Gormley P. et al. North American Brain Expression Consortium. V. UK Brain Expression Consortium. V. International Headache Genetics Consortium. Genome-wide meta-analysis identifies new susceptibility loci for migraine. Nat Genet. 2013;45:912-917.

130. Dash PK, Hochner B, Kandel ER. Injection of the cAMP-responsive element into the nucleus of Aplysia sensory neurons blocks long-term facilitation. Nature. 1990;345:718-721.

131. Lee YS, Silva AJ. The molecular and cellular biology of enhanced cognition. Nat Rev Neurosci. 2009;10:126-140.

132. Sherman EA, Strauss KA, Tortorelli S. et al. Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10. Am J Hum Genet. 2008;83:604-609.

133. Schreiner A, Ruonala M, Jakob V. et al. Junction protein shrew-1 influences cell invasion and interacts with invasion-promoting protein CD147. Mol Biol Cell. 2007;18:1272-1281.

134. Lafleur MA, Xu D, Hemler ME. Tetraspanin proteins regulate membrane type-1 matrix metalloproteinase-dependent pericellular proteolysis. Mol Biol Cell. 2009;20:2030-2040.

135. Ferrari MD, Klever RR, Terwindt GM. et al. Migraine pathophysiology: lessons from mouse models and human genetics. Lancet Neurol. 2015;14(1):65-80.


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Кондратьева Н.С., Анучина А.А., Кокаева З.Г., Наумова Е.А., Азимова Ю.Э., Сергеев А.В., Скоробогатых К.В., Табеева Г.Р., Климов Е.А. Генетика мигрени. Медицинская генетика. 2016;15(1):3-13. https://doi.org/10.1234/XXXX-XXXX-2016-1-3-13

For citation:


Kondratieva N.S., Anuchina A.A., Kokaeva Z.G., Naumova E.A., Azimova J.E., Sergeev A.V., Skorobogatykh K.V., Tabeeva G.R., Klimov E.A. Genetics of migraine. Medical Genetics. 2016;15(1):3-13. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-1-3-13

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