Genetics of migraine in the age of genome-wide association studies

Journal of Headache and Pain

Volumn 13, Issue 1, 2012, Pages 1-9

  Schürks, Markus ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Genetics; Genome wide association studies; Glutamate; LRP1; Migraine; Migraine with aura; PRDM16; TRPM8

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); DIPEPTIDYL CARBOXYPEPTIDASE; DOPAMINE; ESTROGEN RECEPTOR ALPHA; EXCITATORY AMINO ACID TRANSPORTER 2; LIPOPROTEIN RECEPTOR; LRP1 PROTEIN; LYMPHOTOXIN; NERVE GROWTH FACTOR; PRDM16 PROTEIN; PROGESTERONE RECEPTOR; PROTEIN; SEROTONIN; SEROTONIN TRANSPORTER; SODIUM CHANNEL NAV1.1; TRANSIENT RECEPTOR POTENTIAL CHANNEL M8; TUMOR NECROSIS FACTOR ALPHA; UNCLASSIFIED DRUG;

ATP1A2 GENE; CACNA1A GENE; CHROMOSOME 19P; CHROMOSOME 1Q; CHROMOSOME 2Q; FAMILIAL HEMIPLEGIC MIGRAINE; GENE; GENE DELETION; GENE INSERTION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; HUMAN; MIGRAINE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

DNA-BINDING PROTEINS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN-1; MIGRAINE DISORDERS; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTORS; TRPM CATION CHANNELS;

EID: 84859595411     PISSN: 11292369     EISSN: 11292377     Source Type: Journal    
DOI: 10.1007/s10194-011-0399-0     Document Type: Review

References (69)

1. Haut SR, Bigal ME, Lipton RB (2006) Chronic disorders with episodic manifestations: focus on epilepsy and migraine. Lancet Neurol 5(2):148-157 (Pubitemid 43107850)
2. Silberstein SD (2004) Migraine. Lancet 363(9406):381-391
3. Headache Classification Subcommittee of the International Headache Society (2004) The International Classification of Headache Disorders: 2nd edn. Cephalalgia 24(Suppl 1):9-160
4. Bille B (1997) A 40-year follow-up of school children with migraine. Cephalalgia 17(4):488-491
5. Mulder EJ, van Baal C, Gaist D, Kallela M, Kaprio J, Svensson DA, Nyholt DR, Martin NG, MacGregor AJ, Cherkas LF, Boomsma DI, Palotie A (2003) Genetic and environmental influences on migraine: a twin study across six countries. Twin Res 6(5):422-431 (Pubitemid 38019780)
6. Svensson DA, Larsson B, Waldenlind E, Pedersen NL (2003) Shared rearing environment in migraine: results from twins reared apart and twins reared together. Headache 43(3):235-244 (Pubitemid 36348770)
7. Ligthart L, Boomsma DI, Martin NG, Stubbe JH, Nyholt DR (2006) Migraine with aura and migraine without aura are not distinct entities: further evidence from a large Dutch population study. Twin Res Hum Genet 9(1):54-63 (Pubitemid 43384793)
8. Nyholt DR, Gillespie NG, Heath AC, Merikangas KR, Duffy DL, Martin NG (2004) Latent class and genetic analysis does not support migraine with aura and migraine without aura as separate entities. Genet Epidemiol 26(3):231-244 (Pubitemid 38420336)
9. Akerman S, Goadsby PJ (2007) Dopamine and migraine: biology and clinical implications. Cephalalgia 27(11):1308-1314
10. Lipton RB, Bigal ME (2005) The epidemiology of migraine. Am J Med 118(1):3S-10S
11. Brandes JL (2006) The influence of estrogen on migraine: a systematic review. JAMA 295(15):1824-1830
12. Schürks M, Rist PM, Kurth T (2010) Sex hormone receptor gene polymorphisms and migraine: a systematic review and metaanalysis. Cephalalgia 30(11):1306-1328
13. De Fusco M, Marconi R, Silvestri L, Atorino L, Rampoldi L, Morgante L, Ballabio A, Aridon P, Casari G (2003) Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 33(2):192-196 (Pubitemid 36177073)
14. Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, van den Maagdenberg AM, Pusch M, Strom TM (2005) Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 366(9483):371-377 (Pubitemid 41073954)
15. Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR (1996) Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87(3):543-552 (Pubitemid 26374327)
16. de Vries B, Frants RR, Ferrari MD, van den Maagdenberg AM (2009) Molecular genetics of migraine. Hum Genet 126(1):115-132
17. Maher BH, Griffiths LR (2011) Identification of molecular genetic factors that influence migraine. Mol Genet Genomics 285(6):433-446
18. Nyholt DR, LaForge KS, Kallela M, Alakurtti K, Anttila V, Farkkila M, Hamalainen E, Kaprio J, Kaunisto MA, Heath AC, Montgomery GW, Gobel H, Todt U, Ferrari MD, Launer LJ, Frants RR, Terwindt GM, de Vries B, Verschuren WM, Brand J, Freilinger T, Pfaffenrath V, Straube A, Ballinger DG, Zhan Y, Daly MJ, Cox DR, Dichgans M, van den Maagdenberg AM, Kubisch C, Martin NG, Wessman M, Peltonen L, Palotie A (2008) A high-density association screen of 155 ion transport genes for involvement with common migraine. Hum Mol Genet 17(21):3318-3331
19. Pietrobon D, Striessnig J (2003) Neurobiology of migraine. Nat Rev Neurosci 4(5):386-398 (Pubitemid 37280177)
20. Hamel E (2007) Serotonin and migraine: biology and clinical implications. Cephalalgia 27(11):1293-1300
21. Ramamoorthy S, Bauman AL, Moore KR, Han H, Yang-Feng T, Chang AS, Ganapathy V, Blakely RD (1993) Antidepressant- and cocaine-sensitive human serotonin transporter: molecular cloning, expression, and chromosomal localization. Proc Natl Acad Sci USA 90(6):2542-2546 (Pubitemid 23078664)
22. Heils A, Teufel A, Petri S, Seemann M, Bengel D, Balling U, Riederer P, Lesch KP (1995) Functional promoter and polyadenylation site mapping of the human serotonin (5-HT) transporter gene. J Neural Transm 102(3):247-254 (Pubitemid 26010732)
23. Heils A, Teufel A, Petri S, Stober G, Riederer P, Bengel D, Lesch KP (1996) Allelic variation of human serotonin transporter gene expression. J Neurochem 66(6):2621-2624 (Pubitemid 26159101)
24. Lesch KP, Bengel D, Heils A, Sabol SZ, Greenberg BD, Petri S, Benjamin J, Muller CR, Hamer DH, Murphy DL (1996) Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region. Science 274(5292): 1527-1531 (Pubitemid 26403928)
25. Schürks M, Rist PM, Kurth T (2010) 5-HTTLPR polymorphism in the serotonin transporter gene and migraine: a systematic review and meta-analysis. Cephalalgia 30(11):1296-1305
26. Sicuteri F (1977) Dopamine, the second putative protagonist in headache. Headache 17(3):129-131
27. Wood PB (2008) Role of central dopamine in pain and analgesia. Expert Rev Neurother 8(5):781-797
28. Moskowitz MA (2007) Pathophysiology of headache - past and present. Headache 47(Suppl 1):S58-S63 (Pubitemid 46587636)
29. Covelli V, Munno I, Pellegrino NM, Altamura M, Decandia P, Marcuccio C, Di Venere A, Jirillo E (1991) Are TNF-alpha and IL-1 beta relevant in the pathogenesis of migraine without aura? Acta Neurol (Napoli) 13:205-211
30. Covelli V, Munno I, Pellegrino NM, Di Venere A, Jirillo E, Buscaino GA (1990) Exaggerated spontaneous release of tumor necrosis factor-alpha/cachectin in patients with migraine without aura. Acta Neurol (Napoli) 12(4):257-263
31. Perini F, D'Andrea G, Galloni E, Pignatelli F, Billo G, Alba S, Bussone G, Toso V (2005) Plasma cytokine levels in migraineurs and controls. Headache 45(7):926-931 (Pubitemid 41045371)
32. Mueller L, Gupta AK, Stein TP (2001) Deficiency of tumor necrosis factor alpha in a subclass of menstrual migraineurs. Headache 41(2):129-137 (Pubitemid 32209900)
33. Durham PL (2006) Calcitonin gene-related peptide (CGRP) and migraine. Headache 46(Suppl 1):S3-S8
34. Wilson AG, Symons JA, McDowell TL, McDevitt HO, Duff GW (1997) Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. Proc Natl Acad Sci USA 94(7):3195-3199 (Pubitemid 27157287)
35. Bouma G, Crusius JB, Oudkerk Pool M, Kolkman JJ, von Blomberg BM, Kostense PJ, Giphart MJ, Schreuder GM, Meuwissen SG, Pena AS (1996) Secretion of tumour necrosis factor alpha and lymphotoxin alpha in relation to polymorphisms in the TNF genes and HLA-DR alleles. Relevance for inflammatory bowel disease. Scand J Immunol 43(4):456-463 (Pubitemid 26104933)
36. Schürks M, Rist PM, Zee RYL, Chasman DI, Kurth T (2011) Tumor necrosis factor gene polymorphisms and migraine: a systematic review and meta-analysis. Cephalalgia 31:1381-1404
37. Charles A (2009) Advances in the basic and clinical science of migraine. Ann Neurol 65(5):491-498
38. Schürks M, Rist PM, Bigal ME, Buring JE, Lipton RB, Kurth T (2009) Migraine and cardiovascular disease: a systematic review and meta-analysis. BMJ 339:b3914
39. Tietjen GE, Al-Qasmi MM, Shukairy MS (2002) Livedo reticularis and migraine: a marker for stroke risk? Headache 42(5): 352-355 (Pubitemid 34596151)
40. Tietjen GE, Al-Qasmi MM, Gunda P, Herial NA (2006) Sneddon's syndrome: another migraine-stroke association? Cephalalgia 26(3):225-232
41. Vanmolkot FH, van Bortel LM, de Hoon JN (2007) Altered arterial function in migraine of recent onset. Neurology 68(19):1563-1570 (Pubitemid 46717979)
42. Tietjen EG (2007) Migraine and ischaemic heart disease and stroke: potential mechanisms and treatment implications. Cephalalgia 27(8):981-987
43. Schürks M, Rist PM, Kurth T (2010) MTHFR 677C>T and ACE D/I polymorphisms in migraine: a systematic review and metaanalysis. Headache 50:588-599
44. Nyholt DR, Morley KI, Ferreira MA, Medland SE, Boomsma DI, Heath AC, Merikangas KR, Montgomery GW, Martin NG (2005) Genomewide significant linkage to migrainous headache on chromosome 5q21. Am J Hum Genet 77(3):500-512 (Pubitemid 41192656)
45. Carlsson A, Forsgren L, Nylander PO, Hellman U, Forsman- Semb K, Holmgren G, Holmberg D, Holmberg M (2002) Identification of a susceptibility locus for migraine with and without aura on 6p12.2-p21.1. Neurology 59(11):1804-1807
46. Nyholt DR, Lea RA, Goadsby PJ, Brimage PJ, Griffiths LR (1998) Familial typical migraine: linkage to chromosome 19p13 and evidence for genetic heterogeneity. Neurology 50(5):1428-1432 (Pubitemid 28240365)
47. Lea RA, Shepherd AG, Curtain RP, Nyholt DR, Quinlan S, Brimage PJ, Griffiths LR (2002) A typical migraine susceptibility region localizes to chromosome 1q31. Neurogenetics 4(1):17-22 (Pubitemid 36401754)
48. Wessman M, Kallela M, Kaunisto MA, Marttila P, Sobel E, Hartiala J, Oswell G, Leal SM, Papp JC, Hamalainen E, Broas P, Joslyn G, Hovatta I, Hiekkalinna T, Kaprio J, Ott J, Cantor RM, Zwart JA, Ilmavirta M, Havanka H, Farkkila M, Peltonen L, Palotie A (2002) A susceptibility locus for migraine with aura, on chromosome 4q24. Am J Hum Genet 70(3):652-662 (Pubitemid 34177920)
49. Deprez L, Peeters K, van Paesschen W, Claeys KG, Claes LR, Suls A, Audenaert D, van Dyck T, Goossens D, Del-Favero J, de Jonghe P (2007) Familial occipitotemporal lobe epilepsy and migraine with visual aura. Linkage to chromosome 9q. Neurology 68(23):1995-2002 (Pubitemid 46869703)
50. Cader ZM, Noble-Topham S, Dyment DA, Cherny SS, Brown JD, Rice GP, Ebers GC (2003) Significant linkage to migraine with aura on chromosome 11q24. Hum Mol Genet 12(19):2511-2517 (Pubitemid 37220415)
51. Russo L, Mariotti P, Sangiorgi E, Giordano T, Ricci I, Lupi F, Chiera R, Guzzetta F, Neri G, Gurrieri F (2005) A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes. Am J Hum Genet 76(2):327-333 (Pubitemid 40129558)
52. Soragna D, Vettori A, Carraro G, Marchioni E, Vazza G, Bellini S, Tupler R, Savoldi F, Mostacciuolo ML (2003) A locus for migraine without aura maps on chromosome 14q21.2-q22.3. Am J Hum Genet 72(1):161-167 (Pubitemid 36056852)
53. Bjornsson A, Gudmundsson G, Gudfinnsson E, Hrafnsdottir M, Benedikz J, Skuladottir S, Kristjansson K, Frigge ML, Kong A, Stefansson K, Gulcher JR (2003) Localization of a gene for migraine without aura to chromosome 4q21. Am J Hum Genet 73(5):986-993 (Pubitemid 37414215)
54. Wessman M, Terwindt GM, Kaunisto MA, Palotie A, Ophoff RA (2007) Migraine: a complex genetic disorder. Lancet Neurol 6(6):521-532 (Pubitemid 46734771)
55. Anttila V, Kallela M, Oswell G, Kaunisto MA, Nyholt DR, Hamalainen E, Havanka H, Ilmavirta M, Terwilliger J, Sobel E, Peltonen L, Kaprio J, Farkkila M, Wessman M, Palotie A (2006) Trait components provide tools to dissect the genetic susceptibility of migraine. Am J Hum Genet 79(1):85-99 (Pubitemid 43927379)
56. Anttila V, Nyholt DR, Kallela M, Artto V, Vepsalainen S, Jakkula E, Wennerstrom A, Tikka-Kleemola P, Kaunisto MA, Hamalainen E, Widen E, Terwilliger J, Merikangas K, Montgomery GW, Martin NG, Daly M, Kaprio J, Peltonen L, Farkkila M, Wessman M, Palotie A (2008) Consistently replicating locus linked to migraine on 10q22-q23. Am J Hum Genet 82(5):1051-1063
57. Anttila V, Stefansson H, Kallela M, Todt U, Terwindt GM, Calafato MS, Nyholt DR, Dimas AS, Freilinger T, Muller-Myhsok B, Artto V, Inouye M, Alakurtti K, Kaunisto MA, Hamalainen E, de Vries B, Stam AH, Weller CM, Heinze A, Heinze- Kuhn K, Goebel I, Borck G, Gobel H, Steinberg S, Wolf C, Bjornsson A, Gudmundsson G, Kirchmann M, Hauge A, Werge T, Schoenen J, Eriksson JG, Hagen K, Stovner L, Wichmann HE, Meitinger T, Alexander M, Moebus S, Schreiber S, Aulchenko YS, Breteler MM, Uitterlinden AG, Hofman A, van Duijn CM, Tikka-Kleemola P, Vepsalainen S, Lucae S, Tozzi F, Muglia P, Barrett J, Kaprio J, Farkkila M, Peltonen L, Stefansson K, Zwart JA, Ferrari MD, Olesen J, Daly M, Wessman M, van den Maagdenberg AM, Dichgans M, Kubisch C, Dermitzakis ET, Frants RR, Palotie A, International Headache Genetics C (2010) Genome- wide association study of migraine implicates a common susceptibility variant on 8q22.1. Nat Genet 42(10):869-873
58. Andreou AP, Goadsby PJ (2009) Therapeutic potential of novel glutamate receptor antagonists in migraine. Expert Opin Investig Drugs 18(6):789-803
59. Sanchez-del-Rio M, Reuter U (2004) Migraine aura: new information on underlying mechanisms. Curr Opin Neurol 17(3):289-293 (Pubitemid 38720981)
60. Hadjikhani N, Sanchez Del Rio M, Wu O, Schwartz D, Bakker D, Fischl B, Kwong KK, Cutrer FM, Rosen BR, Tootell RB, Sorensen AG, Moskowitz MA (2001) Mechanisms of migraine aura revealed by functional MRI in human visual cortex. Proc Natl Acad Sci USA 98(8):4687-4692 (Pubitemid 32295037)
61. Ligthart L, de Vries B, Smith AV, Ikram MA, Amin N, Hottenga JJ, Koelewijn SC, Kattenberg VM, de Moor MH, Janssens AC, Aulchenko YS, Oostra BA, de Geus EJ, Smit JH, Zitman FG, Uitterlinden AG, Hofman A, Willemsen G, Nyholt DR, Montgomery GW, Terwindt GM, Gudnason V, Penninx BW, Breteler M, Ferrari MD, Launer LJ, van Duijn CM, van den Maagdenberg AM, Boomsma DI (2011) Meta-analysis of genome-wide association for migraine in six population-based European cohorts. Eur J Hum Genet 19(8):901-907
62. Chasman DI, Schürks M, Anttila V, de Vries B, Schminke U, Launer LJ, Terwindt GM, van den Maagdenberg AM, Fendrich K, Volzke H, Ernst F, Griffiths LR, Buring JE, Kallela M, Freilinger T, Kubisch C, Ridker PM, Palotie A, Ferrari MD, Hoffmann W, Zee RY, Kurth T (2011) Genome-wide association study reveals three susceptibility loci for common migraine in the general population. Nat Genet 43(7):695-698
63. Proudfoot CJ, Garry EM, Cottrell DF, Rosie R, Anderson H, Robertson DC, Fleetwood-Walker SM, Mitchell R (2006) Analgesia mediated by the TRPM8 cold receptor in chronic neuropathic pain. Curr Biol 16(16):1591-1605 (Pubitemid 44233290)
64. Peier AM, Moqrich A, Hergarden AC, Reeve AJ, Andersson DA, Story GM, Earley TJ, Dragoni I, McIntyre P, Bevan S, Patapoutian A (2002) A TRP channel that senses cold stimuli and menthol. Cell 108(5):705-715 (Pubitemid 34241429)
65. Dray A (2008) Neuropathic pain: emerging treatments. Br J Anaesth 101(1):48-58
66. Biondi DM (2006) Is migraine a neuropathic pain syndrome? Curr Pain Headache Rep 10(3):167-178
67. Lillis AP, van Duyn LB, Murphy-Ullrich JE, Strickland DK (2008) LDL receptor-related protein 1: unique tissue-specific functions revealed by selective gene knockout studies. Physiol Rev 88(3):887-918
68. Secker-Walker LM, Mehta A, Bain B (1995) Abnormalities of 3q21 and 3q26 in myeloid malignancy: a United Kingdom Cancer Cytogenetic Group study. Br J Haematol 91:490-501
69. Seale P, Kajimura S, Spiegelman BM (2009) Transcriptional control of brown adipocyte development and physiological function - of mice and men. Genes Dev 23(7):788-797