Genetics of Cluster Headache
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- 作者：Markus Schürks (1) (2)
- 关键词：Cluster headache ; Gene variants ; G proteins ; Hypocretin ; Heritability ; Association studies
- 刊名：Current Pain and Headache Reports
- 出版年：2010
- 出版时间：April 2010
- 年：2010
- 卷：14
- 期：2
- 页码：132-139
- 全文大小：150KB
- 参考文献：1. May A: Cluster headache: pathogenesis, diagnosis, and management. Lancet 2005, 366:843-55. nal" href="http://dx.doi.org/10.1016/S0140-6736(05)67217-0">CrossRef
2. Russell MB: Epidemiology and genetics of cluster headache. Lancet Neurol 2004, 3:279-83. nal" href="http://dx.doi.org/10.1016/S1474-4422(04)00735-5">CrossRef
3. Headache Classification Subcommittee of the International Headache Society: The International Classification of Headache Disorders, 2nd edn. Cephalalgia 2004, 24(Suppl 1):9-60.
4. Schürks M, Diener HC: Cluster headache and lifestyle habits. Curr Pain Headache Rep 2008, 12:115-21. nal" href="http://dx.doi.org/10.1007/s11916-008-0022-5">CrossRef
5. Fischera M, Marziniak M, Gralow I, Evers S: The incidence and prevalence of cluster headache: a meta-analysis of population-based studies. Cephalalgia 2008, 28:614-18. nal" href="http://dx.doi.org/10.1111/j.1468-2982.2008.01592.x">CrossRef
6. Evers S, Frese A, Majewski A, et al.: Age of onset in cluster headache: the clinical spectrum (three case reports). Cephalalgia 2002, 22:160-62. nal" href="http://dx.doi.org/10.1046/j.1468-2982.2002.00320.x">CrossRef
7. Ekbom K, Greitz T: Carotid angiography in cluster headache. Acta Radiol Diagn (Stockh) 1970, 10:177-86.
8. Goadsby PJ, Edvinsson L: Human in vivo evidence for trigeminovascular activation in cluster headache. Neuropeptide changes and effects of acute attacks therapies. Brain 1994, 117:427-34.
9. Ekbom K: Nitroglycerin as a provocative agent in cluster headache. Arch Neurol 1968, 19:487-93.
10. Sj?strand C, Modin H, Masterman T, et al.: Analysis of nitric oxide synthase genes in cluster headache. Cephalalgia 2002, 22:758-64. nal" href="http://dx.doi.org/10.1046/j.1468-2982.2002.00452.x">CrossRef
11. Hannerz J: Orbital phlebography and signs of inflammation in episodic and chronic cluster headache. Headache 1991, 31:540-42. nal" href="http://dx.doi.org/10.1111/j.1526-4610.1991.hed3108540.x">CrossRef
12. Sj?strand C, Duvefelt K, Steinberg A, et al.: Gene expression profiling in cluster headache: a pilot microarray study. Headache 2006, 46:1518-534. nal" href="http://dx.doi.org/10.1111/j.1526-4610.2006.00611.x">CrossRef
13. May A, Bahra A, Buchel C, et al.: Hypothalamic activation in cluster headache attacks. Lancet 1998, 352:275-78. nal" href="http://dx.doi.org/10.1016/S0140-6736(98)02470-2">CrossRef
14. Nishino S: The hypocretin/orexin system in health and disease. Biol Psychiatry 2003, 54:87-5. (Published erratum in Biol Psychiatry 2003, 54:175.)
15. de Lecea L, Kilduff TS, Peyron C, et al.: The hypocretins: hypothalamus-specific peptides with neuroexcitatory activity. Proc Natl Acad Sci U S A 1998, 95:322-27. nal" href="http://dx.doi.org/10.1073/pnas.95.1.322">CrossRef
16. Sakurai T, Amemiya A, Ishii M, et al.: Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. Cell 1998, 92:1 page following 696.
17. Bartsch T, Levy MJ, Knight YE, Goadsby PJ: Differential modulation of nociceptive dural input to [hypocretin] orexin A and B receptor activation in the posterior hypothalamic area. Pain 2004, 109:367-78. nal" href="http://dx.doi.org/10.1016/j.pain.2004.02.005">CrossRef
18. Shimomura T, Kitano A, Marukawa H, et al.: Point mutation in platelet mitochondrial tRNA(Leu(UUR)) in patient with cluster headache. Lancet 1994, 344:625. nal" href="http://dx.doi.org/10.1016/S0140-6736(94)92015-X">CrossRef
19. Seibel P, Grunewald T, Gundolla A, et al.: Investigation on the mitochondrial transfer RNA(Leu)(UUR) in blood cells from patients with cluster headache. J Neurol 1996, 243:305-07. nal" href="http://dx.doi.org/10.1007/BF00868402">CrossRef
20. 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, 87:543-52. nal" href="http://dx.doi.org/10.1016/S0092-8674(00)81373-2">CrossRef
21. Haan J, van Vliet JA, Kors EE, et al.: No involvement of the calcium channel gene (CACNA1A) in a family with cluster headache. Cephalalgia 2001, 21:959-62. nal" href="http://dx.doi.org/10.1046/j.1468-2982.2001.00283.x">CrossRef
22. Sj?strand C, Giedratis V, Ekbom K, et al.: CACNA1A gene polymorphisms in cluster headache. Cephalalgia 2001, 21:953-58. nal" href="http://dx.doi.org/10.1046/j.1468-2982.2001.00281.x">CrossRef
23. Aridon P, D’Andrea G, Rigamonti A, et al.: Elusive amines and cluster headache: mutational analysis of trace amine receptor cluster on chromosome 6q23. Neurol Sci 2004, 25(Suppl 3):S279–S280. nal" href="http://dx.doi.org/10.1007/s10072-004-0309-1">CrossRef
24. Rainero I, Rubino E, Rivoiro C, et al.: Haemochromatosis gene (HFE) polymorphisms and migraine: an association study. Cephalalgia 2007, 27:9-3. nal" href="http://dx.doi.org/10.1111/j.1468-2982.2006.01231.x">CrossRef
25. Rainero I, Rubino E, Gallone S, et al.: Cluster headache is associated with the alcohol dehydrogenase 4 (ADH4) gene. Headache 2009, Nov 17 (Epub ahead of print).
26. Summ O, Gregor N, Marziniak M, et al.: Cluster headache and alpha 1-antitrypsin deficiency. Cephalalgia 2009 Jun 8 (Epub ahead of print).
27. Cevoli S, Mochi M, Pierangeli G, et al.: Investigation of the T3111C CLOCK gene polymorphism in cluster headache. J Neurol 2008, 255:299-00. nal" href="http://dx.doi.org/10.1007/s00415-008-0719-8">CrossRef
28. Rainero I, Rivoiro C, Gallone S, et al.: Lack of association between the 3092 T–-gt;?C Clock gene polymorphism and cluster headache. Cephalalgia 2005, 25:1078-081. nal" href="http://dx.doi.org/10.1111/j.1468-2982.2005.00965.x">CrossRef
29. Rainero I, Gallone S, Valfre W, et al.: A polymorphism of the hypocretin receptor 2 gene is associated with cluster headache. Neurology 2004, 63:1286-288.
30. Schürks M, Kurth T, Geissler I, et al.: Cluster headache is associated with the G1246A polymorphism in the hypocretin receptor 2 gene. Neurology 2006, 66:1917-919. nal" href="http://dx.doi.org/10.1212/01.wnl.0000215852.35329.34">CrossRef
31. Baumber L, Sj?strand C, Leone M, et al.: A genome-wide scan and HCRTR2 candidate gene analysis in a European cluster headache cohort. Neurology 2006, 66:1888-893. nal" href="http://dx.doi.org/10.1212/01.wnl.0000219765.95038.d7">CrossRef
32. -Rainero I, Rubino E, Valfre W, et al.: Association between the G1246A polymorphism of the hypocretin receptor 2 gene and cluster headache: a meta-analysis. J Headache Pain 2007, 8:152-56. / This meta-analysis underlines the role of the HCRTR2 / 1246G-gt;?A polymorphism in CH. nal" href="http://dx.doi.org/10.1007/s10194-007-0383-x">CrossRef
33. Rainero I, Gallone S, Rubino E, et al.: Haplotype analysis confirms the association between the HCRTR2 gene and cluster headache. Headache 2008, 48:1108-114. nal" href="http://dx.doi.org/10.1111/j.1526-4610.2008.01080.x">CrossRef
34. May A, Leone M, Afra J, et al.: EFNS guidelines on the treatment of cluster headache and other trigeminal-autonomic cephalalgias. Eur J Neurol 2006, 13:1066-077. nal" href="http://dx.doi.org/10.1111/j.1468-1331.2006.01566.x">CrossRef
35. Treatment of acute cluster headache with sumatriptan. The Sumatriptan Cluster Headache Study Group [No authors listed]. N Engl J Med 1991, 325:322-26. nal" href="http://dx.doi.org/10.1056/NEJM199108013250505">CrossRef
36. Schürks M, Kurth T, de Jesus J, et al.: Cluster headache: clinical presentation, lifestyle features, and medical treatment. Headache 2006, 46:1246-254. nal" href="http://dx.doi.org/10.1111/j.1526-4610.2006.00534.x">CrossRef
37. Schürks M, Rosskopf D, de Jesus J, et al.: Predictors of acute treatment response among patients with cluster headache. Headache 2007, 47:1079-084. nal" href="http://dx.doi.org/10.1111/j.1526-4610.2007.00862.x">CrossRef
38. Schürks M, Kurth T, Geissler I, et al.: The G1246A polymorphism in the hypocretin receptor 2 gene is not associated with treatment response in cluster headache. Cephalalgia 2007, 27:363-67. nal" href="http://dx.doi.org/10.1111/j.1468-2982.2007.01287.x">CrossRef
39. MaassenVanDenBrink A, Vergouwe MN, Ophoff RA, et al.: 5-HT1B receptor polymorphism and clinical response to sumatriptan. Headache 1998, 38:288-91. nal" href="http://dx.doi.org/10.1046/j.1526-4610.1998.3804288.x">CrossRef
40. -Schürks M, Kurth T, Stude P, et al.: G protein beta3 polymorphism and triptan response in cluster headache. Clin Pharmacol Ther 2007, 82:396-01. / This is the first report suggesting that the GNB3 / 825C-gt;?T polymorphism modulates response to triptans in CH. nal" href="http://dx.doi.org/10.1038/sj.clpt.6100159">CrossRef
41. Lee HJ, Cha JH, Ham BJ, et al.: Association between a G-protein beta 3 subunit gene polymorphism and the symptomatology and treatment responses of major depressive disorders. Pharmacogenomics J 2004, 4:29-3. nal" href="http://dx.doi.org/10.1038/sj.tpj.6500217">CrossRef
42. Mitchell A, Buhrmann S, Seifert A, et al.: Venous response to nitroglycerin is enhanced in young, healthy carriers of the 825T allele of the G protein beta3 subunit gene (GNB3). Clin Pharmacol Ther 2003, 74:499-04. nal" href="http://dx.doi.org/10.1016/S0009-9236(03)00230-3">CrossRef
43. Nurnberger J, Dammer S, Mitchell A, et al.: Effect of the C825T polymorphism of the G protein beta 3 subunit on the systolic blood pressure-lowering effect of clonidine in young, healthy male subjects. Clin Pharmacol Ther 2003, 74:53-0. nal" href="http://dx.doi.org/10.1016/S0009-9236(03)00087-0">CrossRef
44. Zill P, Baghai TC, Zwanzger P, et al.: Evidence for an association between a G-protein beta3-gene variant with depression and response to antidepressant treatment. Neuroreport 2000, 11:1893-897. nal" href="http://dx.doi.org/10.1097/00001756-200006260-00018">CrossRef
45. Rosskopf D, Koch K, Habich C, et al.: Interaction of Gbeta3s, a splice variant of the G-protein Gbeta3, with Ggamma-and Galpha-proteins. Cell Signal 2003, 15:479-88. nal" href="http://dx.doi.org/10.1016/S0898-6568(02)00140-7">CrossRef
46. Siffert W, Rosskopf D, Siffert G, et al.: Association of a human G-protein beta3 subunit variant with hypertension. Nat Genet 1998, 18:45-8. nal" href="http://dx.doi.org/10.1038/ng0198-45">CrossRef
47. Galeotti N, Ghelardini C, Zoppi M, et al.: Hypofunctionality of Gi proteins as aetiopathogenic mechanism for migraine and cluster headache. Cephalalgia 2001, 21:38-5. nal" href="http://dx.doi.org/10.1046/j.1468-2982.2001.00142.x">CrossRef - 作者单位：Markus Schürks (1) (2)
1. Division of Preventive Medicine, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, 900 Commonwealth Avenue East, 3rd Floor, Boston, MA, 02215-1204, USA
2. Department of Neurology, University Hospital Essen, Essen, Germany
文摘
Cluster headache (CH) is a rare, excruciating primary headache disorder. A genetic basis has been suggested by family and twin studies, but the mode of transmission seems to vary and the amount of heritability is unclear. The number of genetic association studies investigating variants implicated in the pathophysiology of CH is limited. The HCRTR2 1246G-gt;?A and the ADH4 925A-gt;?G polymorphisms have been associated with CH. The former has been confirmed and may affect the hypothalamic hypocretin system. However, it only appears to account for a part of the genetic susceptibility for CH, and additional genetic and environmental factors are likely implicated. Pharmacogenetic studies have suggested that the GNB3 825C-gt;?T polymorphism may modify treatment response to triptans among CH patients by altering the signal transduction cascade via G protein–coupled receptors. Genetic studies in CH are notoriously difficult due to the complex nature of the disorder and the low prevalence of CH.