Significant linkage to migrane with aura on chromosome 11q24

Human Molecular Genetics

Volumn 12, Issue 19, 2003, Pages 2511-2517

  Cader, Zameel M ^a   Noble Topham, Sandra ^b   Dyment, David A ^a   Cherny, Stacey S ^a   Brown, John D ^b   Rice, George P A ^b   Ebers, George C ^c  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b LONDON HEALTH SCIENCES CENTRE   (Canada)

^c UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); CALCIUM CHANNEL; MICROSATELLITE DNA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CANADA; CHROMOSOME 11Q; CHROMOSOME 19P; CHROMOSOME 1Q; CHROMOSOME 4Q; CHROMOSOME XQ; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; EVIDENCE BASED MEDICINE; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MIGRAINE; PREVALENCE; PRIORITY JOURNAL; SCORING SYSTEM; CHROMOSOME 11; CHROMOSOME MAP; DOMINANT GENE; GENETIC PREDISPOSITION; GENETICS; GENOME; HETEROZYGOTE; MIGRAINE WITH AURA; PEDIGREE; SEX RATIO; STATISTICS; TRINUCLEOTIDE REPEAT;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; GENES, DOMINANT; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOME, HUMAN; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MICROSATELLITE REPEATS; MIGRAINE WITH AURA; PEDIGREE; SEX RATIO; STATISTICS; TRINUCLEOTIDE REPEATS;

EID: 0141730254     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg252     Document Type: Article

References (63)

1. Launer, L.J., Terwindt, G.M. and Ferrari, M.D. (1999) The prevalence and characteristics of migraine in a population-based cohort. Neurology, 53, 537-542.
2. Headache Classification Committee of The International Headache Society. (1988) Classification and diagnostic criteria for headache disorders, cranial neuralgias and facial pain. Cephalalgia, 8, 1-96.
3. Russell, M.B., Rasmussen, B.K., Thorvaldsen, P. and Olesen, J. (1995) Prevalence and sex ratio of the subtypes of migraine. Int. J. Epidemiol., 24, 612-618.
4. Russell, M.B. and Olesen, J. (1995) Increased familial risk and evidence of genetic factor in migraine. Br. Med. J., 311, 541-544.
5. Ulrich, V., Gervil, M., Kyvik, K.O., Olesen, J. and Russell, M.B. (1999) Evidence of a genetic factor in migraine with aura: a population-based Danish twin study. Ann. Neurol., 45, 242-246.
6. Russell, M.B., Iselius, L. and Olesen, J. (1995) Inheritance of migraine investigated by complex segregation analysis. Hum. Genet., 96, 726-730.
7. Baloh, R.W. and Jen, J.C. (2002) Genetics of familial episodic vertigo and ataxia. Ann. NY Acad. Sci., 956, 338-345.
8. Dichgans, M., Mayer, M., Uttner, I., Bruning, R., Muller-Hocker, J., Rungger, G., Ebke, M., Klockgether, T. and Gasser, T. (1998) The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann. Neurol., 44, 731-739.
9. Carrera, P., Stenirri, S., Ferrari, M. and Battistini, S. (2001) Familial hemiplegic migraine: an ion channel disorder. Brain. Res. Bull., 56, 239-241.
10. Wessman, M., Kallela, M., Kaunisto, M.A., Marttila, R, Sobel, E., Hartiala, J., Oswell, G., Leal, S.M., Pappm, J.C., Hamalainen, E. et al. (2002) A susceptibility locus for migraine with aura, on chromosome 4q24. Am. J. Hum. Genet., 70, 652-662.
11. 2+ channel gene CACNL1A4. Cell, 87, 543-552.
12. De Fusco, M., Marconi, R., Silvestri, L., Atorino, L., Rampoldi, L., Morgante, L., Ballabio, A., Aridon, P. and Casari, G. (2003) Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet., 33, 192-196.
13. Lea, R.A., Shepherd, A.G., Curtain, R.P., Nyholt, D.R., Quinlan, S., Brimage, P.J. and Griffiths, L.R. (2002) A typical migraine susceptibility region localizes to chromosome 1q31. Neurogenetics, 4, 17-22.
14. Nyholt, D.R., Curtain, R.P. and Griffiths, L.R. (2000) Familial typical migraine: significant linkage and localization of a gene to Xq24-28. Hum. Genet., 107, 18-23.
15. Nyholt, D.R., Lea, R.A., Goadsby, P.J., Brimage, P.J. and Griffiths, L.R. (1998) Familial typical migraine: linkage to chromosome 19p13 and evidence for genetic heterogeneity. Neurology, 50, 1428-1432.
16. Terwindt, G.M., Ophoff R.A., van Eijk, R., Vergouwe, M.N., Haan, J., Frants, R.R., Sandkujl, L.A. and Ferrari, M.D. (2001) Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura. Neurology, 56, 1028-1032.
17. Kallela, M., Wessman, M., Havanka, H., Palotie, A. and Farkkila, M. (2001) Familial migraine with and without aura: clinical characteristics and co-occurrence. Eur. J. Neurol., 8, 441-449.
18. Russell, M.B., Rasmussen, B.K., Fenger, K. and Olesen, J. (1996) Migraine without aura and migraine with aura are distinct clinical entities: a study of four hundred and eighty-four male and female migraineurs from the general population. Cephalalgia, 16, 239-245.
19. Ebers, G.C., Kukay, K., Bulman, D.E., Sadovnick, A.D., Rice, G., Anderson, C., Armstrong, H., Cousin, K., Bell, R.B., Hader, W. et al. (1996) A full genome search in multiple sclerosis. Nat. Genet., 13, 472-476.
20. Weeks, D.E., Ott, J. and Lathrop, G.M. (1990) SLINK: a general simulation program for linkage analysis. Am. J. Hum. Genet., 47, A204.
21. Ott, J. (1989) Computer-simulation methods in human linkage analysis. Proc. Natl Acad. Sci. USA, 86, 4175-4178.
22. Montagna, P., Gallassi, R., Medori, R., Govoni, E., Zeviani, M., Di Mauro, S., Lugaresi, E. and Andermann, F. (1988) MELAS syndrome, characteristic migrainous and epileptic features and maternal transmission. Neurology, 38, 751-755.
23. Montagna, P., Sacquegna, T., Cortelli, P. and Lugaresi, E. (1989) Migraine as a defect of brain oxidative metabolism: a hypothesis. J. Neurol., 236, 123-128.
24. Ceroni, M., Poloni, T.E., Tonietti, S., Fabozzi, D., Uggetti, C., Frediani, F., Simonetti, F., Malaspina, A., Alimonti, D., Celano, M., Ferrari, M. and Carrera, P. (2000) Migraine with aura and white matter abnormalities: Notch3 mutation. Neurology, 54, 1869-1871.
25. Klopstock, T., May, A., Seibel, P., Papagiannuli, E., Diener, H.C. and Reichmann, H. (1996) Mitochondrial DNA in migraine with aura. Neurology, 46, 1735-1743.
26. Haan, J., Terwindt, G.M., Maassen, J.A., Hart, L.M., Frants, R.R. and Ferrari, M.D. (1999) Search for mitochondrial DNA mutations in migraine subgroups. Cephalalgia, 19, 20-22.
27. Joutel, A., Bousser, M.G., Biousse, V., Labauge, P., Chabriat, H., Nibbio, A., Maciazek, J., Meyer, B., Bach, M.A., Weissenbach, J. et al. (1993) A gene for familial hemiplegic migraine maps to chromosome 19. Nat. Genet., 5, 40-45.
28. Hans, M., Luvisetto, S., Williams, M.E., Spagnolo, M., Urrutia, A., Tottene, A., Brust, P.F., Johnson, E.C., Harpold, M.M., Stauderman, K.A. and Pietrobon, D. (1999) Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine. J. Neurosci., 19, 1610-1619.
29. Zhuchenko, O., Bailey, J., Bonnen, P., Ashizawa, T., Stockton, D.W., Amos, C., Dobyns, W.B., Subramony, S.H., Zoghbi, H.Y. and Lee, C.C. (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha IA-voltage-dependent calcium channel. Nat. Genet., 15, 62-71.
30. Tournier-Lasserve, E. (1999) CACNAIA mutations: hemiplegic migraine, episodic ataxia type 2, and the others. Neurology, 53, 3-7.
31. Terwindt, G.M., Ophoff R.A., Haan, J., Sandkuijl, L.A., Frants, R.R. and Ferrari, M.D. (1998) Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies. Eur. J. Hum. Genet., 6, 297-307.
32. Terwindt, G.M., Ophoff R.A., Haan, J., Vergouwe, M.N., van Eijk, R., Frants, R.R. and Ferrari, M.D. (1998) Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine. Neurology, 50, 1105-1110.
33. Hovatta, I., Kallela, M., Farrkila, M. and Peltonen, L. (1994) Familial migraine: exclusion of the susceptibility gene from the reported locus of familial hemiplegic migraine on 19p. Genomics, 23, 707-716.
34. Monari, L., Mochi, M. and Valentino, M.L. (1997) Searching for migraine genes: exclusion of 290 cM out of the whole human genome. Ital. J. Neurol. Sci., 1, 277-282.
35. Noble-Topham, S.E., Dyment, D.A., Cader, M.Z., Ganapathy, R., Brown, J.D., Rice, G.P. and Ebers, G.C. (2002) Migraine with aura is not linked to the FHM gene CACNA1A or the chromosomal region, 19p13. Neurology, 59, 1099-1101.
36. Gardner, K., Barmada, M.M., Ptacek, L.J. and Hoffman, E.P. (1997) A new locus for hemiplegic migraine maps to chromosome 1q31. Neurology, 49, 1231-1238.
37. Ducros, A., Joutel, A., Vahedi, K., Cecillon, M., Ferreira, A., Bernard, E., Verier, A., Echenne, B., Lopez de Munain, A., Bousser, M.G. and Tournier-Lasserve, E. (1997) Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity. Ann. Neurol., 42, 885-890.
38. Noble-Topham, S.E., Cader, M.Z., Dyment, D.A., Rice, G.P.A., Brown, J.D. and Ebers, G.C. (2003) Genetic loading in familial migraine with aura. J. Neurol. Neurosurg. Psychiat., 74, 1128-1130.
39. Newman, B., Austin, M.A., Lee, M. and King, M.-C. (1988) Inheritance of human breast cancer: Evidence for autosomal dominant transmission in high-risk families. Proc. Natl Acad. Sci. USA, 85, 3044-3048.
40. Tanzil, R.E. and Bertram, L. (2001) Alzheimer's disease genetics. Neuron, 32, 181-184.
41. Risch, N. and Giuffra, L. (1992) Model misspecification and multi-point linkage analysis. Hum. Hered., 42, 7792.
42. Ashcroft, F.M. (2000) Ion Channels and Disease. Academic Press, San Diego, CA.
43. James, M.F., Smith, J.M., Boniface, S.J., Huang, C.L. and Leslie, R.A. (2001) Cortical spreading depression and migraine: new insights from imaging? Trends Neurosci., 24, 266-271.
44. Krishnan, S.N., Desai, T., Ward, D.C. and Haddad, G.G. (1995) Isolation and chromosomal localization of a human ATP-regulated potassium channel. Hum. Genet., 96, 155-160.
45. + channel (GIRK4) from human hippocampus associates with other GIRK channels. J. Neurosci., 16, 930-938.
46. Kullmann, D.M. (2002) The neuronal channelopathies. Brain, 125, 1177-1195.
47. + channel distribution in the nervous system. Trends Neurosci., 24, 473-478.
48. Lerma, J., Paternain, A.V., Rodriguez-Moreno, A. and Lopez-Garcia, J.C. (2001) Molecular physiology of kainate receptors. Physiol. Rev., 81, 971-998.
49. Steiner, T.J., Findley, L.J. and Yuen, A.W. (1997) Lamotrigine versus placebo in the prophylaxis of migraine with and without aura. Cephalalgia, 17, 109-112.
50. Tzourio, C., El Amrani, M., Poirier, O., Nicaud, V., Bousser, M.G. and Alperovitch, A. (2001) Association between migraine and endothelin type A receptor (ETA -231 A/G) gene polymorphism. Neurology, 56, 1273-1277.
51. Peroutka, S.J., Wilhoit, T. and Jones, K. (1997) Clinical susceptibility to migraine with aura is modified by dopamine D2 receptor (DRD2) NcoI alleles. Neurology, 49, 201-206.
52. Lea, R.A., Dohy, A., Jordan, K., Quinlan, S., Brimage, P.J. and Griffiths, L.R. (2000) Evidence for allelic association of the dopamine beta-hydroxylase gene (DBH) with susceptibility to typical migraine. Neurogenetics, 3, 35-40.
53. Ogilvie, A.D., Russell, M.B., Dhall, P., Battersby, S., Ulrich, V., Smith, C.A., Goodwin, G.M., Harmar, A.J. and Olesen, J. (1998) Altered allelic distributions of the serotonin transporter gene in migraine without aura and migraine with aura. Cephalalgia, 18, 23-26.
54. Weber, J.L. and Broman, K.W. (2001) Genotyping for human whole-genome scans: past, present, and future. Adv. Gen., 42, 77-96.
55. Yuan, B., Vaske, D., Weber, J.L., Beck, J. and Sheffield, V.C. (1997) Improved set of short-tandem-repeat polymorphisms for screening the human genome. Am. J. Hum. Genet., 60, 459-460.
56. Broman, K.W., Murray, J.C., Sheffield, V.C., White, R.L. and Weber, J.L. (1998) Comprehensive human genetic maps: individual and sex-specific variation in recombination. (2001) Am. J. Hum. Genet., 63, 861-689.
57. Abecasis, G.R., Cherny, S.S., Cookson, W.O. and Cardon, L.R. (2001) GRR: graphical representation of relationship errors. Bioinformatics, 17, 742-743.
58. O'Connell, J.R. and Weeks, D.E. (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am. J. Hum. Genet., 63, 259-266.
59. Cottingham, R.W., Jr, Idury, R.M. and Schaeffer, A.A. (1993) Faster sequential genetic linkage computations. Am. J. Hum. Genet., 53, 252-263.
60. Lathrop, G.M., Lalouel, J.M., Julier, C. and Ott, J. (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am. J. Hum. Genet., 37, 482-498.
61. Sobel, E. and Lange, K. (1996) Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker sharing statistics. Am. J. Hum. Genet., 58, 1323-1337.
62. Kruglyak, L., Daly, M.J., Reeve-Daly, M.P. and Lander, E.S. (1996) Parametric and non-parametric linkage analysis: a unified approach. Am. J. Hum. Genet., 58, 1347-1363.
63. Kong, A. and Cox, N.J. (1997) Allele-sharing models: LOD scores and accurate linkage tests. Am. J. Hum. Genet., 61, 1179-1188.