An x chromosome association scan of the norfolk island genetic isolate provides evidence for a novel migraine susceptibility locus at xq12

PLoS ONE

Volumn 7, Issue 5, 2012, Pages

  Maher, Bridget H ^a   Lea, Rod A ^a   Benton, Miles ^a   Cox, Hannah C ^a   Bellis, Claire ^a,b   Carless, Melanie ^b   Dyer, Thomas D ^b   Curran, Joanne ^b   Charlesworth, Jac C ^b,c   Buring, Julie E ^d   Kurth, Tobias ^d,e,f   Chasman, Daniel I ^d   Ridker, Paul M ^d   Schürks, Markus ^d,e   Blangero, John ^b   Griffiths, Lyn R ^a  

^a GRIFFITH UNIVERSITY   (Australia)

^b SOUTHWEST FOUNDATION FOR BIOMEDICAL RESEARCH   (United States)

^c UNIVERSITY OF TASMANIA   (Australia)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e UNIVERSITY HOSPITAL ESSEN   (Germany)

^f INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

HEPHAESTIN;

5' UNTRANSLATED REGION; ADULT; ARTICLE; BLOOD SAMPLING; CHROMOSOME XQ; CONTROLLED STUDY; FEMALE; GENE; GENE CLUSTER; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC ISOLATION BY DISTANCE; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HEPH GENE; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MIGRAINE; NORFOLK ISLAND; PEDIGREE; PREVALENCE; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; MELANESIA; MIDDLE AGED; NUCLEOTIDE SEQUENCE; REPRODUCIBILITY; X CHROMOSOMAL INHERITANCE;

BASE SEQUENCE; CHROMOSOMES, HUMAN, X; FEMALE; GENES, X-LINKED; GENETIC LOCI; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MALE; MELANESIA; MIDDLE AGED; MIGRAINE DISORDERS; PEDIGREE; REPRODUCIBILITY OF RESULTS;

EID: 84861552860     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0037903     Document Type: Article

References (27)

1. Lipton RB, Bigal ME, Diamond M, Freitag F, Reed ML, et al. (2007) Migraine prevalence, disease burden, and the need for preventive therapy. Neurology 68: 343-349.
2. Stovner LJ, Zwart JA, Hagen K, Terwindt GM, Pascual J, (2006) Epidemiology of headache in Europe. Eur J Neurol 13: 333-345.
3. Mulder EJ, Van Baal C, Gaist D, Kallela M, Kaprio J, et al. (2003) Genetic and environmental influences on migraine: a twin study across six countries. Twin Res 6: 422-431.
4. 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: 235-244.
5. Hoare M, (1999) Norfolk Island: A revised and enlarged History 1774-1998. Rockhampton Central Queensland University Press.
6. Bellis C, Cox HC, Dyer TD, Charlesworth JC, Begley KN, et al. (2008) Linkage mapping of CVD risk traits in the isolated Norfolk Island population. Hum Genet 124: 543-552.
7. Cox HC, Lea RA, Bellis C, Nyholt DR, Dyer TD, et al. (2012) Heritability and genome-wide linkage analysis of migraine in the genetic isolate of Norfolk Island. Gene 494: 119-123.
8. Maher BH, Kerr M, Cox HC, Macmillan JC, Brimage PJ, et al. (2012) Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort. Neurogenetics.
9. Nyholt DR, Curtain RP, Griffiths LR, (2000) Familial typical migraine: significant linkage and localization of a gene to Xq24-28. Hum Genet 107: 18-23.
10. Nyholt DR, Dawkins JL, Brimage PJ, Goadsby PJ, Nicholson GA, et al. (1998) Evidence for an X-linked genetic component in familial typical migraine. Hum Mol Genet 7: 459-463.
11. Wieser T, Pascual J, Oterino A, Soso M, Barmada M, et al. (2010) A novel locus for familial migraine on Xp22. Headache 50: 955-962.
12. Almasy L, Blangero J, (1998) Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 62: 1198-1211.
13. Chasman DI, Schurks M, Anttila V, de Vries B, Schminke U, et al. (2011) Genome-wide association study reveals three susceptibility loci for common migraine in the general population. Nat Genet 43: 695-698.
14. He JQ, Wiesmann C, van Lookeren Campagne M, (2008) A role of macrophage complement receptor CRIg in immune clearance and inflammation. Mol Immunol 45: 4041-4047.
15. Hudson DM, Curtis SB, Smith VC, Griffiths TA, Wong AY, et al. (2010) Human hephaestin expression is not limited to enterocytes of the gastrointestinal tract but is also found in the antrum, the enteric nervous system, and pancreatic {beta}-cells. Am J Physiol Gastrointest Liver Physiol 298: G425-432.
16. Qian ZM, Chang YZ, Zhu L, Yang L, Du JR, et al. (2007) Development and iron-dependent expression of hephaestin in different brain regions of rats. J Cell Biochem 102: 1225-1233.
17. Hahn P, Qian Y, Dentchev T, Chen L, Beard J, et al. (2004) Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration. Proc Natl Acad Sci U S A 101: 13850-13855.
18. IHS, (2004) The International Classification of the Headache Disorders 2nd ed. Cephalalgia 24(Suppl 1): 1-150.
19. Miller SA, Dykes DD, Polesky HF, (1988) A simple salting out procedure for extracting DNA from Human Nucleated cells. Nucleic Acid Reseach 16: 1215.
20. Bellis C, Hughes RM, Begley KN, Quinlan S, Lea RA, et al. (2005) Phenotypical characterisation of the isolated norfolk island population focusing on epidemiological indicators of cardiovascular disease. Hum Hered 60: 211-219.
21. Macgregor S, Bellis C, Lea RA, Cox H, Dyer T, et al. (2009) Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk Island. Eur J Hum Genet 18: 67-72.
22. McEvoy BP, Zhao ZZ, Macgregor S, Bellis C, Lea RA, et al. (2010) European and Polynesian admixture in the Norfolk Island population. Heredity (Edinb) 105: 229-234.
23. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
24. Gao X, Becker LC, Becker DM, Starmer JD, Province MA, (2010) Avoiding the high Bonferroni penalty in genome-wide association studies. Genet Epidemiol 34: 100-105.
25. Ge D, Zhang K, Need AC, Martin O, Fellay J, et al. (2008) WGAViewer: software for genomic annotation of whole genome association studies. Genome Res 18: 640-643.
26. Barrett JC, Fry B, Maller J, Daly MJ, (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
27. Ridker PM, Chasman DI, Zee RY, Parker A, Rose L, et al. (2008) Rationale, design, and methodology of the Women's Genome Health Study: a genome-wide association study of more than 25,000 initially healthy american women. Clin Chem 54: 249-255.