Advance in genetics of migraine

被引：66

作者：

de Boer, Irene ^{[1
]}

van den Maagdenberg, Arn M. J. M. ^{[1
,2
]}

Terwindt, Gisela M. ^{[1
]}

机构：

[1] Leiden Univ, Med Ctr, Dept Neurol, Albinusdreef 2,POB 9600, NL-2300 RC Leiden, Netherlands

[2] Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands

来源：

CURRENT OPINION IN NEUROLOGY | 2019年 / 32卷 / 03期

关键词：

depression; genetics; genome-wide association study; hemiplegic migraine; migraine; GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; HEMIPLEGIC MIGRAINE; METAANALYSIS; AURA; COMORBIDITY; PREVALENCE; HEADACHE; SPECTRUM; VARIANT;

D O I：

10.1097/WCO.0000000000000687

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Purpose of review Migraine is a primary headache disorder and one of the most common and disabling neurological diseases worldwide. Genome-wide association studies have identified approximate to 40 genetic loci associated with migraine. How these and other genetic findings are used to expand our knowledge on the pathophysiological mechanism of common migraine and rare migraine variants will be discussed. Recent findings The genetic load, based on common polygenic variation, is higher in familial migraine cases than in nonfamilial cases, and higher for migraine with aura and hemiplegic migraine. Migraine shares common genetic variant risks with depression. Specific clinical features of common migraine seem to be determined by genetic factors. A stronger family history of migraine is associated with lower age-at-onset, higher frequency and number of medication days and the migraine with aura subtype. Mild hemiplegic migraine is likely caused by complex polygenic interaction of multiple gene variants and environmental factors, like in common migraine subtypes. Phenotypical features in hemiplegic migraine patients may guide physicians in providing adequate genetic counseling. Summary Integration of genetic, phenotypic and epigenetic data will help to identify the biological mechanisms by which genetic factors contribute to migraine pathogenesis. Recent studies show the impact of genetics on clinical features and comorbidities in migraine and may guide clinicians to an adequate genetic advice for patients.

引用

页码：413 / 421

页数：9

共 37 条

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Bulik-Sullivan, Brendan ;

Finucane, Hilary K. ;

Walters, Raymond K. ;

Bras, Jose ;

Duncan, Laramie ;

Escott-Price, Valentina ;

Falcone, Guido J. ;

Gormley, Padhraig ;

Malik, Rainer ;

Patsopoulos, Nikolaos A. ;

Ripke, Stephan ;

Wei, Zhi ;

Yu, Dongmei ;

Lee, Phil H. ;

Turley, Patrick ;

Grenier-Boley, Benjamin ;

Chouraki, Vincent ;

Kamatani, Yoichiro ;

Berr, Claudine ;

Letenneur, Luc ;

Hannequin, Didier ;

Amouyel, Philippe ;

Boland, Anne ;

Deleuze, Jean-Francois ;

Duron, Emmanuelle ;

Vardarajan, Badri N. ;

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Rogaeva, Ekaterina ;

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Beach, Thomas G. ;

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Jicha, Gregory A. ;

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Winsvold, Bendik S. ;

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Kurth, Tobias ;

Bettella, Francesco ;

McMahon, George ;

Kallela, Mikko ;

Malik, Rainer ;

de Vries, Boukje ;

Terwindt, Gisela ;

Medland, Sarah E. ;

Todt, Unda ;

McArdle, Wendy L. ;

Quaye, Lydia ;

Koiranen, Markku ;

Ikram, M. Arfan ;

Lehtimaki, Terho ;

Stam, Anine H. ;

Ligthart, Lannie ;

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Weller, Claudia M. ;

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Borck, Guntram ;

Goebel, Hartmut ;

Heinze, Axel .

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Anttila, Verneri ;

Stefansson, Hreinn ;

Kallela, Mikko ;

Todt, Unda ;

Terwindt, Gisela M. ;

Calafato, M. Stella ;

Nyholt, Dale R. ;

Dimas, Antigone S. ;

Freilinger, Tobias ;

Mueller-Myhsok, Bertram ;

Artto, Ville ;

Inouye, Michael ;

Alakurtti, Kirsi ;

Kaunisto, Mari A. ;

Haemaelaeinen, Eija ;

de Vries, Boukje ;

Stam, Anine H. ;

Weller, Claudia M. ;

Heinze, Axel ;

Heinze-Kuhn, Katja ;

Goebel, Ingrid ;

Borck, Guntram ;

Goebel, Hartmut ;

Steinberg, Stacy ;

Wolf, Christiane ;

Bjoernsson, Asgeir ;

Gudmundsson, Gretar ;

Kirchmann, Malene ;

Hauge, Anne ;

Werge, Thomas ;

Schoenen, Jean ;

Eriksson, Johan G. ;

Hagen, Knut ;

Stovner, Lars ;

Wichmann, Erich ;

Meitinger, Thomas ;

Alexander, Michael ;

Moebus, Susanne ;

Schreiber, Stefan ;

Aulchenko, Yurii S. ;

Breteler, Monique M. B. ;

Uitterlinden, Andre G. ;

Hofman, Albert ;

van Duijn, Cornelia M. ;

Tikka-Kleemola, Paevi ;

Vepsaelaeinen, Salli ;

Lucae, Susanne ;

Tozzi, Federica ;

Muglia, Pierandrea ;

Barrett, Jeffrey .

NATURE GENETICS, 2010, 42 (10) :869-+

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Chasman, Daniel I. ;

Schuerks, Markus ;

Anttila, Verneri ;

de Vries, Boukje ;

Schminke, Ulf ;

Launer, Lenore J. ;

Terwindt, Gisela M. ;

van den Maagdenberg, Arn M. J. M. ;

Fendrich, Konstanze ;

Voelzke, Henry ;

Ernst, Florian ;

Griffiths, Lyn R. ;

Buring, Julie E. ;

Kallela, Mikko ;

Freilinger, Tobias ;

Kubisch, Christian ;

Ridker, Paul M. ;

Palotie, Aarno ;

Ferrari, Michel D. ;

Hoffmann, Wolfgang ;

Zee, Robert Y. L. ;

Kurth, Tobias .

NATURE GENETICS, 2011, 43 (07) :695-U116

[5] The evolving spectrum of PRRT2-associated paroxysmal diseases [J].

Ebrahimi-Fakhari, Darius ;

Saffari, Afshin ;

Westenberger, Ana ;

Klein, Christine .

BRAIN, 2015, 138 :3476-3495

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Ferrari, Michel D. ;

Klever, Roselin R. ;

Terwindt, Gisela M. ;

Ayata, Cenk ;

van den Maagdenberg, Arn M. J. M. .

LANCET NEUROLOGY, 2015, 14 (01) :65-80

[7] Genome-wide association analysis identifies susceptibility loci for migraine without aura [J].

Freilinger, Tobias ;

Anttila, Verneri ;

de Vries, Boukje ;

Malik, Rainer ;

Kallela, Mikko ;

Terwindt, Gisela M. ;

Pozo-Rosich, Patricia ;

Winsvold, Bendik ;

Nyholt, Dale R. ;

van Oosterhout, Willebrordus P. J. ;

Artto, Ville ;

Todt, Unda ;

Hamalainen, Eija ;

Fernandez-Morales, Jessica ;

Louter, Mark A. ;

Kaunisto, Mari A. ;

Schoenen, Jean ;

Raitakari, Olli ;

Lehtimaki, Terho ;

Vila-Pueyo, Marta ;

Goebel, Hartmut ;

Wichmann, Erich ;

Sintas, Celia ;

Uitterlinden, Andre G. ;

Hofman, Albert ;

Rivadeneira, Fernando ;

Heinze, Axel ;

Tronvik, Erling ;

van Duijn, Cornelia M. ;

Kaprio, Jaakko ;

Cormand, Bru ;

Wessman, Maija ;

Frants, Rune R. ;

Meitinger, Thomas ;

Mueller-Myhsok, Bertram ;

Zwart, John-Anker ;

Farkkila, Markus ;

Macaya, Alfons ;

Ferrari, Michel D. ;

Kubisch, Christian ;

Palotie, Aarno ;

Dichgans, Martin ;

van den Maagdenberg, Arn M. J. M. .

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Abdulle, Abdishakur M. ;

Abebo, Teshome Abuka ;

Abera, Semaw Ferede ;

Aboyans, Victor ;

Abu-Raddad, Laith J. ;

Ackerman, Ilana N. ;

Adamu, Abdu Abdullahi ;

Adetokunboh, Olatunji ;

Afarideh, Mohsen ;

Afshin, Ashkan ;

Agarwal, Sanjay Kumar ;

Aggarwal, Rakesh ;

Agrawal, Anurag ;

Agrawal, Sutapa ;

Kiadaliri, Aliasghar Ahmad ;

Ahmadieh, Hamid ;

Ahmed, Muktar Beshir ;

Aichour, Amani Nidhal ;

Aichour, Ibtihel ;

Aichour, Miloud Taki Eddine ;

Aiyar, Sneha ;

Akinyemi, Rufus Olusola ;

Akseer, Nadia ;

Al Lami, Faris Hasan ;

Alahdab, Fares ;

Al-Aly, Ziyad ;

Alam, Khurshid ;

Alam, Noore ;

Alam, Tahiya ;

Alasfoor, Deena ;

Alene, Kefyalew Addis ;

Ali, Raghib ;

Alizadeh-Navaei, Reza ;

Alkerwi, Ala'a ;

Alla, Francois ;

Allebeck, Peter ;

Allen, Christine ;

Al-Maskari, Fatma ;

Al-Raddadi, Rajaa ;

Alsharif, Ubai ;

Alsowaidi, Shirina ;

Altirkawi, Khalid A. ;

Amare, Azmeraw T. ;

Amini, Erfan .

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[10] Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine [J].

Gormley, Padhraig ;

Anttila, Verneri ;

Winsvold, Bendik S. ;

Palta, Priit ;

Esko, Tonu ;

Pers, Tune H. ;

Farh, Kai-How ;

Cuenca-Leon, Ester ;

Muona, Mikko ;

Furlotte, Nicholas A. ;

Kurth, Tobias ;

Ingason, Andres ;

McMahon, George ;

Ligthart, Lannie ;

Terwindt, Gisela M. ;

Kallela, Mikko ;

Freilinger, Tobias M. ;

Ran, Caroline ;

Gordon, Scott G. ;

Stam, Anine H. ;

Steinberg, Stacy ;

Borck, Guntram ;

Koiranen, Markku ;

Quaye, Lydia ;

Adams, Hieab H. H. ;

Lehtimaki, Terho ;

Sarin, Antti-Pekka ;

Wedenoja, Juho ;

Hinds, David A. ;

Buring, Julie E. ;

Schurks, Markus ;

Ridker, Paul M. ;

Hrafnsdottir, Maria Gudlaug ;

Stefansson, Hreinn ;

Ring, Susan M. ;

Hottenga, Jouke-Jan ;

Penninx, Brenda W. J. H. ;

Farkkila, Markus ;

Artto, Ville ;

Kaunisto, Mari ;

Vepsalainen, Salli ;

Malik, Rainer ;

Heath, Andrew C. ;

Madden, Pamela A. F. ;

Martin, Nicholas G. ;

Montgomery, Grant W. ;

Kurki, Mitja I. ;

Kals, Mart ;

Magi, Reedik ;

Parn, Kalle .

NATURE GENETICS, 2016, 48 (08) :856-+

← 1 2 3 4 →

共 37 条

[1] Analysis of shared heritability in common disorders of the brain [J].

Anttila, Verneri ;

Bulik-Sullivan, Brendan ;

Finucane, Hilary K. ;

Walters, Raymond K. ;

Bras, Jose ;

Duncan, Laramie ;

Escott-Price, Valentina ;

Falcone, Guido J. ;

Gormley, Padhraig ;

Malik, Rainer ;

Patsopoulos, Nikolaos A. ;

Ripke, Stephan ;

Wei, Zhi ;

Yu, Dongmei ;

Lee, Phil H. ;

Turley, Patrick ;

Grenier-Boley, Benjamin ;

Chouraki, Vincent ;

Kamatani, Yoichiro ;

Berr, Claudine ;

Letenneur, Luc ;

Hannequin, Didier ;

Amouyel, Philippe ;

Boland, Anne ;

Deleuze, Jean-Francois ;

Duron, Emmanuelle ;

Vardarajan, Badri N. ;

Reitz, Christiane ;

Goate, Alison M. ;

Huentelman, Matthew J. ;

Kamboh, M. Ilyas ;

Larson, Eric B. ;

Rogaeva, Ekaterina ;

St George-Hyslop, Peter ;

Hakonarson, Hakon ;

Kukull, Walter A. ;

Farrer, Lindsay A. ;

Barnes, Lisa L. ;

Beach, Thomas G. ;

Demirci, F. Yesim ;

Head, Elizabeth ;

Hulette, Christine M. ;

Jicha, Gregory A. ;

Kauwe, John S. K. ;

Kaye, Jeffrey A. ;

Leverenz, James B. ;

Levey, Allan I. ;

Lieberman, Andrew P. ;

Pankratz, Vernon S. ;

Poon, Wayne W. .

SCIENCE, 2018, 360 (6395) :1313-+

[2] Genome-wide meta-analysis identifies new susceptibility loci for migraine [J].

Anttila, Verneri ;

Winsvold, Bendik S. ;

Gormley, Padhraig ;

Kurth, Tobias ;

Bettella, Francesco ;

McMahon, George ;

Kallela, Mikko ;

Malik, Rainer ;

de Vries, Boukje ;

Terwindt, Gisela ;

Medland, Sarah E. ;

Todt, Unda ;

McArdle, Wendy L. ;

Quaye, Lydia ;

Koiranen, Markku ;

Ikram, M. Arfan ;

Lehtimaki, Terho ;

Stam, Anine H. ;

Ligthart, Lannie ;

Wedenoja, Juho ;

Dunham, Ian ;

Neale, Benjamin M. ;

Palta, Priit ;

Hamalainen, Eija ;

Schuerks, Markus ;

Rose, Lynda M. ;

Buring, Julie E. ;

Ridker, Paul M. ;

Steinberg, Stacy ;

Stefansson, Hreinn ;

Jakobsson, Finnbogi ;

Lawlor, Debbie A. ;

Evans, David M. ;

Ring, Susan M. ;

Farkkila, Markus ;

Artto, Ville ;

Kaunisto, Mari A. ;

Freilinger, Tobias ;

Schoenen, Jean ;

Frants, Rune R. ;

Pelzer, Nadine ;

Weller, Claudia M. ;

Zielman, Ronald ;

Heath, Andrew C. ;

Madden, Pamela A. F. ;

Montgomery, Grant W. ;

Martin, Nicholas G. ;

Borck, Guntram ;

Goebel, Hartmut ;

Heinze, Axel .

NATURE GENETICS, 2013, 45 (08) :912-U255

[3] Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1 [J].

Anttila, Verneri ;

Stefansson, Hreinn ;

Kallela, Mikko ;

Todt, Unda ;

Terwindt, Gisela M. ;

Calafato, M. Stella ;

Nyholt, Dale R. ;

Dimas, Antigone S. ;

Freilinger, Tobias ;

Mueller-Myhsok, Bertram ;

Artto, Ville ;

Inouye, Michael ;

Alakurtti, Kirsi ;

Kaunisto, Mari A. ;

Haemaelaeinen, Eija ;

de Vries, Boukje ;

Stam, Anine H. ;

Weller, Claudia M. ;

Heinze, Axel ;

Heinze-Kuhn, Katja ;

Goebel, Ingrid ;

Borck, Guntram ;

Goebel, Hartmut ;

Steinberg, Stacy ;

Wolf, Christiane ;

Bjoernsson, Asgeir ;

Gudmundsson, Gretar ;

Kirchmann, Malene ;

Hauge, Anne ;

Werge, Thomas ;

Schoenen, Jean ;

Eriksson, Johan G. ;

Hagen, Knut ;

Stovner, Lars ;

Wichmann, Erich ;

Meitinger, Thomas ;

Alexander, Michael ;

Moebus, Susanne ;

Schreiber, Stefan ;

Aulchenko, Yurii S. ;

Breteler, Monique M. B. ;

Uitterlinden, Andre G. ;

Hofman, Albert ;

van Duijn, Cornelia M. ;

Tikka-Kleemola, Paevi ;

Vepsaelaeinen, Salli ;

Lucae, Susanne ;

Tozzi, Federica ;

Muglia, Pierandrea ;

Barrett, Jeffrey .

NATURE GENETICS, 2010, 42 (10) :869-+

[4] Genome-wide association study reveals three susceptibility loci for common migraine in the general population [J].

Chasman, Daniel I. ;

Schuerks, Markus ;

Anttila, Verneri ;

de Vries, Boukje ;

Schminke, Ulf ;

Launer, Lenore J. ;

Terwindt, Gisela M. ;

van den Maagdenberg, Arn M. J. M. ;

Fendrich, Konstanze ;

Voelzke, Henry ;

Ernst, Florian ;

Griffiths, Lyn R. ;

Buring, Julie E. ;

Kallela, Mikko ;

Freilinger, Tobias ;

Kubisch, Christian ;

Ridker, Paul M. ;

Palotie, Aarno ;

Ferrari, Michel D. ;

Hoffmann, Wolfgang ;

Zee, Robert Y. L. ;

Kurth, Tobias .

NATURE GENETICS, 2011, 43 (07) :695-U116

[5] The evolving spectrum of PRRT2-associated paroxysmal diseases [J].

Ebrahimi-Fakhari, Darius ;

Saffari, Afshin ;

Westenberger, Ana ;

Klein, Christine .

BRAIN, 2015, 138 :3476-3495

[6] Migraine pathophysiology: lessons from mouse models and human genetics [J].

Ferrari, Michel D. ;

Klever, Roselin R. ;

Terwindt, Gisela M. ;

Ayata, Cenk ;

van den Maagdenberg, Arn M. J. M. .

LANCET NEUROLOGY, 2015, 14 (01) :65-80

[7] Genome-wide association analysis identifies susceptibility loci for migraine without aura [J].

Freilinger, Tobias ;

Anttila, Verneri ;

de Vries, Boukje ;

Malik, Rainer ;

Kallela, Mikko ;

Terwindt, Gisela M. ;

Pozo-Rosich, Patricia ;

Winsvold, Bendik ;

Nyholt, Dale R. ;

van Oosterhout, Willebrordus P. J. ;

Artto, Ville ;

Todt, Unda ;

Hamalainen, Eija ;

Fernandez-Morales, Jessica ;

Louter, Mark A. ;

Kaunisto, Mari A. ;

Schoenen, Jean ;

Raitakari, Olli ;

Lehtimaki, Terho ;

Vila-Pueyo, Marta ;

Goebel, Hartmut ;

Wichmann, Erich ;

Sintas, Celia ;

Uitterlinden, Andre G. ;

Hofman, Albert ;

Rivadeneira, Fernando ;

Heinze, Axel ;

Tronvik, Erling ;

van Duijn, Cornelia M. ;

Kaprio, Jaakko ;

Cormand, Bru ;

Wessman, Maija ;

Frants, Rune R. ;

Meitinger, Thomas ;

Mueller-Myhsok, Bertram ;

Zwart, John-Anker ;

Farkkila, Markus ;

Macaya, Alfons ;

Ferrari, Michel D. ;

Kubisch, Christian ;

Palotie, Aarno ;

Dichgans, Martin ;

van den Maagdenberg, Arn M. J. M. .

NATURE GENETICS, 2012, 44 (07) :777-U205

Vos, Theo ;

Abajobir, Amanuel Alemu ;

Abbafati, Cristiana ;

Abbas, Kaja M. ;

Abate, Kalkidan Hassen ;

Abd-Allah, Foad ;

Abdulle, Abdishakur M. ;

Abebo, Teshome Abuka ;

Abera, Semaw Ferede ;

Aboyans, Victor ;

Abu-Raddad, Laith J. ;

Ackerman, Ilana N. ;

Adamu, Abdu Abdullahi ;

Adetokunboh, Olatunji ;

Afarideh, Mohsen ;

Afshin, Ashkan ;

Agarwal, Sanjay Kumar ;

Aggarwal, Rakesh ;

Agrawal, Anurag ;

Agrawal, Sutapa ;

Kiadaliri, Aliasghar Ahmad ;

Ahmadieh, Hamid ;

Ahmed, Muktar Beshir ;

Aichour, Amani Nidhal ;

Aichour, Ibtihel ;

Aichour, Miloud Taki Eddine ;

Aiyar, Sneha ;

Akinyemi, Rufus Olusola ;

Akseer, Nadia ;

Al Lami, Faris Hasan ;

Alahdab, Fares ;

Al-Aly, Ziyad ;

Alam, Khurshid ;

Alam, Noore ;

Alam, Tahiya ;

Alasfoor, Deena ;

Alene, Kefyalew Addis ;

Ali, Raghib ;

Alizadeh-Navaei, Reza ;

Alkerwi, Ala'a ;

Alla, Francois ;

Allebeck, Peter ;

Allen, Christine ;

Al-Maskari, Fatma ;

Al-Raddadi, Rajaa ;

Alsharif, Ubai ;

Alsowaidi, Shirina ;

Altirkawi, Khalid A. ;

Amare, Azmeraw T. ;

Amini, Erfan .

LANCET, 2017, 390 (10100) :1211-1259

[9]

Gormley P, 2018, NEURON, V99, P1098, DOI [10.1016/j.neuron.2018.04.014, 10.1016/j.neuron.2018.08.029]

[10] Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine [J].

Gormley, Padhraig ;

Anttila, Verneri ;

Winsvold, Bendik S. ;

Palta, Priit ;

Esko, Tonu ;

Pers, Tune H. ;

Farh, Kai-How ;

Cuenca-Leon, Ester ;

Muona, Mikko ;

Furlotte, Nicholas A. ;

Kurth, Tobias ;

Ingason, Andres ;

McMahon, George ;

Ligthart, Lannie ;

Terwindt, Gisela M. ;

Kallela, Mikko ;

Freilinger, Tobias M. ;

Ran, Caroline ;

Gordon, Scott G. ;

Stam, Anine H. ;

Steinberg, Stacy ;

Borck, Guntram ;

Koiranen, Markku ;

Quaye, Lydia ;

Adams, Hieab H. H. ;

Lehtimaki, Terho ;

Sarin, Antti-Pekka ;

Wedenoja, Juho ;

Hinds, David A. ;

Buring, Julie E. ;

Schurks, Markus ;

Ridker, Paul M. ;

Hrafnsdottir, Maria Gudlaug ;

Stefansson, Hreinn ;

Ring, Susan M. ;

Hottenga, Jouke-Jan ;

Penninx, Brenda W. J. H. ;

Farkkila, Markus ;

Artto, Ville ;

Kaunisto, Mari ;

Vepsalainen, Salli ;

Malik, Rainer ;

Heath, Andrew C. ;

Madden, Pamela A. F. ;

Martin, Nicholas G. ;

Montgomery, Grant W. ;

Kurki, Mitja I. ;

Kals, Mart ;

Magi, Reedik ;

Parn, Kalle .

NATURE GENETICS, 2016, 48 (08) :856-+

← 1 2 3 4 →