Look beyond Catechol-O-Methyltransferase genotype for cathecolamines derangement in migraine: the BioBIM rs4818 and rs4680 polymorphisms study
Identifieur interne : 000135 ( Main/Exploration ); précédent : 000134; suivant : 000136Look beyond Catechol-O-Methyltransferase genotype for cathecolamines derangement in migraine: the BioBIM rs4818 and rs4680 polymorphisms study
Auteurs : Maria Laura De Marchis [Italie] ; Piero Barbanti [Italie] ; Raffaele Palmirotta [Italie] ; Gabriella Egeo [Italie] ; Cinzia Aurilia [Italie] ; Luisa Fofi [Italie] ; Serena Piroso [Italie] ; Cristiano Ialongo [Italie] ; David Della-Morte [Italie] ; Giovanni D Ndrea [Italie] ; Patrizia Ferroni [Italie] ; Fiorella Guadagni [Italie]Source :
- The Journal of Headache and Pain [ 1129-2369 ] ; 2015.
Abstract
The study of COMT gene polymorphisms in migraine could be of particular interest since impaired catecholaminergic neurotransmission, namely chronic dopaminergic and noradrenergic hypofunction, is a peculiar migraine trait. In this study, for the first time, we focused on the role of COMT rs4818 genetic variant, the polymorphism most strongly affecting COMT activity, in migraine. This study was conducted in a cohort of carefully clinical characterized Caucasian migraineurs recruited in a specifically dedicated migraine biobank, providing also a replication study on rs4680 polymorphism.
Genotyping of rs4680 and rs4818 Catechol-O-Methyltransferase gene polymorphisms was performed on 380 unrelated migraine patients, and 132 healthy subjects matched for age, gender and race-ethnicity, with no clinical evidence or family history of migraine or other neurological diseases. The rs4680 and rs4818 genotypic frequencies did not deviate from those expected for a population in Hardy-Weinberg equilibrium and did not correlate with demographics or clinical migraine features, even when considering migraine subtypes such as dopaminergic migraine, menstrual migraine, and menstrually related migraine.
COMT genotype does not influence migraine susceptibility or phenotype, even considering rs4818 polymorphism and peculiar clinical subtypes. This finding prompts to go over COMT to explain catecholamine derangement in migraine, exploring enzymes involved in catecholamines synthesis and catabolism, such as monoamine-oxidase, dopamine beta-hydroxylase, tyrosine-hydroxylase or tyrosine-decarboxylase, among others.
Url:
DOI: 10.1186/s10194-015-0520-x
PubMed: 25929431
PubMed Central: 4441644
Affiliations:
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type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="Aff2">Department of Cardiovascular, Respiratory, Nephrologic, Geriatric and Anesthesiological Sciences, Sapienza University, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Cardiovascular, Respiratory, Nephrologic, Geriatric and Anesthesiological Sciences, Sapienza University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Barbanti, Piero" sort="Barbanti, Piero" uniqKey="Barbanti P" first="Piero" last="Barbanti">Piero Barbanti</name><affiliation wicri:level="3"><nlm:aff id="Aff3">Headache and Pain Unit, Department of Neurological, Motor and Sensorial Sciences, IRCCS San Raffaele Pisana, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Headache and Pain Unit, Department of Neurological, Motor and Sensorial Sciences, IRCCS San Raffaele Pisana, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Palmirotta, Raffaele" sort="Palmirotta, Raffaele" uniqKey="Palmirotta R" first="Raffaele" last="Palmirotta">Raffaele Palmirotta</name><affiliation wicri:level="3"><nlm:aff id="Aff1">Interinstitutional Multidisciplinary Biobank (BioBIM), IRCCS San Raffaele Pisana, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Interinstitutional Multidisciplinary Biobank (BioBIM), IRCCS San Raffaele Pisana, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="Aff4">Telematic University San Raffaele, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Telematic University San Raffaele, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Egeo, Gabriella" sort="Egeo, Gabriella" uniqKey="Egeo G" first="Gabriella" last="Egeo">Gabriella Egeo</name><affiliation wicri:level="3"><nlm:aff id="Aff3">Headache and Pain Unit, Department of Neurological, Motor and Sensorial Sciences, IRCCS San Raffaele Pisana, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Headache and Pain Unit, Department of Neurological, Motor and Sensorial Sciences, IRCCS San Raffaele Pisana, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Aurilia, Cinzia" sort="Aurilia, Cinzia" uniqKey="Aurilia C" first="Cinzia" last="Aurilia">Cinzia Aurilia</name><affiliation wicri:level="3"><nlm:aff id="Aff3">Headache and Pain Unit, Department of Neurological, Motor and Sensorial Sciences, IRCCS San Raffaele Pisana, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Headache and Pain Unit, Department of Neurological, Motor and Sensorial Sciences, IRCCS San Raffaele Pisana, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Fofi, Luisa" sort="Fofi, Luisa" uniqKey="Fofi L" first="Luisa" last="Fofi">Luisa Fofi</name><affiliation wicri:level="3"><nlm:aff id="Aff3">Headache and Pain Unit, Department of Neurological, Motor and Sensorial Sciences, IRCCS San Raffaele Pisana, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Headache and Pain Unit, Department of Neurological, Motor and Sensorial Sciences, IRCCS San Raffaele Pisana, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Piroso, Serena" sort="Piroso, Serena" uniqKey="Piroso S" first="Serena" last="Piroso">Serena Piroso</name><affiliation wicri:level="3"><nlm:aff id="Aff3">Headache and Pain Unit, Department of Neurological, Motor and Sensorial Sciences, IRCCS San Raffaele Pisana, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Headache and Pain Unit, Department of Neurological, Motor and Sensorial Sciences, IRCCS San Raffaele Pisana, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Ialongo, Cristiano" sort="Ialongo, Cristiano" uniqKey="Ialongo C" first="Cristiano" last="Ialongo">Cristiano Ialongo</name><affiliation wicri:level="3"><nlm:aff id="Aff5">Department of Internal Medicine, Tor Vergata University, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Internal Medicine, Tor Vergata University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Della Morte, David" sort="Della Morte, David" uniqKey="Della Morte D" first="David" last="Della-Morte">David Della-Morte</name><affiliation wicri:level="3"><nlm:aff id="Aff1">Interinstitutional Multidisciplinary Biobank (BioBIM), IRCCS San Raffaele Pisana, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Interinstitutional Multidisciplinary Biobank (BioBIM), IRCCS San Raffaele Pisana, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="Aff6">Department of Systems Medicine, Tor Vergata University, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Systems Medicine, Tor Vergata University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="D Ndrea, Giovanni" sort="D Ndrea, Giovanni" uniqKey="D Ndrea G" first="Giovanni" last="D Ndrea">Giovanni D Ndrea</name><affiliation wicri:level="1"><nlm:aff id="Aff7">Research & Innovation (R&I) srl, Padua, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Research & Innovation (R&I) srl, Padua</wicri:regionArea><wicri:noRegion>Padua</wicri:noRegion></affiliation></author><author><name sortKey="Ferroni, Patrizia" sort="Ferroni, Patrizia" uniqKey="Ferroni P" first="Patrizia" last="Ferroni">Patrizia Ferroni</name><affiliation wicri:level="3"><nlm:aff id="Aff1">Interinstitutional Multidisciplinary Biobank (BioBIM), IRCCS San Raffaele Pisana, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Interinstitutional Multidisciplinary Biobank (BioBIM), IRCCS San Raffaele Pisana, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="Aff4">Telematic University San Raffaele, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Telematic University San Raffaele, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Guadagni, Fiorella" sort="Guadagni, Fiorella" uniqKey="Guadagni F" first="Fiorella" last="Guadagni">Fiorella Guadagni</name><affiliation wicri:level="3"><nlm:aff id="Aff1">Interinstitutional Multidisciplinary Biobank (BioBIM), IRCCS San Raffaele Pisana, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Interinstitutional Multidisciplinary Biobank (BioBIM), IRCCS San Raffaele Pisana, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="Aff4">Telematic University San Raffaele, Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Telematic University San Raffaele, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author></analytic><series><title level="j">The Journal of Headache and Pain</title><idno type="ISSN">1129-2369</idno><idno type="eISSN">1129-2377</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>The study of COMT gene polymorphisms in migraine could be of particular interest since impaired catecholaminergic neurotransmission, namely chronic dopaminergic and noradrenergic hypofunction, is a peculiar migraine trait. In this study, for the first time, we focused on the role of COMT rs4818 genetic variant, the polymorphism most strongly affecting COMT activity, in migraine. This study was conducted in a cohort of carefully clinical characterized Caucasian migraineurs recruited in a specifically dedicated migraine biobank, providing also a replication study on rs4680 polymorphism.</p></sec><sec><title>Findings</title><p>Genotyping of rs4680 and rs4818 Catechol-O-Methyltransferase gene polymorphisms was performed on 380 unrelated migraine patients, and 132 healthy subjects matched for age, gender and race-ethnicity, with no clinical evidence or family history of migraine or other neurological diseases. The rs4680 and rs4818 genotypic frequencies did not deviate from those expected for a population in Hardy-Weinberg equilibrium and did not correlate with demographics or clinical migraine features, even when considering migraine subtypes such as dopaminergic migraine, menstrual migraine, and menstrually related migraine.</p></sec><sec><title>Conclusions</title><p>COMT genotype does not influence migraine susceptibility or phenotype, even considering rs4818 polymorphism and peculiar clinical subtypes. This finding prompts to go over COMT to explain catecholamine derangement in migraine, exploring enzymes involved in catecholamines synthesis and catabolism, such as monoamine-oxidase, dopamine beta-hydroxylase, tyrosine-hydroxylase or tyrosine-decarboxylase, among others.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="D Ndrea, G" uniqKey="D Ndrea G">G D’Andrea</name></author><author><name sortKey="D Rrigo, A" uniqKey="D Rrigo A">A D’Arrigo</name></author><author><name sortKey="Dalle Carbonare, M" uniqKey="Dalle Carbonare M">M Dalle Carbonare</name></author><author><name sortKey="Leon, A" uniqKey="Leon A">A Leon</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Peroutka, Sj" uniqKey="Peroutka S">SJ Peroutka</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Barbanti, P" uniqKey="Barbanti P">P Barbanti</name></author><author><name sortKey="Fofi, L" uniqKey="Fofi L">L Fofi</name></author><author><name sortKey="Aurilia, C" uniqKey="Aurilia C">C Aurilia</name></author><author><name sortKey="Egeo, G" uniqKey="Egeo G">G Egeo</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tammim Ki, A" uniqKey="Tammim Ki A">A Tammimäki</name></author><author><name sortKey="M Nnisto, Pt" uniqKey="M Nnisto P">PT Männistö</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chen, J" uniqKey="Chen J">J Chen</name></author><author><name sortKey="Song, J" uniqKey="Song J">J Song</name></author><author><name sortKey="Yuan, P" uniqKey="Yuan P">P Yuan</name></author><author><name sortKey="Tian, Q" uniqKey="Tian Q">Q Tian</name></author><author><name sortKey="Ji, Y" uniqKey="Ji Y">Y Ji</name></author><author><name sortKey="Ren Patterson, R" uniqKey="Ren Patterson R">R Ren-Patterson</name></author><author><name sortKey="Liu, G" uniqKey="Liu G">G Liu</name></author><author><name sortKey="Sei, Y" 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uniqKey="De Angelis F">F De Angelis</name></author><author><name sortKey="Della Morte, D" uniqKey="Della Morte D">D Della Morte</name></author><author><name sortKey="Ferroni, P" uniqKey="Ferroni P">P Ferroni</name></author><author><name sortKey="Guadagni, F" uniqKey="Guadagni F">F Guadagni</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Italie</li></country><region><li>Latium</li></region><settlement><li>Rome</li></settlement></list><tree><country name="Italie"><region name="Latium"><name sortKey="De Marchis, Maria Laura" sort="De Marchis, Maria Laura" uniqKey="De Marchis M" first="Maria Laura" last="De Marchis">Maria Laura De Marchis</name></region><name sortKey="Aurilia, Cinzia" sort="Aurilia, Cinzia" uniqKey="Aurilia C" first="Cinzia" last="Aurilia">Cinzia Aurilia</name><name sortKey="Barbanti, Piero" sort="Barbanti, Piero" uniqKey="Barbanti P" first="Piero" last="Barbanti">Piero Barbanti</name><name sortKey="D Ndrea, Giovanni" sort="D Ndrea, Giovanni" uniqKey="D Ndrea G" first="Giovanni" last="D Ndrea">Giovanni D Ndrea</name><name sortKey="De Marchis, Maria Laura" sort="De Marchis, Maria Laura" uniqKey="De Marchis M" first="Maria Laura" last="De Marchis">Maria Laura De Marchis</name><name sortKey="Della Morte, David" sort="Della Morte, David" uniqKey="Della Morte D" first="David" last="Della-Morte">David Della-Morte</name><name sortKey="Della Morte, David" sort="Della Morte, David" uniqKey="Della Morte D" first="David" last="Della-Morte">David Della-Morte</name><name sortKey="Egeo, Gabriella" sort="Egeo, Gabriella" uniqKey="Egeo G" first="Gabriella" last="Egeo">Gabriella Egeo</name><name sortKey="Ferroni, Patrizia" sort="Ferroni, Patrizia" uniqKey="Ferroni P" first="Patrizia" last="Ferroni">Patrizia Ferroni</name><name sortKey="Ferroni, Patrizia" sort="Ferroni, Patrizia" uniqKey="Ferroni P" first="Patrizia" last="Ferroni">Patrizia Ferroni</name><name sortKey="Fofi, Luisa" sort="Fofi, Luisa" uniqKey="Fofi L" first="Luisa" last="Fofi">Luisa Fofi</name><name sortKey="Guadagni, Fiorella" sort="Guadagni, Fiorella" uniqKey="Guadagni F" first="Fiorella" last="Guadagni">Fiorella Guadagni</name><name sortKey="Guadagni, Fiorella" sort="Guadagni, Fiorella" uniqKey="Guadagni F" first="Fiorella" last="Guadagni">Fiorella Guadagni</name><name sortKey="Ialongo, Cristiano" sort="Ialongo, Cristiano" uniqKey="Ialongo C" first="Cristiano" last="Ialongo">Cristiano Ialongo</name><name sortKey="Palmirotta, Raffaele" sort="Palmirotta, Raffaele" uniqKey="Palmirotta R" first="Raffaele" last="Palmirotta">Raffaele Palmirotta</name><name sortKey="Palmirotta, Raffaele" sort="Palmirotta, Raffaele" uniqKey="Palmirotta R" first="Raffaele" last="Palmirotta">Raffaele Palmirotta</name><name sortKey="Piroso, Serena" sort="Piroso, Serena" uniqKey="Piroso S" first="Serena" last="Piroso">Serena Piroso</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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