Look beyond Catechol-O-Methyltransferase genotype for cathecolamines derangement in migraine: the BioBIM rs4818 and rs4680 polymorphisms study

The Journal of Headache and Pain

Short Report

Cristiano Ialongo¹  Serena Piroso²  Cinzia Aurilia²  Gabriella Egeo²  Piero Barbanti²  Luisa Fofi²  Maria Laura De Marchis³  David Della-Morte⁴  Raffaele Palmirotta⁵  Patrizia Ferroni⁵  Fiorella Guadagni⁵  Giovanni D’Andrea⁶ 

[1] Department of Internal Medicine, Tor Vergata University, Rome, Italy;Headache and Pain Unit, Department of Neurological, Motor and Sensorial Sciences, IRCCS San Raffaele Pisana, Rome, Italy;Interinstitutional Multidisciplinary Biobank (BioBIM), IRCCS San Raffaele Pisana, Rome, Italy;Department of Cardiovascular, Respiratory, Nephrologic, Geriatric and Anesthesiological Sciences, Sapienza University, Rome, Italy;Interinstitutional Multidisciplinary Biobank (BioBIM), IRCCS San Raffaele Pisana, Rome, Italy;Department of Systems Medicine, Tor Vergata University, Rome, Italy;Interinstitutional Multidisciplinary Biobank (BioBIM), IRCCS San Raffaele Pisana, Rome, Italy;Telematic University San Raffaele, Rome, Italy;Research & Innovation (R&I) srl, Padua, Italy;

关键词: COMT;    Migraine;    Catecholamines;    Polymorphism;    Disability;    SNP;    Val 158 Met;    Genetics;   

DOI  :  10.1186/s10194-015-0520-x

 received in 2015-03-04, accepted in 2015-04-16,  发布年份 2015

来源: Springer

【 摘 要 】

BackgroundThe 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.FindingsGenotyping 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.ConclusionsCOMT 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.

【 授权许可】

Unknown   
© De Marchis et al.; licensee Springer. 2015. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited.