Dataset Information

Thr698Thr (nt2369) polymorphism on CACNA1A gene and head pain severity in familial migraine.

ABSTRACT: BACKGROUND:Migraine is a common neurological disorder with a significant genetic component. Less information is known about the contribution of minor genetic variations, such as single nucleotide polymorphism (SNP) on the migraine process. In the present study, we aim to investigate the role of CACNA1A gene polymorphism on severity and related factors in family positive migraine patients. MATERIALS AND METHODS:We included 74 common migraine patients consequently. Headache severity was evaluated according to Headache Impact Test (HIT6) questionnaire and quality of life of patients was investigated according to MSQ (Migraine-Specific Quality of Life Questionnaire v2.1) questionnaire. Thirty patients with positive family history of migraine were selected and sequencing analysis after DNA extraction was performed. RESULTS:Direct sequencing revealed a known SNP G to A transition in the exon 16 (nt2369, G ? A) in 9 patients. There was no significantly correlation between polymorphism and type of migraine, severity, frequency, duration and quality of life in family positive migraine. Evaluated migraine severity by HIT6 questioner couldn't act as a risk factor for this polymorphism (OR: 0.93, CI%95 0.82-1.06 P = 0.3). CONCLUSION:In Iranian population no significant association was seen between Thr698Thr (nt2369) polymorphism and head pain severity in familial migraine. Confirmation of this hypothesis needs further investigation.

SUBMITTER: Meamar R

PROVIDER: S-EPMC3743310 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature

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Thr698Thr (nt2369) polymorphism on CACNA1A gene and head pain severity in familial migraine.

Meamar Rokhsareh R Soltani Nafise N Mohammadi Neda N Ostadsharif Maryam M

Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences 20130301 Suppl 1

<h4>Background</h4>Migraine is a common neurological disorder with a significant genetic component. Less information is known about the contribution of minor genetic variations, such as single nucleotide polymorphism (SNP) on the migraine process. In the present study, we aim to investigate the role of CACNA1A gene polymorphism on severity and related factors in family positive migraine patients.<h4>Materials and methods</h4>We included 74 common migraine patients consequently. Headache severity ...[more]

PMID: 23961276

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Project description:INTRODUCTION: Migraine is a chronic, neurovascular polygenic disease where genetic and environmental factors are involved in its etiology. Dysfunction of neuronal ion transportation can provide a model for predisposition for common forms of migraine. Mutations in genes encoding ion channels disturb the rhythmic function of exposed tissue that may also explain the episodic nature of migraine. Our aim was to study the single nucleotide polymorphisms of CACNA1A gene in migraine patients. MATERIALS AND METHODS: The subjects were the patients of migraine, in the age range of 18-80 years, diagnosed by a Neurologist, as per the diagnostic criteria of International Headache Society (IHS) Classification 2004 after excluding other causes of headache by clinical examination and relevant investigations. The controls were the age and sex matched healthy persons from the same population excluding the relatives of patients. Only those patients and the controls, who voluntarily participated in the study, were taken and their blood samples were taken for the study. Deoxyribonucleic acid (DNA) extraction was performed according to the manufacturer's protocol for Qiagen DNA extraction kits (Qiagen, Hilden, NRW, Germany). DNA content was quantified by spectrophotometric absorption (Nanodrop Spectrophotometer, BioLab, Scoresby, VIC, Australia). Polymerase chain reaction was performed using an iCycler Thermal Cycler (Bio.Rad, Hercules, CA, USA). The polymorphic analysis of CACNA1A gene was carried out by two methods: Restriction fragment length polymorphism and sequencing. RESULTS: The study included a total of 25 patients of migraine, diagnosed on out-patient department basis as per IHS Classification 2004 and compared with age and sex matched 25 healthy controls. Most of the patients 23 (92%) were below the age of 50 years. 20 of the patients (80%) were females and 5 (20%) were males. The polymorphic analysis of CACNA1A gene revealed the presence of only the wild form of the gene for the codon E993V in both case and control groups. CONCLUSION: In our study, we could not find any polymorphism of CACNA1A gene in the selected patients. Instead the wild type of genotype was found in both patients and controls. This negative result presented here, implies that if the CACNA1A gene is involved in typical migraine (with and without aura), its contribution is very modest and therefore difficult to discern. Nevertheless, there are other genes that could be considered potential candidates for typical migraine susceptibility for which further research is needed.

Dataset Information

Thr698Thr (nt2369) polymorphism on CACNA1A gene and head pain severity in familial migraine.

Publications

Thr698Thr (nt2369) polymorphism on CACNA1A gene and head pain severity in familial migraine.

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