Vitamin D receptor and binding protein genes variants in patients with migraine.

BACKGROUND/OBJECTIVES: Several studies have shown a relationship between vitamin D and migraine, including the association between decreased serum 25-hydroxyvitamin D in patients with migraine and the positive effects of vitamin D supplementations in the therapy of this disease. Two single-nucleotide variants (SNVs) vitamin D receptor (VDR) gene, VDR rs2228570, and VDR rs731236 have shown an association with migraine risk in a previous case-control association study, while an exome sequencing study identified a rare variant in GC vitamin D binding protein gene. This study aims to look for the association between several common variants in these two genes and the risk for migraine. METHODS: We genotyped 290 patients diagnosed with migraine and 300 age-matched controls using specific TaqMan assays for VDR rs2228570, VDR rs731236, VDR rs7975232, VDR rs739837, VDR rs78783628, GC rs7041, and GC rs4588 SNVs. RESULTS: We did not find an association between these SNVs and the risk for migraine. None of these SNVs were related to the positivity of a family history of migraine or with the presence of aura. The VDR rs731236A allele showed a significant association with the triggering of migraine attacks by ethanol (Pc = 0.007). CONCLUSIONS: In summary, the results of the current study suggest a lack of association between common SNVs in the VDR and GC gene and the risk of developing migraine. The possible relationship between VDR rs731236 and the triggering of migraine episodes with ethanol deserves future studies.

Lack of Association between Common LAG3/CD4 Variants and Risk of Migraine.

Several papers have been published suggesting a probable role of inflammatory factors in the etiopathogenesis of migraine. In this study, we investigated the possible association between common variants in the LAG3/CD4 genes (both genes, which are closely related, encode proteins involved in inflammatory and autoimmune responses) in the risk of migraine in a cohort of Caucasian Spanish participants. For this purpose, the frequencies of CD4 rs1922452, CD4 rs951818, and LAG3 rs870849 genotypes and allelic variants, using a specific TaqMan-based qPCR assay, were assessed in 290 patients diagnosed with migraine and in 300 healthy controls. The relationship of these variables with several clinical features of migraine was also analyzed. The frequencies of the analyzed LAG3/CD4 genotypes did not differ significantly between the two study groups and were not related to the sex, age at onset of migraine, family history of migraine, presence or absence of aura, or the triggering effect of ethanol on migraine episodes. These results suggest a lack of association between common variants in the LAG3/CD4 genes and the risk of developing migraine in the Caucasian Spanish population.

Increased serum diamine oxidase activity in nonallergic patients with migraine.

BACKGROUND/OBJECTIVES: Histamine has shown a possible role in the etiopathogenesis of migraine. It has been reported an association between some polymorphisms in the diamine oxidase (DAO) gene and migraine, especially in women. Two studies addressing DAO activity in migraine patients showed conflicting results. We investigated the possible relationship of serum DAO activity and histamine levels and 3 polymorphisms in the DAO gene with the risk for migraine. METHODS: We studied the frequencies of DAO rs10156191, rs1049742 and rs1049793 genotypes and allelic variants in 298 migraine patients and 360 healthy controls (using a TaqMan-based qPCR assay), and serum DAO activity and histamine levels in a subset of 99 migraine patients and 115 controls with strict exclusion criteria, and analysed the relationship of these variables with several clinical features of migraine. RESULTS: The frequencies of the DAO genotypes and allelic variants analysed were similar in migraine patients and controls. Serum DAO activity was significantly higher in migraine patients (Vmax/Km 4.24 ± 2.93 vs. 3.60 ± 7.64, p < 0.001), especially in females (Vmax/Km 4.63 ± 2.96 vs. 3.18 ± 2.32, p < 0.0001), while serum histamine was similar in both study groups. CONCLUSION: Serum DAO activity was increased in patients with migraine, especially in females, while serum histamine levels were normal. None of the studied polymorphisms was associated with the risk for migraine.

Association between endothelial nitric oxide synthase (NOS3) rs2070744 and the risk for migraine.

Because nitric oxide could play an important role in the pathogenesis of migraine (suggested by experimental, neuropathological, biochemical, and pharmacological data), and a recent meta-analysis showed an association between the single-nucleotide polymorphism (SNP) rs2070744 in the endothelial nitric oxide synthase (eNOS or NOS3) gene (chromosome 7q36.1) and the risk for migraine in Caucasians, we attempted to replicate the possible association between this SNP and the and the risk for migraine in the Caucasian Spanish population. The frequencies for the NOS3 rs2070744 genotypes and allelic variants were assessed in 283 migraine patients and 287 healthy controls with a TaqMan-based qPCR Assay. The putative influence on genotype frequency of age at onset of migraine attacks, gender, family history of migraine, absence or presence of aura, and triggering of migraine attacks by ethanol, were also analyzed. The frequencies of NOS3 rs2070744 genotypes and allelic variants were not associated with the risk for migraine (OR [95%] CI for the minor allele = 0.91 [0.72-1.15]) and were not influenced by age at onset of migraine, gender, presence of aura, or triggering of migraine attacks by ethanol. NOS3 rs2070744CC genotypes were significantly more frequent in patients with a family history of migraine. NOS3 rs2070744 SNP is not associated with the risk for migraine in Caucasian Spanish people although it might be related to family history.

Peroneal nerve mononeuropathy associated with herpes zoster. A case report.

BACKGROUND: Sensory or motor syndromes, especially mononeuropathies, are infrequent complications of herpes zoster. CASE REPORT: We describe a 77-year-old woman who developed a severe right common peroneal nerve mononeuropathy with clinical onset 10 days after a vesicular rash consistent with herpes zoster in the territory of distribution of this nerve. CONCLUSION: To our knowledge, peroneal nerve mononeuropathy associated with herpes zoster has not been reported previously.

Gamma-aminobutyric acid (GABA) receptors genes polymorphisms and risk for restless legs syndrome.

The possible role of gammaaminobutyric acid (GABA) in the pathophysiology of restless legs syndrome (RLS) is suggested by the symptomatic improvement achieved with GABAergic drugs. Thalamic GABA levels have shown positive correlation with periodic limb movements indices and with RLS severity. We tried to investigate the possible association between the most common single nucleotide polymorphisms (SNPs) in the GABA receptors (GABR) genes rho1, 2, and 3 (GABRR1, GABRR2, GABRR3), alpha4 (GABRA4), epsilon (GABRE), and theta (GABRQ) with the risk of developing RLS. We studied the genotype and allelic variant frequencies of the most common SNPs in the GABRR1(rs12200969, rs1186902), GABRR2(rs282129), GABRR3(rs832032), GABRA4(rs2229940), GABRE(rs1139916), and GABRQ(rs3810651) genes in 205 RLS patients and 230 age- and gender-matched healthy controls using specific TaqMan assays. The frequencies of the GABRR3 rs832032TT genotype and the allelic variant GABRR3 rs832032T were significantly higher in RLS patients than in controls (odds ratio [95% confidence intervals] 7.08[1.48-46.44] and 1.66[1.16-2.37], respectively), although only the higher frequency of the rs832032T allele remained as significant after multiple comparison analysis, both in the whole series and in the female gender. The frequencies of the other genotypes of allelic variants did not differ significantly between RLS patients and controls. RLS patients carrying the GABRA4 rs2229940TT genotype showed a significantly younger age at onset of RLS symptoms than those with the other two genotypes. These results suggest association between GABRR3rs832032 polymorphism and the risk for RLS, and a modifier effect of GABRA4 rs2229940 on the age of onset of RLS.

Gamma-aminobutyric acid (GABA) receptors GABRA4, GABRE, and GABRQ gene polymorphisms and risk for migraine.

Several biochemical, pharmacological, neurophysiological and experimental data suggest a possible role of gamma-aminobutyric acid (GABA) in the pathogenesis of migraine. We investigated the possible association of the most common single nucleotide polymorphisms (SNPs) in the GABA receptor alpha4 (GABRA4), epsilon (GABRE), and theta (GABRQ) genes with the risk for migraine. A TaqMan-based qPCR assay designed to detect the most common SNPs in the GABRA4 (rs2229940), GABRE (rs1139916), and GABRQ (rs3810651) was performed in 197 migraine patients and 394 age- and gender-matched controls. The possible influence of gender, age at onset of migraine, positive family history of migraine, presence or absence of aura, and triggering of migraine by ethanol on the frequency of the genotypes was also studied. The frequency of GABRE rs1139916AA genotype was significantly lower in the migraine group only in the female gender, but the differences did not reach statistical significance after correction for multiple comparisons. The mean ± SD age at onset of migraine was significantly lower in patients with GABRQ rs3810651AA as compared with the other two genotypes. Positive family history of migraine and presence or absence of aura did not influence the frequencies of the genotypes of the three SNPs studied. Triggering of migraine by ethanol was significantly less frequent in patients with GABRA4 rs2229940GG and more frequent in patients with GABRQ 3810651TT genotype, but the differences lost statistical significance after correction for multiple comparisons. GABRQ rs3810651 could play a role in the modification of age at onset of migraine.

Association Between the rs1229984 Polymorphism in the Alcohol Dehydrogenase 1B Gene and Risk for Restless Legs Syndrome.

Background/Objectives: Several studies have raised the possibility of an association between alcohol consumption and the risk of developing restless legs syndrome (RLS). Moreover, an important percentage of patients under alcohol detoxification therapy develop RLS symptoms that fulfil the criteria for idiopathic RLS during alcohol withdrawal. We have aimed to establish the possible association between two common single nucleotide polymorphisms (SNPs) in the alcohol-dehydrogenase 1B (ADH1B) gene and the risk for RLS. Methods: We studied, using specific TaqMan assays, the genotype and allelic variant frequencies of ADH1B rs1229984 and ADH1B rs6413413 SNPs in 205 RLS patients and 505 gender-matched healthy controls. Results: The sum of the frequencies of rs1229984CT and rs1229984TT genotypes, as well as the frequency of the rs1229984T allelic variant, was significantly higher in RLS patients than in controls, both in the whole group and in females. The frequencies of genotypes and allelic variants of the rs6413413 SNP were similar between the two groups. RLS patients with the rs1229984CT genotype were younger, and those with the rs122984TT genotype older, at onset of RLS symptoms than those with the rs1229984CC genotype. None of the studied SNPs were related either with positivity of family history for RLS or with RLS severity. Conclusions: These results suggest an association between rs1229984 SNP and the risk for RLS.

Gamma-Aminobutyric Acid (Gaba) Receptors Rho (Gabrr) Gene Polymorphisms and Risk for Migraine.

BACKGROUND/OBJECTIVES: The possible role of gammaaminobutyric acid (GABA) in the pathogenesis of migraine has been suggested by a number of biochemical, pharmacological, neurophysiological and experimental data. We investigated the possible association between the most common single nucleotide polymorphisms (SNPs) in the GABA receptor rho1, 2, and 3 genes (GABRR1, GABRR2, and GABRR3) and the risk of developing migraine. METHODS: The frequency of GABRR1 rs12200969, GABRR1 rs1186902, GABRR2 rs282129, and GABRR3 rs832032 genotypes and allelic variants were studied in a case-control association study involving 197 patients with migraine and 278 healthy controls by means of a TaqMan-based qPCR Assay. We also studied the possible influence of gender, age at onset of migraine, positive family history of migraine, presence or absence of aura, and triggering of migraine by ethanol on the frequency of the genotypes. RESULTS: The frequencies of the genotypes and allelic variants of the 4 SNPs were similar in migraine patients and controls. Gender, positive family history of migraine, presence or absence of aura, and triggering of migraine attacks by ethanol did not influence the frequency of these genotypes. Carriers of the minor allele of the rs1186902 SNP showed a trend towards later onset of migraine. CONCLUSION: The most common polymorphisms in the GABRR genes seemed to be not associated with the risk for migraine in Caucasian Spanish people, although one of them (GABRR1 rs1186902) shows a statistically significant association with the age of onset of migraine.

Efficacy and safety of eslicarbazepine acetate monotherapy for partial-onset seizures: Experience from a multicenter, observational study.

Eslicarbazepine acetate (ESL, Aptiom™) is a once-daily anticonvulsant, approved as adjunctive treatment of partial-onset seizures (POS). Historical-controlled trials investigating the use of ESL as monotherapy have demonstrated a favorable efficacy and tolerability profile in patients with POS. This prospective, non-interventional study recruited POS patients in 17 hospitals in Spain. After a 3-month baseline period, ESL therapy was initiated as 400mg QD and up-titrated to an optimal maintenance dose based on clinical response and tolerance. The incidence of seizures was assessed via seizure calendars and the nature and severity of adverse events (AEs) were also recorded. A total of 117 patients (aged 9-87years) enrolled in the study and were treated with ESL at either 400mg/day (3.4% patients), 800mg/day (61% patients), 1200mg/day (27.1% patients) or 1600mg/day (8.5% patients). At 3months, 82.0% (n=72) of patients achieved a ≥50% reduction in seizure frequency, compared to 79.7% (n=67) of patients at 6months and 83.0% (n=49) at 12months. Patients who suffered secondary generalized tonic-clonic (SGTC) seizures had seizure-free rates of 71% (n=27), 69.6% (n=29), and 72.7% (n=16) at 3, 6, and 12months, respectively. Overall, 18 patients (15.3%) reported AEs of instability and dizziness (n=9), somnolence (n=3), mild hyponatremia (n=3), headache (n=1), hypertriglyceridemia (n=1), and allergic reaction (n=1), which caused ESL discontinuation of ESL treatment. ESL is effective and well tolerated as monotherapy for patients with POS, which supports previous findings. Early use is supported by its frequent use as monotherapy in this study and lack of severe side effects.

Thr105Ile (rs11558538) polymorphism in the histamine-1-methyl-transferase (HNMT) gene and risk for restless legs syndrome.

A recent meta-analysis suggests an association between the rs11558538 single nucleotide polymorphism in the histamine-N-methyl-transferase (HNMT) gene and the risk for Parkinson's disease. Based on the possible relationship between PD and restless legs syndrome (RLS), we tried to establish whether rs11558538 SNP is associated with the risk for RLS. We studied the genotype and allelic variant frequencies of HNMT rs11558538 SNP 205 RLS patients and 410 healthy controls using a TaqMan assay. The frequencies of the HNMT rs11558538 genotypes allelic variants were similar between RLS patients and controls, and were not influenced by gender, family history of RLS, or RLS severity. RLS patients carrying the genotype rs11558538TT had an earlier age at onset, but this finding was based on three subjects only. These results suggest a lack of major association between HNMT rs11558538 SNP and the risk for RLS.

Association Between Vitamin D Receptor rs731236 (Taq1) Polymorphism and Risk for Restless Legs Syndrome in the Spanish Caucasian Population.

Several recent works suggest a possible role of vitamin D deficiency in the etiology or restless legs syndrome (RLS). We analyzed the possible relationship of 2 common single nucleotide polymorphisms (SNPs) in the vitamin D3 receptor (VDR) gene with the risk for RLS.We studied the genotype and allelic variant frequencies of VDR rs2228570 and VDR rs731236 SNPs in 205 RLS patients and 445 healthy controls using a TaqMan essay.The frequencies of the rs731236AA genotype and the allelic variant rs731236A were significantly lower in RLS patients than in controls (P < 0.005 and < 0.01, respectively). Restless legs syndrome patients carrying the allelic variant rs731236G had an earlier age at onset, and those carrying the rs731236GG genotype had higher severity of RLS, although these data disappeared after multivariate analyses. None of the SNPs studied was related with the positivity of family history of RLS.These results suggest a modest, but significant association between VDR rs731236 SNP and the risk for RLS.

Neuronal Nitric Oxide Synthase (nNOS, NOS1) rs693534 and rs7977109 Variants and Risk for Migraine.

BACKGROUND/OBJECTIVES: Many biochemical, pharmacological, neuropathological, and experimental data suggest a possible role of nitric oxide in the pathogenesis of migraine. We investigated the possible association between functional single nucleotide polymorphisms (SNPs) in the neuronal nitric oxide synthase gene (NOS1 or nNOS; chromosome 12q24.22) and the risk for migraine. METHODS: We studied the frequency of the of rs7977109 and rs693534 genotypes and allelic variants in 197 patients with migraine and 308 healthy controls using a TaqMan-based qPCR assay. As a secondary analysis, we studied the possible influence of gender, age at onset of migraine, positive family history of migraine, and presence or absence of aura on the genotypes frequency. RESULTS: The frequencies of rs7977109 and rs693534 genotypes and allelic variants were not associated with the risk for migraine with OR for minor alleles = 0.94 (95% CI 0.72-1.23) and = 0.88 (0.68-1.15), respectively, and the lack of association was not influenced by gender, age at onset of migraine, positive family history of migraine, and presence or absence of aura. CONCLUSION: NOS1 rs7977109 and rs693534 genotypes and allelic variants are not associated with the risk for migraine in Caucasian Spanish people.

Heme Oxygenase-1 and 2 Common Genetic Variants and Risk for Restless Legs Syndrome.

Several neurochemical, neuropathological, neuroimaging, and experimental data, suggest that iron deficiency plays an important role in the pathophysiology of restless legs syndrome (RLS). Heme-oxygenases (HMOX) are an important defensive mechanism against oxidative stress, mainly through the degradation of heme to biliverdin, free iron, and carbon monoxide. We analyzed whether HMOX1 and HMOX2 genes are related with the risk to develop RLS.We analyzed the distribution of genotypes and allelic frequencies of the HMOX1 rs2071746, HMOX1 rs2071747, HMOX2 rs2270363, and HMOX2 rs1051308 SNPs, as well as the presence of Copy number variations (CNVs) of these genes in 205 subjects RLS and 445 healthy controls.The frequencies of rs2071746TT genotype and rs2071746T allelic variant were significantly lower in RLS patients than that in controls, although the other 3 studied SNPs did not differ between RLS patients and controls. None of the studied polymorphisms influenced the disease onset, severity of RLS, family history of RLS, serum ferritin levels, or response to dopaminergic agonist, clonazepam or GABAergic drugs.The present study suggests a weak association between HMOX1 rs2071746 polymorphism and the risk to develop RLS in the Spanish population.

Actividad asistencial neurológica en un hospital comarcal de reciente creación: modelo de alta eficiencia / Neurological health care activity in a recently created district hospital: model of high efficiency

Objetivo. Analizar la actividad asistencial de un hospital comarcal de reciente creación, con especial énfasis en los indicadores asistenciales en consultas externas y en actos médicos de pacientes ingresados. Pacientes y métodos. Describimos la actividad asistencial realizada por nuestra sección de neurología durante los años 2008-2013. Se comparan nuestros indicadores asistenciales de los años 2012 y 2013 (quinto y sexto año de actividad), tanto en consultas externas como en pacientes ingresados, con los de otros dos hospitales de características similares, otros tres de nivel secundario y otros cuatro de nivel terciario. Resultados. La sección de neurología de nuestro hospital fue la que realizó mayor número de primeras consultas por facultativo, tuvo el mejor índice de consultas sucesivas/primeras y el mayor porcentaje de consultas de alta resolución, tuvola menor estancia media en los dos grupos relacionados por el diagnóstico (GRD) más frecuentes en nuestra especialidad, y fue la segunda en ingresos por facultativo del GRD ‘ictus con infarto’ y la tercera en ingresos por facultativo del GRD ‘otros trastornos del sistema nervioso’. Conclusiones. Los indicadores asistenciales de la sección de neurología de nuestro hospital muestran un modelo de muy alta eficiencia, al cual sólo se aproximan los de otros dos de características y desarrollo similares al nuestro. La implantación gradual de modelos similares al de estos tres hospitales en los niveles secundario y terciario podría ser de utilidad en la mejora de su eficiencia asistencial (AU)

Aim. To analyze the neurological attention of a county hospital of recent creation, with a special emphasis in the health care indicators, both in hospital out-patients consultations and in patients admitted to the hospital. Patients and methods. We have made a descriptive analysis of the neurological attention developed by our Neurology Section between the years 2008 and 2013. We also made a comparative analysis of health care indicators corresponding to the years 2012 and 2013 (5th and 6th years of clinical activity) of our hospital with those of two other hospitals with similar features, other three hospitals of secondary level, and four of tertiary level. Results. The Neurology Section of our hospital was the best in the number of first visits divided by number of physicians, in the follow-up/first visit index, in the percentage of high-resolution visits, and was the best in the mean stay in hospital for the two most frequent diagnostic related groups (DRG) in our speciality, the second in number of hospital admissions divided by number of physicians for the DRG ‘stroke with infarction’ and the third in number of hospital admissions divided by number of physicians for the DRG ‘other nervous system disorders’. Conclusions. The health care indicators of the Neurology Section of our hospital showed a very high efficiency model of medical assistance, which was only followed by other two hospitals with similar features to ours. The gradual implementation of assistance models similar to that used in these hospitals in other of secondary or tertiary levels could be useful in theimprovement of their health care efficiency (AU)

[Neurological health care activity in a recently created district hospital: model of high efficiency]. / Actividad asistencial neurológica en un hospital comarcal de reciente creación: modelo de alta eficiencia.

AIM: To analyze the neurological attention of a county hospital of recent creation, with a special emphasis in the health care indicators, both in hospital out-patients consultations and in patients admitted to the hospital. PATIENTS AND METHODS: We have made a descriptive analysis of the neurological attention developed by our Neurology Section between the years 2008 and 2013. We also made a comparative analysis of health care indicators corresponding to the years 2012 and 2013 (5th and 6th years of clinical activity) of our hospital with those of two other hospitals with similar features, other three hospitals of secondary level, and four of tertiary level. RESULTS: The Neurology Section of our hospital was the best in the number of first visits divided by number of physicians, in the follow-up/first visit index, in the percentage of high-resolution visits, and was the best in the mean stay in hospital for the two most frequent diagnostic related groups (DRG) in our speciality, the second in number of hospital admissions divided by number of physicians for the DRG 'stroke with infarction' and the third in number of hospital admissions divided by number of physicians for the DRG 'other nervous system disorders'. CONCLUSIONS: The health care indicators of the Neurology Section of our hospital showed a very high efficiency model of medical assistance, which was only followed by other two hospitals with similar features to ours. The gradual implementation of assistance models similar to that used in these hospitals in other of secondary or tertiary levels could be useful in the improvement of their health care efficiency.

TITLE: Actividad asistencial neurologica en un hospital comarcal de reciente creacion: modelo de alta eficiencia.Objetivo. Analizar la actividad asistencial de un hospital comarcal de reciente creacion, con especial enfasis en los indicadores asistenciales en consultas externas y en actos medicos de pacientes ingresados. Pacientes y metodos. Describimos la actividad asistencial realizada por nuestra seccion de neurologia durante los años 2008-2013. Se comparan nuestros indicadores asistenciales de los años 2012 y 2013 (quinto y sexto año de actividad), tanto en consultas externas como en pacientes ingresados, con los de otros dos hospitales de caracteristicas similares, otros tres de nivel secundario y otros cuatro de nivel terciario. Resultados. La seccion de neurologia de nuestro hospital fue la que realizo mayor numero de primeras consultas por facultativo, tuvo el mejor indice de consultas sucesivas/primeras y el mayor porcentaje de consultas de alta resolucion, tuvo la menor estancia media en los dos grupos relacionados por el diagnostico (GRD) mas frecuentes en nuestra especialidad, y fue la segunda en ingresos por facultativo del GRD 'ictus con infarto' y la tercera en ingresos por facultativo del GRD 'otros trastornos del sistema nervioso'. Conclusiones. Los indicadores asistenciales de la seccion de neurologia de nuestro hospital muestran un modelo de muy alta eficiencia, al cual solo se aproximan los de otros dos de caracteristicas y desarrollo similares al nuestro. La implantacion gradual de modelos similares al de estos tres hospitales en los niveles secundario y terciario podria ser de utilidad en la mejora de su eficiencia asistencial.

Diamine oxidase†rs10156191 and rs2052129 variants are associated with the risk for migraine.

BACKGROUND: Histamine has been implicated in the pathogenesis of migraine. We investigated the possible association between functional single nucleotide polymorphisms (SNPs) in the diamine oxidase gene (DAO; chromosome 7q36.1, involved in histamine metabolism) and the risk for migraine. METHODS: We studied the frequency of the rs2052129, rs10156191, rs1049742, and rs1049793 genotypes and allelic variants in 197 patients with migraine and 245 healthy controls using a TaqMan-based qPCR Assay. RESULTS: The DAO SNP rs10156191, which is related to decreased DAO enzyme activity, is associated with the risk of developing migraine, particularly in women. The odds ratio (OR) for the defect allele positivity is 1.61 (95% confidence interval 1.31-2.37) for overall migraine patients and 2.08 (1.29-3.36) for women suffering from migraine. The association was not influenced by confounders such as the age at onset, the presence of aura, positivity of alcohol as a triggering factor, positive family history of aura, or family history of allergy. Multiple regression analyses did not confirm association with the rest of genetic factors. CONCLUSION: Our findings, which should be framed as hypothesis generating, suggest that DAO genotypes and allelic variants are associated with the risk for migraine in Caucasian Spanish people, especially in women.

Neuronal nitric oxide synthase (nNOS, NOS1) rs693534 and rs7977109 variants and risk for restless legs syndrome.

Several biochemical, neuropathological, and experimental data suggest a possible role of nitric oxide (NO) in the pathophysiology of restless legs syndrome (RLS). Two single nucleotide polymorphisms (SNPs) neuronal nitric oxide synthase (nNOS or NOS1) gene (rs7977109 and rs693534) have been found to be associated with the risk for RLS in Germans, although only one of them (rs7977109) remained as significant after multiple comparison tests. The aim of our study was to replicate the possible association between these SNPs and risk for RLS in the Spanish population. We studied the allelic and genotype frequencies of the SNPs rs7977109 and rs693534 in 205 patients with RLS and 328 healthy controls using TaqMan genotyping. The rs7977109 and rs693534 genotypes and allelic frequencies did not significantly differ between patients with RLS and controls and were unrelated with the age at onset of RLS, gender, ferritin levels, and response to dopaminergic or gabaergic agents. The rs7999109GA genotype was overrepresented in RLS patients with positive family history of RLS, and in patients with symptomatic response to clonazepam. The results of our study suggest that these two NOS1 SNPs are not related to the overall risk for RLS in the Spanish population.

SLC1A2 rs3794087 variant and risk for migraine.

BACKGROUND/OBJECTIVES: Glutamate has been implicated in the pathogenesis of migraine. We investigated the possible association between the polymorphism rs3794087 in the SLC1A2 gene (EATT2 or GLT-1; chromosome 11p13-p12 involved in glutamate transport) and the risk for migraine and for triggering migraine attacks by alcohol. METHODS: We studied the frequency of the rs3794087 genotypes and allelic variants in 197 patients with migraine and 308 healthy controls using a TaqMan-based qPCR assay. RESULTS: The frequencies of the rs3794087 genotypes and alleles were similar in patients with migraine and controls, and were unrelated with the age of onset of migraine, gender, presence or absence of aura, or family history of migraine CONCLUSION: rs3794087 genotype and allelic variants were not related with the risk for migraine in Caucasian Spanish people.

The solute carrier family 1 (glial high affinity glutamate transporter), member 2 gene, SLC1A2, rs3794087 variant and assessment risk for restless legs syndrome.

OBJECTIVE: A glutamatergic dysfunction has been postulated to play a role in restless legs syndrome (RLS) pathophysiology, as glutamate concentrations have been found to increase in the thalamus of RLS patients. The aim of our study was to investigate the possible association between the single nucleotide polymorphism (SNP) rs3794087 in the solute carrier family 1 (glial high affinity glutamate transporter), member 2 gene, SLC1A2, related with glutamate transport and the risk for RLS. METHODS: We studied the allelic and genotype frequencies of the SNP rs3794087 in 205 patients with RLS and 328 healthy controls using TaqMan genotyping. RESULTS: The rs3794087 genotype and allelic frequencies did not significantly differ between patients with RLS and controls and were unrelated with the age at onset of RLS, gender, and family history of RLS. CONCLUSIONS: The results of our study suggest that the rs3794087 polymorphism is not related to the risk for RLS.