Reply: Genetic polymorphisms and cerebrovascular disease in children with sickle cell anemia from Rio de Janeiro, Brazil

Filho, Isaac Lima da Silva; Leite, Ana Cláudia Celestino Bezerra; Moura, Paulo; Ribeiro, Georgina Severo; Cavalcante, Andréa Cony; Azevedo, Flávia Carolina Marques de; Andrada-Serpa, Maria José

doi:10.1590/s0004-282x2012000800023

Cited by 5 publications

(3 citation statements)

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“…Although studies of several different ethnic groups of patients with SCD suggested that the β S globin gene haplotype may be a useful predictor of disease severity, the association of β S globin gene haplotype with the severity of SCD must be cautiously interpreted as data are controversial. Several factors may influence the disease course in addition to β S globin gene haplotype [32], as in our study where most of the patients were on chronic blood transfusion and/or HU therapy. Nevertheless, the lack of statistically significant correlations in our study could be due to the small sample size.…”

Section: Discussionmentioning

confidence: 69%

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β^Sglobin gene haplotype and the stroke risk among Egyptian children with sickle cell disease

et al. 2017

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Section: Discussionmentioning

confidence: 69%

“…These controversial results are probably related to the small sample size in each study. However, each population has its peculiarities that characterize it from other populations [32].…”

Section: Discussionmentioning

confidence: 99%

β^Sglobin gene haplotype and the stroke risk among Egyptian children with sickle cell disease

et al. 2017

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“…In fact, in general Brazilian population the mutant allele frequency ranged between 0.7%-3.6% (rs1799963*A) 23,24,25 . Brazilian population has an extremely heterogeneous ethnic composition, unevenly distributed across the country with variable degrees of admixtures 25 . This heterogeneity may also explain the allele frequency spectrum observed when different reports are considered.…”

Section: Discussionmentioning

confidence: 98%

Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy

Born

Santos

Secolin

et al. 2015

Arq. Neuro-Psiquiatr.

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Juvenile myoclonic epilepsy (JME) is a subtype of common idiopathic generalized epilepsy (IGE) and accounts for 10% of all forms of epilepsy and up to 26% of IGE. Onset is at puberty with equal sex ratio and it is characterized by myoclonic jerks, occasional generalized tonic-clonic seizures, and sometimes absence seizures 1 . It is also highly drug-dependent, since a ABSTRACTJuvenile myoclonic epilepsy (JME) accounts for 26% of generalized idiopathic epileptic syndromes. The highest levels of thrombin activity are closely involved in the development of neurological diseases, including epilepsy. The prothrombin c.20210G>A (rs1799963) variation, which alters prothrombin mRNA stability, is associated with high plasma prothrombin levels. Objective: The present study was designed to investigate whether the SNP rs1799963 is a risk factor for JME in the northeastern Brazilian population. Results: The polymorphism was genotyped in 207 controls and 123 patients using polymerase chain reaction-restriction fragment length polymorphism method. No significant differences were observed in the genotype and allele frequencies of this polymorphism between cases and controls. Conclusion: These results present no evidence for an association of rs1799963 with JME. Further studies including other types of epilepsy are required to investigate the involvement of prothrombin gene in the genetic susceptibility to chronic seizure.Keywords: polymorphism, prothrombin, juvenile myoclonic epilepsy. RESUMOEpilepsia mioclônica juvenil (EMJ) representa 26% das síndromes epilépticas idiopáticas generalizadas. Níveis elevados de atividade da trombina estão intimamente envolvidos no desenvolvimento de distúrbios neurológicos, incluindo epilepsia. A variante c.20210G>A (rs1799963) do gene de protrombina, que altera a estabilidade do RNAm, está associada com altos níveis de protrombina no plasma. Objetivo: Investigar se o SNP rs1799963 é um fator de risco para EMJ em uma amostra da população do nordeste brasileiro. Resultados: O polimorfismo foi genotipado em 123 pacientes e 207 controles usando a reação de polimerase em cadeia com restrição de polimorfismo. Não observamos diferença significativa nas frequências alélicas e genotípicas deste polimorfismo, entre as populações de pacientes e controle. Conclusão: Estes resultados não demonstram evidências para uma associação do polimorfismo rs1799963 com EMJ. Estudos posteriores, incluindo outros tipos de epilepsia, são necessários para investigar o envolvimento do gene protrombina na susceptibilidade genética a crises crônicas.Palavras-chave: polimorfismo, protrombina, epilepsia mioclônica juvenil. 290Arq Neuropsiquiatr 2015;73(4):289-292 frequent recurrence is reported after antiepileptic drugs (AED) discontinuation 2 . Genetic factors are known to play an important role in the etiology of JME. Despite the existence of rare mutations responsible for some familial forms inherited in a mendelian pattern, the genetics of JME is complex and probably reflect the simultaneous involvement of multiple genes...

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Influence of the βs haplotype and α-thalassemia on stroke development in a Brazilian population with sickle cell anaemia

et al. 2014

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Stroke is a catastrophic complication of sickle cell anaemia (SCA) and is one of the leading causes of death in both adults and children with SCA. Evidence suggests that some genetic polymorphisms could be related to stroke development, but their association remains controversial. Here, we performed genotyping of five published single nucleotide polymorphisms, the α-thalassemia genotype, the G6PD A (-) variant deficiency, and the β(S) haplotype in a large series of SCA patients with well-defined stroke phenotypes. Of 261 unrelated SCA patients included in the study, 67 (9.5 %) presented a documented, primary stroke event. Markers of haemolysis (red blood cell (RBC) counts, p = 0.023; reticulocyte counts, p = 0.003; haemoglobin (Hb) levels, p < 0.001; indirect bilirubin levels, p = 0.006; lactate dehydrogenase (LDH) levels, p = 0.001) were associated with stroke susceptibility. Genetically, only the β(S) haplotype (odds ratio (OR) 2.9, 95 % confidence interval (CI) 1.56 to 4.31; p = 0.003) and the α(3.7kb)-thalassemia genotype (OR 0.31, 95 % CI 0.11 to 0. 83; p = 0.02) were associated with increased and decreased stroke risk, respectively. In multivariate analysis, the β(S) haplotype was independently associated with stroke development (OR 2.26, 95 % CI 1.16 to 4.4; p = 0.016). Our findings suggest that only the β(S) haplotypes and the α(3.7kb)-thalassemia genotype modulate the prevalence of stroke in our SCA population. Genetic heterogeneity among different populations may account for the irreproducibility amongst different studies.

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Reply: Genetic polymorphisms and cerebrovascular disease in children with sickle cell anemia from Rio de Janeiro, Brazil

Cited by 5 publications

References 11 publications

β^Sglobin gene haplotype and the stroke risk among Egyptian children with sickle cell disease

β^Sglobin gene haplotype and the stroke risk among Egyptian children with sickle cell disease

Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy

Influence of the βs haplotype and α-thalassemia on stroke development in a Brazilian population with sickle cell anaemia

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Reply: Genetic polymorphisms and cerebrovascular disease in children with sickle cell anemia from Rio de Janeiro, Brazil

Cited by 5 publications

References 11 publications

βSglobin gene haplotype and the stroke risk among Egyptian children with sickle cell disease

βSglobin gene haplotype and the stroke risk among Egyptian children with sickle cell disease

Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy

Influence of the βs haplotype and α-thalassemia on stroke development in a Brazilian population with sickle cell anaemia

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β^Sglobin gene haplotype and the stroke risk among Egyptian children with sickle cell disease

β^Sglobin gene haplotype and the stroke risk among Egyptian children with sickle cell disease