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Oxidative stress-related genetic variants, in particular, the according to Igor F. Domingos of the Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil, and colleagues.
The researchers genotyped 499 unrelated adult patients with sickle cell anemia (SCA) for a variety of polymorphisms, along with alpha-thalassemia status and beta-globin gene haplotypes.
They found that SOD2 Val16Ala polymorphism was independently associated with risk of stroke (odds ratio, 1.98; 95% confidence interval, 1.18-3.32; P = .009) and with the long-term cumulative incidence of stroke (hazard ratio, 2.24; 95% CI, 1.3-3.9; P = .004).
A crucial limitation identified by the authors was the inability to replicate their results in a validation cohort. They suggested that there could have been genetic differences between the Brazilian population and the validation cohort of 231 patients followed at King’s College London for whom biological samples was available. They also suggested that patient treatment history between the two countries may be a factor.
“We believe that our study represents an alternative for understudied SCA populations with no access to TCD [transcranial Doppler ultrasound screening] and imaging exams, in which genetic modifiers may be a useful tool for predicting stroke in SCA,” the authors concluded.
The authors reported that they had no competing financial interests.
[email protected]
SOURCE: Domingos IF et al. J Neurol Sci. 2020 Apr 16; doi: 10.1016/j.jns.2020.116839.
Oxidative stress-related genetic variants, in particular, the according to Igor F. Domingos of the Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil, and colleagues.
The researchers genotyped 499 unrelated adult patients with sickle cell anemia (SCA) for a variety of polymorphisms, along with alpha-thalassemia status and beta-globin gene haplotypes.
They found that SOD2 Val16Ala polymorphism was independently associated with risk of stroke (odds ratio, 1.98; 95% confidence interval, 1.18-3.32; P = .009) and with the long-term cumulative incidence of stroke (hazard ratio, 2.24; 95% CI, 1.3-3.9; P = .004).
A crucial limitation identified by the authors was the inability to replicate their results in a validation cohort. They suggested that there could have been genetic differences between the Brazilian population and the validation cohort of 231 patients followed at King’s College London for whom biological samples was available. They also suggested that patient treatment history between the two countries may be a factor.
“We believe that our study represents an alternative for understudied SCA populations with no access to TCD [transcranial Doppler ultrasound screening] and imaging exams, in which genetic modifiers may be a useful tool for predicting stroke in SCA,” the authors concluded.
The authors reported that they had no competing financial interests.
[email protected]
SOURCE: Domingos IF et al. J Neurol Sci. 2020 Apr 16; doi: 10.1016/j.jns.2020.116839.
Oxidative stress-related genetic variants, in particular, the according to Igor F. Domingos of the Genetics Postgraduate Program, Federal University of Pernambuco, Recife, Brazil, and colleagues.
The researchers genotyped 499 unrelated adult patients with sickle cell anemia (SCA) for a variety of polymorphisms, along with alpha-thalassemia status and beta-globin gene haplotypes.
They found that SOD2 Val16Ala polymorphism was independently associated with risk of stroke (odds ratio, 1.98; 95% confidence interval, 1.18-3.32; P = .009) and with the long-term cumulative incidence of stroke (hazard ratio, 2.24; 95% CI, 1.3-3.9; P = .004).
A crucial limitation identified by the authors was the inability to replicate their results in a validation cohort. They suggested that there could have been genetic differences between the Brazilian population and the validation cohort of 231 patients followed at King’s College London for whom biological samples was available. They also suggested that patient treatment history between the two countries may be a factor.
“We believe that our study represents an alternative for understudied SCA populations with no access to TCD [transcranial Doppler ultrasound screening] and imaging exams, in which genetic modifiers may be a useful tool for predicting stroke in SCA,” the authors concluded.
The authors reported that they had no competing financial interests.
[email protected]
SOURCE: Domingos IF et al. J Neurol Sci. 2020 Apr 16; doi: 10.1016/j.jns.2020.116839.
FROM THE JOURNAL OF NEUROLOGICAL SCIENCES
Key clinical point: SOD2 Val16Ala polymorphism may represent a simple and inexpensive alternative for identifying sickle cell patients at risk of stroke.
Major finding: SOD2 Val16Ala polymorphism was independently associated with an increased risk of stroke (odds ratio, 1.98; P = .009).
Study details: A total of 499 unrelated adult patients with sickle cell disease were genotyped.
Disclosures: The authors reported that they had no competing financial interests.
Source: Domingos IF et al. J Neurol Sci. 2020 Apr 16. doi: org/10.1016/j.jns.2020.116839.