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Role of ABCB1 Genetic Variants in Predisposition to Epilepsy Among the Population In Jordan

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Abstract Background Epilepsy is a chronic disorder with a higher prevalence in low- and middle-income countries. ATP-binding cassette superfamily B1 ( ABCB1 ) lies not only in its potential influence on the resistance to antiepileptic drugs but also in its possible role in the occurrence of epilepsy. Purpose To evaluate the association of ABCB1 polymorphisms, c.1236C > T(rs1128503), c.2677G > T(rs2032582), and c.3435C > T(rs1045642), with epilepsy susceptibility in the Jordanian cohort. Subjects and methods: Eighty-six cases of patients with epilepsy were analyzed using polymerase chain reaction (PCR) for ABCB1 c.1236C > T, c.2677G > T, and c.3435C > T gene variants. The proportions of genotype and allele in the epilepsy group were compared with one hundred healthy controls who were previously also analyzed by PCR. Results The C alleles of the ABCB1 polymorphisms c.1236C > T and c.3435C > T were more prevalent in the epilepsy group than in controls. The patients with epilepsy were less likely to have the TT genotype compared with controls (concerning ABCB1 c.1236C > T) (OR TT vs CC =0.42; 95%CI = [0.19–0.91]; p = 0.019). The CC genotype of ABCB1 c.3435C > T was more frequent in epileptics than healthy people (OR CC vs TT =4.3; 95%CI = [1.8–9.95]; p = 0.0007). No significant difference in ABCB1 c.2677G > T allelic and genotypic frequencies was observed between epileptic cases and healthy volunteers. Conclusion Our results revealed that ABCB1 c.1236C > T and c.3435C > T genotypes and alleles play a role in susceptibility to epilepsy. Also, the present study identified no significant association between ABCB1 c.2677G > T and the occurrence of epilepsy.
Title: Role of ABCB1 Genetic Variants in Predisposition to Epilepsy Among the Population In Jordan
Description:
Abstract Background Epilepsy is a chronic disorder with a higher prevalence in low- and middle-income countries.
ATP-binding cassette superfamily B1 ( ABCB1 ) lies not only in its potential influence on the resistance to antiepileptic drugs but also in its possible role in the occurrence of epilepsy.
Purpose To evaluate the association of ABCB1 polymorphisms, c.
1236C > T(rs1128503), c.
2677G > T(rs2032582), and c.
3435C > T(rs1045642), with epilepsy susceptibility in the Jordanian cohort.
Subjects and methods: Eighty-six cases of patients with epilepsy were analyzed using polymerase chain reaction (PCR) for ABCB1 c.
1236C > T, c.
2677G > T, and c.
3435C > T gene variants.
The proportions of genotype and allele in the epilepsy group were compared with one hundred healthy controls who were previously also analyzed by PCR.
Results The C alleles of the ABCB1 polymorphisms c.
1236C > T and c.
3435C > T were more prevalent in the epilepsy group than in controls.
The patients with epilepsy were less likely to have the TT genotype compared with controls (concerning ABCB1 c.
1236C > T) (OR TT vs CC =0.
42; 95%CI = [0.
19–0.
91]; p = 0.
019).
The CC genotype of ABCB1 c.
3435C > T was more frequent in epileptics than healthy people (OR CC vs TT =4.
3; 95%CI = [1.
8–9.
95]; p = 0.
0007).
No significant difference in ABCB1 c.
2677G > T allelic and genotypic frequencies was observed between epileptic cases and healthy volunteers.
Conclusion Our results revealed that ABCB1 c.
1236C > T and c.
3435C > T genotypes and alleles play a role in susceptibility to epilepsy.
Also, the present study identified no significant association between ABCB1 c.
2677G > T and the occurrence of epilepsy.

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