SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis
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Updated: Feb 12, 2026

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Published on: February 17, 2023
Haiyang Zhi1, Changan Wu2, Ziqing Yang3
1Department of Neurology, Zhejiang University of Traditional Chinese Medicine Affiliated Wenzhou Hospital, Wenzhou, Zhejiang, China.
Abstract:
To clarify the association between SCN1A rs3812718 polymorphism and epilepsy, we performed an updated meta-analysis. PubMed, Science Direct, Embase, Springer, Google Scholar, and Cochrane databases were searched before January 20, 2018. Odds ratios and 95% confidence intervals were used to assess the strength of associations. Finally, simply eight studies were included in this meta-analysis and all together recruited 7184 individuals, and they consisted of 3595 cases and 3589 controls. Based on the quality evaluation with the NOS, the overall quality of eight studies was scored from seven to eight which indicated good quality. A significant association between SCN1A rs3812718 polymorphism and the risk of epilepsy was detected in the homozygote comparison (OR = 1.64, 95% CI, 1.25-2.15, P = .001, P(BON) = 0.004), and dominant model (OR = 1.36, 95% CI, 1.08-1.72, P < .001, P(BON) < 0.001), but not in heterozygote comparison (OR = 1.22, 95% CI, 0.98-1.53, P = .003, P(BON) = 0.001), and recessive model (OR = 1.35, 95% CI, 1.22-1.49, P = .104, P(BON) = 0.104). In conclusion, our results suggest that SCN1A rs3812718 polymorphism is associated with the risk of epilepsy.
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