Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus / 中国当代儿科杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus (GEFS+), and to provide potential molecular targets for the diagnosis and treatment of GEFS+.</p><p><b>METHODS</b>The iPLEX technique in the MassARRAY system was used to determine SCN1A rs3812718 polymorphism, genotype frequency, and allele frequency in 50 patients with GEFS+ and 50 healthy controls.</p><p><b>RESULTS</b>As for the frequencies of CC, CT, and TT genotypes in SCN1A rs3812718, there was a significant difference in the frequency of TT genotype between the GEFS+ group and the control group (P<0.05). There was also a significant difference in the frequency of T allele between the two groups (P<0.05). Compared with those carrying CC genotype or C allele, the individuals with CT genotype , TT genotype or T allele had a higher risk of developing GEFS+ (CT/CC OR=4.05, 95%CI 1.04-15.69; TT/CC OR=30.60, 95%CI 6.46-144.85; T/C OR=4.64, 95%CI 2.54-8.48).</p><p><b>CONCLUSIONS</b>SCN1A rs3812718 polymorphism is a risk factor for GEFS+, and the population carrying T allele may have an increased risk of GEFS.</p>