Department of Medical Biology and Genetics, Faculty of Medicine, University of Kocaeli, 41380, Kocaeli, Turkey.
Department of Neurology, Istanbul Faculty of Medicine, University of Istanbul, 34260, Capa, Istanbul, Turkey.
Mol Neurobiol. 2016 Aug;53(6):4197-4200. doi: 10.1007/s12035-015-9364-2. Epub 2015 Jul 28.
Here, we report the association of the rs694539 variant of nicotinamide-N-methyltransferase gene with epilepsy in a case-control study of 215 patients with epilepsy and 239 healthy controls (χ (2) = 11.641, P = 0.003). The individuals with the GG genotype revealed protection against epilepsy (χ (2) = 5.866, P = 0.015, OR = 0.623, 95 % CI = 0.425-0.915), whereas the individuals with the AA genotype showed statistically significant increased risk for epilepsy (χ (2) = 8.676, P = 0.003, OR = 5.479, 95 % CI = 1.553-19.337). In addition, the G allele was protective against epilepsy (χ (2) = 8.676, P = 0.003, OR = 0.183, 95 % CI = 0.052-0.644); on the contrary, the A allele was a genetic risk factor for epilepsy (χ (2) = 5.866, P = 0.015, OR = 1.604, 95 % CI = 1.093-2.354). Stratification analysis revealed that the association was statistically significant in male patients with epilepsy (χ (2) = 6.682, P = 0.035). However, the statistical power was only 0.33 in female patients with epilepsy (χ (2) = 5.275, P = 0.072). This finding, for the first time, suggests the involvement of the NNMT gene rs694539 variant in the etiology of epilepsy.
在这里，我们在一项包括 215 例癫痫患者和 239 例健康对照的病例对照研究中报道了烟酰胺 N-甲基转移酶基因 rs694539 变异与癫痫的关联（χ²=11.641，P=0.003）。与 GG 基因型个体相比，携带 GG 基因型的个体对癫痫具有保护作用（χ²=5.866，P=0.015，OR=0.623，95%CI=0.425-0.915），而携带 AA 基因型的个体患癫痫的风险显著增加（χ²=8.676，P=0.003，OR=5.479，95%CI=1.553-19.337）。此外，G 等位基因对癫痫具有保护作用（χ²=8.676，P=0.003，OR=0.183，95%CI=0.052-0.644）；相反，A 等位基因是癫痫的遗传风险因素（χ²=5.866，P=0.015，OR=1.604，95%CI=1.093-2.354）。分层分析显示，这种关联在男性癫痫患者中具有统计学意义（χ²=6.682，P=0.035）。然而，在女性癫痫患者中，统计效力仅为 0.33（χ²=5.275，P=0.072）。这一发现首次表明 NNMT 基因 rs694539 变异与癫痫的病因有关。
