Dataset Information

Association between BACE1 gene polymorphisms and focal seizures in a Chinese Han population.

ABSTRACT: Beta-secretase 1 (BACE1) is attracting increasing attention for its vital role in pathogenesis of many neuropsychiatric disorders and many studies also have indicated BACE1 as a possible risk factor for seizures, but not any studies have reported association between BACE1 gene polymorphisms and seizures. Therefore, we investigated the possible association between focal seizures and BACE1 gene polymorphisms in the present study.A total of 162 patients and 211 health controls were enrolled in this study and polymorphisms of BACE1 gene were detected using polymerase chain reaction (PCR)-ligase detection reaction method.The frequency of genotype AT for BACE1 rs535860 (A>T) was significantly higher (24.1%) in patients compared to controls (14.7%) (OR?=?1.836, 95% CI?=?1.086-3.102, P?=?.023). Intriguingly, we only found the significant difference of BACE1 SNP genotype and allele frequency among males but not females. However, no statistically significant results were presented for the genotype distributions of rs525493 (G>T) and rs638405(C>G) polymorphisms between patients and controls.Our study demonstrated there may exist an association between BACE1 rs535860 (A>T) polymorphism and focal seizures in Chinese Han males.

SUBMITTER: Yang G

PROVIDER: S-EPMC5895388 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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Association between BACE1 gene polymorphisms and focal seizures in a Chinese Han population.

Yang Guangsheng G Wang Haidong H He Xin X Xu Pengfei P Dang Ruili R Feng Qingyan Q Jiang Pei P

Medicine 20180301 13

<h4>Background</h4>Beta-secretase 1 (BACE1) is attracting increasing attention for its vital role in pathogenesis of many neuropsychiatric disorders and many studies also have indicated BACE1 as a possible risk factor for seizures, but not any studies have reported association between BACE1 gene polymorphisms and seizures. Therefore, we investigated the possible association between focal seizures and BACE1 gene polymorphisms in the present study.<h4>Methods</h4>A total of 162 patients and 211 he ...[more]

PMID: 29595667

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Project description:Several studies have reported the association between MAPK signaling pathway gene polymorphisms and papillary thyroid carcinoma (PTC). KRAS gene, an oncogene from the mammalian RAS gene family plays an important role in the MAPK pathway. This study aimed to identify the potential association of KRAS gene polymorphisms with susceptibility to PTC in a Han Chinese population. A total of 861 patients with PTC, 562 disease controls with nodular goiter and 897 healthy controls were recruited. Four tagSNP polymorphisms (rs12427141, rs712, rs7315339 and rs7960917) of KRAS gene were genotyped by matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS). Statistical analyses and haplotype estimations were conducted using Haploview and Unphased softwares. Only significant differences were observed in genotypic frequencies of the rs7315339 polymorphism (?2 =7.234, df=2, p=0.027) between PTC and disease controls. Statistically significant differences in both allelic and genotypic genotypes frequencies for rs712 (Genotype, ?2=8.258, p=0.016) and rs12427141 (Allele, ?2=3.992, p=0.046; Genotype, ?2=8.140, p=0.017) were observed between PTC patients and controls. Haplotype analyses revealed higher frequencies of GA and TA haplotypes (p=0.039 and p=0.003, respectively) from rs712- rs12427141 (two-SNP) or TGA and TTG haplotype containing the alleles from rs7960917, rs712 and rs12427141, as well as the GAT haplotype containing the alleles from rs712, rs12427141 and rs7315339 in PTC patients than in healthy controls (p=0.042, p=0.037, p=0.027, respectively). Inversely, the haplotype TTA from rs7960917, rs712 and rs12427141 or the haplotype TAC from rs712, rs12427141 and rs7315339 was significantly less frequent in the PTC patients than in normal control (p=0.003, p=0.003, respectively). These findings suggest the role of these KRAS gene variants in susceptibility to PTC. Moreover, significant differences of the KRAS gene polymorphisms may occur between nodular goiter and PTC.

Dataset Information

Association between BACE1 gene polymorphisms and focal seizures in a Chinese Han population.

Publications

Association between BACE1 gene polymorphisms and focal seizures in a Chinese Han population.

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