Title |
Promoter Variants of the ADAM10 Gene and Their Roles in Temporal Lobe Epilepsy
|
---|---|
Published in |
Frontiers in Neurology, June 2016
|
DOI | 10.3389/fneur.2016.00108 |
Pubmed ID | |
Authors |
Hua Tao, Jianghao Zhao, Xu Zhou, Zhonghua Ma, Ying Chen, Fuhai Sun, Lili Cui, Haihong Zhou, Yujie Cai, Yanyan Chen, Shu Zhao, Lifen Yao, Bin Zhao, Keshen Li |
Abstract |
Previous evidence has indicated that downregulated ADAM10 gives rise to epileptic seizures in Alzheimer's disease, and this study investigated the association of ADAM10 with temporal lobe epilepsy (TLE) from a genetic perspective. A total of 496 TLE patients and 528 healthy individuals were enrolled and genotyped for ADAM10 promoter variants (rs653765 G > A and rs514049 A > C). The alleles, genotypes, and haplotypes were then compared with clarify the association of these variants with TLE and their impacts upon age at onset, initial seizure types before treatments, and responses to drug treatments. In cohorts I, II, and I + II, the frequencies of the A allele and AA genotype at rs514049 were consistently increased in the cases compared with the controls (p = 0.020 and p = 0.009; p = 0.008 and p = 0.009; p = 0.000 and p = 0.000; q = 0.003 and q = 0.002, respectively). In contrast, the frequency of the AC haplotype (rs653765-rs514049) decreased in cohorts I + II (p = 0.013). Further analyses of the TLE patients indicated that the AA genotype functioned as a predisposing factor to drug-resistant TLE and the AC haplotype as a protective factor against generalized tonic-clonic seizures (GTCS) and drug-resistant TLE. This study is the first to demonstrate an association of the ADAM10 promoter variants with TLE. In particular, the AA genotype and AC haplotype showed their effects upon GTCS and drug-resistant TLE. |
X Demographics
As of 1 July 2024, you may notice a temporary increase in the numbers of X profiles with Unknown location. Click here to learn more.
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 50% |
Switzerland | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 12 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 3 | 25% |
Student > Ph. D. Student | 3 | 25% |
Researcher | 2 | 17% |
Lecturer | 1 | 8% |
Student > Bachelor | 1 | 8% |
Other | 1 | 8% |
Unknown | 1 | 8% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 4 | 33% |
Agricultural and Biological Sciences | 2 | 17% |
Pharmacology, Toxicology and Pharmaceutical Science | 2 | 17% |
Chemical Engineering | 1 | 8% |
Psychology | 1 | 8% |
Other | 1 | 8% |
Unknown | 1 | 8% |