| Title |
Case–control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy
|
|---|---|
| Published in |
Human Genetics, December 2013
|
| DOI | 10.1007/s00439-013-1405-1 |
| Pubmed ID | |
| Authors |
Larry Baum, Batoul Sadat Haerian, Ho-Keung Ng, Virginia C. N. Wong, Ping Wing Ng, Colin H. T. Lui, Ngai Chuen Sin, Chunbo Zhang, Brian Tomlinson, Gary Wing-Kin Wong, Hui Jan Tan, Azman Ali Raymond, Zahurin Mohamed, Patrick Kwan |
| Abstract |
High-frequency action potentials are mediated by voltage-gated sodium channels, composed of one large α subunit and two small β subunits, encoded mainly by SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B genes in the brain. These play a key role in epilepsy, with the most commonly mutated gene in epilepsy being SCN1A. We examined whether polymorphisms in the above genes affect epilepsy risk in 1,529 epilepsy patients and 1,935 controls from four ethnicities or locations: Malay, Indian, and Chinese, all from Malaysia, and Chinese from Hong Kong. Of patients, 19 % were idiopathic, 42 % symptomatic, and 40 % cryptogenic. We genotyped 43 polymorphisms: 27 in Hong Kong, 28 in Malaysia, and 12 in both locations. The strongest association with epilepsy was rs3812718, or SCN1A IVS5N+5G>A: odds ratio (OR) = 0.85 for allele G (p = 0.0009) and 0.73 for genotype GG versus AA (p = 0.003). The OR was between 0.76 and 0.87 for all ethnicities. Meta-analysis confirmed the association (OR = 0.81 and p = 0.002 for G, and OR = 0.67 and p = 0.007 for GG versus AA), which appeared particularly strong for Indians and for febrile seizures. Allele G affects splicing and speeds recovery from inactivation. Since SCN1A is preferentially expressed in inhibitory neurons, G may decrease epilepsy risk. SCN1A rs10188577 displayed OR = 1.20 for allele C (p = 0.003); SCN2A rs12467383 had OR = 1.16 for allele A (p = 0.01), and displayed linkage disequilibrium with rs2082366 (r (2) = 0.67), whose genotypes tended toward association with SCN2A brain expression (p = 0.10). SCN1A rs2298771 was associated in Indians (OR = 0.56, p = 0.005) and SCN2B rs602594 with idiopathic epilepsy (OR = 0.62, p = 0.002). Therefore, sodium channel polymorphisms are associated with epilepsy. |
X Demographics
The data shown below were collected from the profiles of 4 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Ireland | 1 | 25% |
| Unknown | 3 | 75% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 75% |
| Practitioners (doctors, other healthcare professionals) | 1 | 25% |
Mendeley readers
The data shown below were compiled from readership statistics for 54 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Ethiopia | 1 | 2% |
| United States | 1 | 2% |
| Unknown | 52 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 11 | 20% |
| Student > Ph. D. Student | 8 | 15% |
| Student > Bachelor | 6 | 11% |
| Other | 6 | 11% |
| Student > Master | 5 | 9% |
| Other | 10 | 19% |
| Unknown | 8 | 15% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 19 | 35% |
| Biochemistry, Genetics and Molecular Biology | 6 | 11% |
| Agricultural and Biological Sciences | 6 | 11% |
| Neuroscience | 5 | 9% |
| Computer Science | 1 | 2% |
| Other | 2 | 4% |
| Unknown | 15 | 28% |
Attention Score in Context
This research output has an Altmetric Attention Score of 9. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 12 April 2014.
All research outputs
#3,263,870
of 22,736,112 outputs
Outputs from Human Genetics
#292
of 2,951 outputs
Outputs of similar age
#40,092
of 307,365 outputs
Outputs of similar age from Human Genetics
#3
of 21 outputs
Altmetric has tracked 22,736,112 research outputs across all sources so far. Compared to these this one has done well and is in the 84th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,951 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.2. This one has done well, scoring higher than 88% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 307,365 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 86% of its contemporaries.
We're also able to compare this research output to 21 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 85% of its contemporaries.