A polymorphism in CALHM1 is associated with temporal lobe epilepsy

Abstract A recent study suggests that the P86L polymorphism (rs2986017) in the calcium homeostasis modulator 1 (CALHM1) gene interferes with calcium homeostasis and increases amyloid β (Aβ) levels. Moreover, in vitro and in vivo data show that both calcium homeostasis and high levels of Aβ play an i...

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Bibliographic Details
Published in:Epilepsy & behavior 2011-04, Vol.20 (4), p.681-685
Main Authors: Lv, Rui-juan, He, Jin-sheng, Fu, Yuan-hui, Shao, Xiao-qiu, Wu, Li-wen, Lu, Qiang, Jin, Li-ri, Liu, Hui
Format: Article
Language:English
Subjects:
Adult
Apolipoprotein E
Apolipoprotein E4 - genetics
Association
Calcium Channels - genetics
Calcium homeostasis modulator 1
Chi-Square Distribution
Epilepsy, Temporal Lobe - genetics
Female
Gene Frequency
Genetic Predisposition to Disease
Genetics
Genome-Wide Association Study
Genotype
Humans
Male
Membrane Glycoproteins - genetics
Middle Aged
Neurology
Polymorphism
Polymorphism, Single Nucleotide - genetics
Temporal lobe epilepsy
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Summary:Abstract A recent study suggests that the P86L polymorphism (rs2986017) in the calcium homeostasis modulator 1 (CALHM1) gene interferes with calcium homeostasis and increases amyloid β (Aβ) levels. Moreover, in vitro and in vivo data show that both calcium homeostasis and high levels of Aβ play an important role in the induction and maintenance of epileptic seizures in hippocampus, indicating CALHM1 might play a potential role in pathophysiological pathways involved in temporal lobe epilepsy (TLE). The aim of this study was to investigate the genetic contribution of CALHM1 to TLE. Five single-nucleotide polymorphisms (SNPs) of CALHM1 were selected and genotyped using polymerase chain reaction restriction fragment length polymorphism in 560 patients with TLE and 401 healthy controls. We found a positive association between rs11191692 and TLE, but a negative result between rs2986017 and TLE. The rs11191692-A allele frequency was found in 32.4% of the patients and in 26.2% of control subjects (OR = 1.35, 95% CI = 1.10–1.65, uncorrected P = 0.003, corrected P = 0.015). Furthermore, the positive association between rs11191692 and TLE independent of apolipoprotein E ε4 was supported by five SNPs haplotype analysis. The results of this study provide the first evidence that the SNP rs11191692 in CALHM1 confers highly increased susceptibility to TLE.
ISSN:1525-5050
1525-5069
DOI:10.1016/j.yebeh.2011.02.007