No association between polymorphisms in the calcium homeostasis modulator 1 gene and mesial temporal lobe epilepsy risk in a Chinese population

Purpose: Mesial temporal lobe epilepsy (MTLE) is one of the most common forms of epilepsies in adults. The calcium homeostasis modulator 1 gene (CALHM1) has been considered one of the candidate genes that play a role in epileptogenesis due to its function in calcium homeostasis and amyloid beta (A beta) regulation. Recently, the association of a single nucleotide polymorphism (rs11191692) of CALHM1 has been reported to be associated with MTLE in Han Chinese, but independent replication is needed. In the present study, rs11191692 and rs2986017 of CALHM1 were determined in 512 MTLE patients and 412 control subjects to investigate the possible involvement of CALHM1 in the etiology of MTLE. Method: Genotyping was determined by polymerase chain reaction-restriction fragment length polymorphism method. Major statistical analyses were performed by SAS. Results: No significant differences in the genotypic or allelic frequencies of both single-nucleotide polymorphisms were revealed between subjects with and without MTLE (rs11191692: P = 0.890 and 0.230; rs2986017: P = 0.581 and 0.072). Further stratification analysis by gender and age, and analysis of clinical features in relation to MTLE also yielded negative results. Conclusion: rs11191692 and rs2986017 of CALHM1 do not contribute substantially to MTLE in Han Chinese. (C) 2013 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.