The nicotinic acetylcholine receptor alpha 4 subunit contains a functionally relevant SNP Haplotype.

ABSTRACT:

Background

Non-coding single nucleotide polymorphisms within the nicotinic acetylcholine receptor alpha 4 subunit gene (CHRNA4) are robustly associated with various neurological and behavioral phenotypes including schizophrenia, cognition and smoking. The most commonly associated polymorphisms are located in exon 5 and segregate as part of a haplotype. So far it is unknown if this haplotype is indeed functional, or if the observed associations are an indirect effect caused by linkage disequilibrium with not yet identified adjacent functional variants. We therefore analyzed the functional relevance of the exon 5 haplotype alleles.

Results

Using voltage clamp experiments we were able to show that the CHRNA4 haplotype alleles differ with respect to their functional effects on r

SUBMITTER: Eggert M 

PROVIDER: S-EPMC4417232 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature