Predicted gene sequence C10orf112 is transcribed, exhibits tissue-specific expression, and may correspond to AD7.

Case-control and prospective longitudinal studies have revealed an interaction of the anonymous D10S1423 234 bp allele with the APOE4 allele in determining the age-specific risk of Alzheimer's disease (AD). The D10S1423 polymorphism resides within intron 10 of open reading frame C10orf112, whose predicted product resembles a low-density lipoprotein receptor (NCBI Build 35.1). These observations suggest that the D10S1423 234 bp allele may be in linkage disequilibrium with a C10orf112 gene variant whose product interacts with the apoE4 lipoprotein. Our initial exploration of this hypothesis focused on validating the C10orf112 gene model. RT-PCR amplification from human hippocampal mRNA confirmed that 34 of the predicted 39 exons of C10orf112 were expressed in this brain region. Northern blots revealed 1.2 kb and 3.2 kb mRNA species that hybridize to a cDNA probe consisting of contiguous exons 23-26. Expression of these C10orf112 mRNA species was limited to a subset of brain regions and heart tissue.