Alternative titles; symbols
HGNC Approved Gene Symbol: AD7
ORPHA: 1020; DO: 0110039;
Cytogenetic location: 10p13 Genomic coordinates (GRCh38) : 10:12,200,001-17,300,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 10p13 | Alzheimer disease-7 | 606187 | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see 104300.
In a systematic survey of the human genome in patients with AD, Zubenko et al. (1998) identified D10S1423, located at 10p13, as a candidate susceptibility locus. The allelic associations in this survey were observed in independent samples of autopsied AD cases and controls from geographically disparate sites (Boston and Pittsburgh). Majores et al. (2000) replicated these findings by identifying an association of the D10S1423 234-bp allele with AD in an ethnically homogeneous group of 397 German AD cases and controls.
Zubenko et al. (2001) described a prospective, longitudinal, double-blind assessment of the age-specific risk of AD encountered by 325 asymptomatic first-degree relatives of AD probands who carried the D10S1423 234-bp allele, the APOE E4 allele (107741), or both, after 11.5 years of systematic follow-up. They found that with the best-fitting model, only individuals who carried both risk alleles exhibited a risk ratio that differed significantly from 1. After controlling for these genotypes, female gender was also significantly associated with increased risk of developing AD.
Majores, M., Bagli, M., Papassotiropoulos, A., Schwab, S. G., Jennen, F., Rao, M. L., Maier, W., Heun, R. Allelic association between the D10S1423 marker and Alzheimer's disease in a German population. Neurosci. Lett. 289: 224-226, 2000. [PubMed: 10961670] [Full Text: https://doi.org/10.1016/s0304-3940(00)01283-0]
Zubenko, G. S., Hughes, H. B., Stiffler, J. S., Hurtt, M. R., Kaplan, B. B. A genome survey for novel Alzheimer disease risk loci: results at 10-cM resolution. Genomics 50: 121-128, 1998. [PubMed: 9653640] [Full Text: https://doi.org/10.1006/geno.1998.5306]
Zubenko, G. S., Hughes, H. B., III, Stiffler, J. S. D10S1423 identifies a susceptibility locus for Alzheimer's disease in a prospective, longitudinal, double-blind study of asymptomatic individuals. Molec. Psychiat. 6: 413-419, 2001. [PubMed: 11443525] [Full Text: https://doi.org/10.1038/sj.mp.4000900]