ArticleAmerican journal of human genetics2005
Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample.
Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24 citing papers in PubMed, 49 citations in OpenAlex.
- Alzheimer's disease/dementia-associated brain pathology in aging DPP6-KO mice.Neurobiology of disease · 2022Article
- Neuronal Roles of the Multifunctional Protein Dipeptidyl Peptidase-like 6 (DPP6).International journal of molecular sciences · 2022Review
- Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer's disease in the European American population.Acta neuropathologica · 2021Article
- Reply: Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer's disease in the European American population.Acta neuropathologica · 2021Article
- Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.Acta neuropathologica · 2019Article
- Analysis of pedigree data in populations with multiple ancestries: Strategies for dealing with admixture in Caribbean Hispanic families from the ADSP.Genetic epidemiology · 2018Article
- Linkage analyses in Caribbean Hispanic families identify novel loci associated with familial late-onset Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2015Article
- A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy.JAMA neurology · 2015Article
- The genetics of Alzheimer disease.Cold Spring Harbor perspectives in medicine · 2012Review
- Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2011Article
- Interactome mapping suggests new mechanistic details underlying Alzheimer's disease.Genome research · 2011Article
- Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.PLoS genetics · 2011Article
- The future of genetic research on neurodegeneration.Nature medicine · 2010Article
- Identifying loci for the overlap between attention-deficit/hyperactivity disorder and autism spectrum disorder using a genome-wide QTL linkage approach.Journal of the American Academy of Child and Adolescent Psychiatry · 2010Article
- Evidence for three loci modifying age-at-onset of Alzheimer's disease in early-onset PSEN2 families.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2010Article
- Use of genetic variation as biomarkers for mild cognitive impairment and progression of mild cognitive impairment to dementia.Journal of Alzheimer's disease : JAD · 2010Review
- Endophenotypes in normal brain morphology and Alzheimer's disease: a review.Neuroscience · 2009Review
- Use of genetic variation as biomarkers for Alzheimer's disease.Annals of the New York Academy of Sciences · 2009Review
- Genetic aspects of Alzheimer disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2008Review
- Alzheimer's disease: epidemiology, genetics, and beyond.Neuroscience bulletin · 2008Review
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Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We obtained conclusive linkage of Alzheimer disease (AD) with a candidate region of 19.7 cM at 7q36 in an extended multiplex family, family 1270, ascertained in a population-based study of early-onset AD in the northern Netherlands. Single-nucleotide polymorphism and haplotype association analyses of a Dutch patient-control sample further supported the linkage at 7q36. In addition, we identified a shared haplotype at 7q36 between family 1270 and three of six multiplex AD-affected families from the same geographical region, which is indicative of a founder effect and defines a priority region of 9.3 cM. Mutation analysis of coding exons of 29 candidate genes identified one linked synonymous mutation, g.38030G-->C in exon 10, that affected codon 626 of the PAX transactivation domain interacting protein gene (PAXIP1). It remains to be determined whether PAXIP1 has a functional role in the expression of AD in family 1270 or whether another mutation at this locus explains the observed linkage and sharing. Together, our linkage data from the informative family 1270 and the association data in the population-based early-onset AD patient-control sample strongly support the identification of a novel AD locus at 7q36 and re-emphasize the genetic heterogeneity of AD.
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