Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer’s disease

Robust age at onset linkage analysis in nuclear families.

OBJECTIVE Standard methods for linkage analysis ignore the phenotype of the parents when they are not genotyped. However, this information can be useful for gene mapping. In this paper we propose methods for age at onset genetic linkage analysis in sibling pairs, taking into account parental age at onset. METHODS Two new score statistics are derived, one from an additive gamma frailty model a...

Genetic Modifiers of Age at Onset in Carriers of the G206A Mutation in PSEN1 With Familial Alzheimer Disease Among Caribbean Hispanics.

IMPORTANCE The present study identified potential genetic modifiers that may delay or accelerate age at onset of familial Alzheimer disease (AD) by examining age at onset in PSEN1 mutation carrier families, and further investigation of these modifiers may provide insight into the pathobiology of AD and potential therapeutic measures. OBJECTIVE To identify genetic variants that modify age at o...

Heritability and linkage analysis of appendicitis utilizing age at onset.

Appendicitis usually afflicts the young, but there is a large tail in the distribution of onset age. The genetics of this disease are still not well understood. A heritability analysis and genome wide linkage analysis of a large twin dataset was undertaken. Treating age of onset of appendicitis as a censored survival trait revealed a heritability of 0.21, and found evidence of linkage to Chromo...

Familial correlations for age at onset and age at death in Huntington's disease.

Disease-related mutations among Caribbean Hispanics with familial dementia

Pathogenic mutations in the three known genes - the amyloid precursor protein (APP), presenilin 1 (PSEN1), presenilin 2 (PSEN2) - are known to cause familial Alzheimer's disease (AD) and tend to be associated with early-onset AD. However, the frequency and risk associated with these mutations vary widely. In addition, mutations in the frontotemporal lobar degeneration (FTLD) genes - the microtu...