A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

Introduction The genetic architecture of Alzheimer's disease (AD) is only partially understood. Methods We conducted an association study for AD using whole sequence data from 507 genetically enriched AD cases (i.e., cases having close relatives affected by AD) and 4917 cognitively healthy controls of European ancestry (EA) and 172 enriched cases and 179 controls of Caribbean Hispanic ancestry. Confirmation of top findings from stage 1 was sought in two family-based genome-wide association study data sets and in a whole genome–sequencing data set comprising members from 42 EA and 115 Caribbean Hispanic families. Results We identified associations in EAs with variants in 12 novel loci. The most robust finding is a rare CASP7 missense variant (rs116437863; P = 2.44 × 10−10) which improved when combined with results from stage 2 data sets (P = 1.92 × 10−10). Discussion Our study demonstrated that an enriched case design can strengthen genetic signals, thus allowing detection of associations that would otherwise be missed in a traditional case-control study.</p

A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

Introduction: The genetic architecture of Alzheimer's disease (AD) is only partially understood. Methods: We conducted an association study for AD using whole sequence data from 507 genetically enriched AD cases (i.e., cases having close relatives affected by AD) and 4917 cognitively healthy controls of European ancestry (EA) and 172 enriched cases and 179 controls of Caribbean Hispanic ancestry. Confirmation of top findings from stage 1 was sought in two family-based genome-wide association study data sets and in a whole genome–sequencing data set comprising members from 42 EA and 115 Caribbean Hispanic families. Results: We identified associations in EAs with variants in 12 novel loci. The most robust finding is a rare CASP7 missense variant (rs116437863; P = 2.44 × 10 −10 ) which improved when combined with results from stage 2 data sets (P = 1.92 × 10 −10 ). Discussion: Our study demonstrated that an enriched case design can strengthen genetic signals, thus allowing detection of associations that would otherwise be missed in a traditional case-control study

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

A correction to this paper has been published and can be accessed via a link at the top of the paper

ESTIMATIVA DA PRESSÃO ARTERIAL DE CRIANÇAS DE 1 A 6 ANOS DE IDADE, COM ESPECIAL REFERÊNCIA À LARGURA DO MANGUITO

A autora apresenta as médias e medidas de dispersão - desvios padrão e percentis - das pressões sistólica e diastólica de crianças de 1 a 6 anos de idade. Utilizando um critério segundo o qual a largura do manguito deve ser igual ao diâmetro do braço mais 20%, aproximadamente, a autora demonstra como a largura do manguito interfere significativamente na leitura da pressão arterial.The author presents means and dispersion\u27s mesures - standards deviations and percentiles - of systolic and diastolic pressures in children from one to six years old. The use of a cuff whose width equals the diameter of the child\u27s arm plus an 20% increase was established. The study evidences a significant influence of this width upon the arterial blood pressure readings. So, when a narrower cuff was emplovedn, the average values of the systolic and diastolic pressures were overestimated and when a cuff large than the established one was used, they were underestimated