Biomedical subjects

Karen Maresso

Publications and source records attributed to Karen Maresso.

4 recordsLinked to original sources

PubMed2006

Linkage analysis for complex diseases using variance component analysis: SOLAR.

Variance component linkage analysis has become one of the most popular tools for the analysis of poly genic phenotypes. In particular for cardiovascular disease, such as coronary artery disease and myocardial infarction, variance component analysis holds some unique advantages. This analysis approach is versatile, affording the user the ability to incorporate the interplay between risk factors, genetic susceptibility, the effect of environmental factors, or the joint analysis of multiple phenotypes in the analysis. In this chapter, we present as an introduction the statistical background of variance component analysis as implemented in the genetic analysis package SOLAR.

Analysis of Variance↗

PubMed2006

Functional genomics and its implications for molecular medicine.

Technological development in genetics and genomics provides unprecedented possibilities to identify the underlying molecular basic of many common diseases. With the availability of the human genome sequence and growing information on the most frequent DNA variations combined with the molecular analysis on the RNA expression and protein level, diseases might be characterized in the future at the molecular level. Describing gene function anf the specific role of DNA, RNA, and proteins in the disease process provides novel diagnosis tools and treatment. Ultimately how the unique genetic signature of an individual influences the risk and prognosis of disease will be the basis for individualized medicine in the years to come.

DNA Mutational Analysis↗

PubMed2006

Genomics of acute lung injury.

Acute lung injury (ALI) is a complex syndrome involving the interplay of both environmental (such as the addition of mechanical ventilation) and genetic factors. Clinical models have identified risk factors for development and poor outcome but these strategies remain imprecise. To better understand the mechanisms of pathogenesis associated with mechanisms of ALI, candidate genes identified by global expression profiling or related literature searches are being explored for relevant polymorphisms (single base pair substitutions) that can affect both ALI susceptibility and outcome. This article summarizes several specific genetic association studies that have been conducted in ALI and reviews supporting data from in vitro and in vivo models of the disease and clinical observations. Although valuable information has been reported to date, intense analyses are needed in this developing discipline to assure significant clinical utility. The detailing of specific associated polymorphisms will continue to provide new insights in the understanding of disease pathogenesis, and promise to reveal novel molecular targets and personalized treatments to prevent the disease.

Case-Control Studies↗

PubMed2004

CARD15 gene mutations and risk for early surgery in pediatric-onset Crohn's disease.

BACKGROUND & AIMS: The risk for Crohn's disease (CD) is determined in part by genetic factors. Three recently described mutations in the CARD15(NOD2) gene have been associated with adult-onset CD. We investigated the effect of CARD15 mutations on disease manifestation, disease progression, and the risk for early surgery in childhood-onset CD. METHODS: Genotyping for 3 CARD15 mutations: R702W, G908R, and 3020insC, was performed in 186 children with CD from a prospective cohort. A transmission-disequilibrium test was used to test for association with CD. Genotype with disease location and behavior was tested with logistic regression analysis. The effect of mutations on surgical outcome was evaluated using a Cox proportional hazard analysis. RESULTS: The mean age at CD diagnosis was 12.4 years. The frequency of allelic mutations observed was 6.6% for R702W, 6% for G908R, and 13.1% for 3020insC. Of Caucasian CD children, 42% had at least one CARD15 mutation. None of the non-Caucasian children with CD had any CARD15 mutation. A significant association was detected for 3020insC (P = .0045). Ileal location (odds ratio, 4.3; P = .003) and stricturing disease (odds ratio, 6.6; P = .0001) was more frequent and the risk for surgery was higher (hazard ratio, 5.8; P < .0001) and surgery occurred earlier (hazard ratio, 2.24) in those children with 3020insC mutation compared with those without 3020insC. CONCLUSIONS: In children with pediatric-onset CD, early development of stricturing behavior leading to surgical resection is influenced by ileal location and 3020insC variant of the CARD15 mutation. Genetic testing may identify children with CD who are at risk for early surgery.

Adolescent↗