In this paper we investigate the power of finding linkage to a disease locus through analysis of the disease-related traits. We propose two family-based gene-model-free linkage statistics. Both involve considering the distribution of the number of alleles identical by descent with the proband and comparing siblings with the disease-related trait to those without the disease-related-trait. The objective is to find linkages to disease-related traits that are pleiotropic for both the disease and the disease-related-traits. The power of these statistics is investigated for Kofendrerd Personality Disorder-related traits a (Joining/founding cults) and trait b (Fear/discomfort with strangers) of the simulated data. The answers were known prior to the execution of the reported analyses. We find that both tests have very high power when applied to the samples created by combining the data of the three cities for which we have nuclear family data.
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http://dx.doi.org/10.1186/1471-2156-6-S1-S47 | DOI Listing |
Alzheimers Dement
December 2024
Centre for Precision Health, Edith Cowan University, Joondalup, Western Australia, Australia.
Background: Epigenome-wide association studies (EWAS) have identified multiple loci that are differentially methylated in Alzheimer's disease (AD). However, for complex diseases such as AD, single methylation sites associated with disease and disease-related traits have relatively low effect sizes. At the genetic level, measures of cumulative genetic risk, such as polygenetic risk scores, have yielded success in risk prediction as well as in association and interaction studies.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Centre for Precision Health, Edith Cowan University, Joondalup, Western Australia, Australia.
Background: Epigenome-wide association studies (EWAS) have identified multiple loci that are differentially methylated in Alzheimer's disease (AD). However, for complex diseases such as AD, single methylation sites associated with disease and disease-related traits have relatively low effect sizes. At the genetic level, measures of cumulative genetic risk, such as polygenetic risk scores, have yielded success in risk prediction as well as in association and interaction studies.
View Article and Find Full Text PDFCancers (Basel)
December 2024
Haematopathology Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Background: Classical Hodgkin's lymphoma (cHL) in adolescents between 15 and 18 years old shows a higher disease-related mortality, and the overall prognosis is worse than in both children and adults.
Objectives: We investigated the immune checkpoint inhibitors (ICPIs) therapeutic targets and specific T-regulatory and cytotoxic T-cell subsets in the subgroup of adolescent cHL patients, and we challenged their prognostic power.
Methods: We retrieved formalin-fixed paraffin-embedded (FFPE) tissue of adolescent patients diagnosed with cHL and tested by immunohistochemistry the immune checkpoint molecules CTLA-4, LAG-3, PD-1, and PDL1 as well as the biological markers FOXP3 and CD8.
Plant Cell Rep
December 2024
Floriculture Lab, Agrotechnology Division, CSIR-Institute of Himalayan Bioresource Technology, (CSIR-IHBT), Palampur, H.P., 176061, India.
Everlastin1 and Everlastin2, potent inhibitors of EPH1, were identified through a wheat cell-free chemical-screening system. This innovative platform enables the development of small molecules that target 'undruggable' transcription factors. By specifically targeting the EPH1 pathway, these inhibitors delay petal senescence, extending the longevity and quality of ornamental flowers.
View Article and Find Full Text PDFTransl Psychiatry
December 2024
Departments of Psychiatry and Human Genetics, The University of Chicago, Chicago, IL, USA.
Recent genetic studies have linked numerous loci to psychiatric disorders. However, the biological pathways that connect these genetic associations to psychiatric disorders' specific pathophysiological processes are largely unclear. Endophenotypes, first defined over five decades ago, are heritable traits, independent of disease state that are associated with a disease, encompassing a broad range of neurophysiological, biochemical, endocrinological, neuroanatomical, cognitive, and neuropsychological characteristics.
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