20 Result(s)

Article

Genome-wide study of longitudinal brain imaging measures of multiple sclerosis progression across six clinical trials

While the genetics of MS risk susceptibility are well-described, and recent progress has been made on the genetics of disease severity, the genetics of disease progression remain elusive. We therefore investig...

Stephanie J. Loomis, Nilanjana Sadhu, Elizabeth Fisher… in Scientific Reports (2023)

Article

Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population

Mitja I. Kurki, Juha Karjalainen, Priit Palta, Timo P. Sipilä, Kati Kristiansson… in Nature (2023)

Article

FinnGen provides genetic insights from a well-phenotyped isolated population

Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These ...

Mitja I. Kurki, Juha Karjalainen, Priit Palta, Timo P. Sipilä, Kati Kristiansson… in Nature (2023)

Article

The burden of rare protein-truncating genetic variants on human lifespan

Genetic predisposition has been shown to contribute substantially to the age at which we die. Genome-wide association studies (GWASs) have linked more than 20 loci to phenotypes related to human lifespan¹. Howeve...

Jimmy Z. Liu, Chia-Yen Chen, Ellen A. Tsai, Christopher D. Whelan… in Nature Aging (2022)

Article

Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake

Complex traits are characterized by multiple genes and variants acting simultaneously on a phenotype. However, studying the contribution of individual pairs of genes to complex traits has been challenging sinc...

Magdalena Zimoń, Yunfeng Huang, Anthi Trasta, Aliaksandr Halavatyi… in Nature Communications (2021)

Article

Neurology-related protein biomarkers are associated with cognitive ability and brain volume in older age

Identifying biological correlates of late life cognitive function is important if we are to ascertain biomarkers for, and develop treatments to help reduce, age-related cognitive decline. Here, we investigated...

Sarah E. Harris, Simon R. Cox, Steven Bell, Riccardo E. Marioni… in Nature Communications (2020)

Article

Discovering in vivo cytokine-eQTL interactions from a lupus clinical trial

Cytokines are critical to human disease and are attractive therapeutic targets given their widespread influence on gene regulation and transcription. Defining the downstream regulatory mechanisms influenced by...

Emma E. Davenport, Tiffany Amariuta, Maria Gutierrez-Arcelus… in Genome Biology (2018)

Article

Phenome-wide association studies across large population cohorts support drug target validation

Phenome-wide association studies (PheWAS) have been proposed as a possible aid in drug development through elucidating mechanisms of action, identifying alternative indications, or predicting adverse drug even...

Dorothée Diogo, Chao Tian, Christopher S. Franklin… in Nature Communications (2018)

Article

Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Na_v1.7

Individuals with an extremely rare inherited condition, termed Congenital Insensitivity to Pain (CIP), do not feel pain in response to noxious stimuli. Variants in SCN9A, encoding the transmembrane voltage-gated ...

Wen He, Gareth T. Young, Baohong Zhang, Peter J. Cox… in BMC Medical Genetics (2018)

Article

Adapting Evidence-Based Interventions to Meet the Needs of Adolescents Growing Up with HIV in South Africa: The VUKA Case Example

The VUKA family program is one of the only evidence-based interventions to promote positive psychosocial outcomes in South African HIV-infected pre- and early adolescents and their families. In this paper, we ...

Claude Ann Mellins, Danielle Nestadt, Arvin Bhana, Inge Petersen… in Global Social Welfare (2014)

Article

Normative scores for a brief neuropsychological battery for the detection of HIV-associated neurocognitive disorder (HAND) among South Africans

There is an urgent need to more accurately diagnose HIV-associated neurocognitive disorder (HAND) in Africa. Rapid screening tests for HIV-associated dementia are of limited utility due to variable sensitivity...

Dinesh Singh, John A Joska, Karl Goodkin, Enrique Lopez, Landon Myer… in BMC Research Notes (2010)

Article

Data for Genetic Analysis Workshop (GAW) 15 Problem 2, genetic causes of rheumatoid arthritis and associated traits

For Genetic Analysis Workshop 15 Problem 2, we organized data from several ongoing studies designed to identify genetic and environmental risk factors for rheumatoid arthritis. Data were derived from the North...

Christopher I Amos, Wei Vivien Chen, Elaine Remmers… in BMC Proceedings (2007)

Article

Fine map** of genes within the IDDM8region in rheumatoid arthritis

The IDDM8 region on chromosome 6q27, first identified as a susceptibility locus for type 1 diabetes, has previously been linked and associated with rheumatoid arthritis (RA). The region contains a number of poten...

Anne Hinks, Anne Barton, Sally John, Neil Shephard… in Arthritis Research & Therapy (2006)

Article

Will the real disease gene please stand up?

A common dilemma arising in linkage studies of complex genetic diseases is the selection of positive signals, their follow-up with association studies and discrimination between true and false positive results...

Neil Shephard, Sally John, Lon Cardon, Mark I McCarthy, Eleftheria Zeggini in BMC Genetics (2005)

Article

Characterisation of the genomic architecture of human chromosome 17q and evaluation of different methods for haplotype block definition

The selection of markers in association studies can be informed through the use of haplotype blocks. Recent reports have determined the genomic architecture of chromosomal segments through different haplotype ...

Eleftheria Zeggini, Anne Barton, Stephen Eyre, Daniel Ward, William Ollier… in BMC Genetics (2005)

Article

Linkage analysis of cross-sectional and longitudinally derived phenotypic measures to identify loci influencing blood pressure

The design of appropriate strategies to analyze and interpret linkage results for complex human diseases constitutes a challenge. Parameters such as power, definition of phenotype, and replicability have to be...

Neil Shephard, Milena Falcaro, Eleftheria Zeggini, Philip Chapman… in BMC Genetics (2003)

Article

Genetic epidemiology: Approaches to the genetic analysis of rheumatoid arthritis

The basis of susceptibility to rheumatoid arthritis (RA) is complex, comprising genetic and environmental susceptibility factors. We have reviewed the available approaches to the investigation of the genetic b...

Sally John, Jane Worthington in Arthritis Research & Therapy (2001)