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A Variant of the HTRA1 Gene Increases Susceptibility to Age-Related Macular Degeneration
TLDR
A single-nucleotide polymorphism in the promoter region of HTRA1 is the most likely causal variant for AMD at 10q26 and is estimated to confer a population attributable risk of 49.3%.
A candidate prostate cancer susceptibility gene at chromosome 17p
TLDR
A genome-wide scan of large, high-risk pedigrees from Utah has provided evidence for linkage to a locus on chromosome 17p, identifying a gene, ELAC2, harboring mutations (including a frameshift and a nonconservative missense change) that segregate with prostate cancer in two pedigree.
Predisposition locus for major depression at chromosome 12q22-12q23.2.
TLDR
This study confirms the presence of one or more genes involved in psychiatric diseases on the q arm of chromosome 12 and provides strong evidence for the existence of a sex-specific predisposition gene to major depression at 12q22-q23.
Genome‐wide linkage analyses of extended Utah pedigrees identifies loci that influence recurrent, early‐onset major depression and anxiety disorders
TLDR
The hypothesis that MDD and anxiety disorders have over‐lapping genetic etiologies is supported and suggests that comorbid diagnoses may be useful in defining more genetically homogeneous forms of MDD for linkage mapping.
Classification tree analysis: a statistical tool to investigate risk factor interactions with an example for colon cancer (United States)
TLDR
The results suggest that risk factors work together to determine disease risk, and the most important factor is the utilization of aspirin and/or non-steroidal anti-inflammatory drugs (NSAID), with those taking this medication having lower risk.
Interleukin-1 receptor antagonist gene polymorphism and coronary artery disease.
TLDR
IL-1RN*2 was significantly associated with SVD, and a difference in genetic association between SVD and MVD was also apparent.
Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32
TLDR
Two variants associated with follicular lymphoma at 6p21.32 are identified, supporting the idea that major histocompatibility complex genetic variation influences follicle lymphoma susceptibility.
PedGenie: an analysis approach for genetic association testing in extended pedigrees and genealogies of arbitrary size
TLDR
PedGenie is a flexible and valid statistical tool that is intuitively simple to understand, makes efficient use of all the data available from pedigrees without requiring trimming, and is flexible to the types of tests to which it can be applied.
HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG)
TLDR
It is demonstrated that the HOXB13 G84E mutation is present in ~5 % of prostate cancer families, predominantly of European descent, and this allele and others like it could form the basis for early, targeted screening of men at elevated risk for this common, clinically heterogeneous cancer.
An interleukin-1 genotype is associated with fatal outcome of meningococcal disease.
TLDR
The data suggest that IL-1 genotype influences the severity of meningitis, and a significant association was found between fatal outcome and genotype at IL1B (nucleotide position -511).
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