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A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis
TLDR
Using linkage–disequilibrium and full haplotype analysis, a region more than 3 megabases telomeric of the major histocompatibility complex (MHC) that is identical–by–descent in 85% of patient chromosomes is identified, containing a gene related to the MHC class I family, termed HLA–H, containing two missense alterations.
The Future of Genetic Studies of Complex Human Diseases
TLDR
In their Perspective, Risch and Merikangas propose that the power of the human genome project with association studies, a method for determining the basis of a genetic disease, can best accomplish the identification of the genetic basis of complex human diseases such as schizophrenia and diabetes.
Effects of Age, Sex, and Ethnicity on the Association Between Apolipoprotein E Genotype and Alzheimer Disease: A Meta-analysis
TLDR
The APOE∈4 allele represents a major risk factor for AD in all ethnic groups studied, across all ages between 40 and 90 years, and in both men and women.
Linkage strategies for genetically complex traits. I. Multilocus models.
  • N. Risch
  • Biology
    American journal of human genetics
  • 1 February 1990
TLDR
It is shown in the second paper of this series that lambda R is the critical parameter in determining power to detect linkage by using affected relative pairs in multilocus models of inheritance.
Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium.
TLDR
It is found that the APOE epsilon4 effect is evident at all ages between 40 and 90 years but diminishes after age 70 years and that the risk of AD associated with a given genotype varies with sex.
Positional Cloning of the Human Quantitative Trait Locus Underlying Taste Sensitivity to Phenylthiocarbamide
TLDR
A small region on chromosome 7q that shows strong linkage disequilibrium between single-nucleotide polymorphism (SNP) markers and PTC taste sensitivity in unrelated subjects and a single gene that encodes a member of the TAS2R bitter taste receptor family is identified.
Interaction between the serotonin transporter gene (5-HTTLPR), stressful life events, and risk of depression: a meta-analysis.
TLDR
This meta-analysis yielded no evidence that the serotonin transporter genotype alone or in interaction with stressful life events is associated with an elevated risk of depression in men alone, women alone, or in both sexes combined.
Searching for genetic determinants in the new millennium
TLDR
These issues are discussed, together with suggestions for optimal post-genome strategies, which are being presented for unravelling the complex genetic basis of non-mendelian disorders based on large-scale genome-wide studies.
Genetic heritability and shared environmental factors among twin pairs with autism.
TLDR
Susceptibility to ASD has moderate genetic heritability and a substantial shared twin environmental component.
Linkage strategies for genetically complex traits. II. The power of affected relative pairs.
  • N. Risch
  • Biology
    American journal of human genetics
  • 1 February 1990
TLDR
The power to detect disease-susceptibility loci through linkage analysis using pairs of affected relatives and affected-unaffected pairs is examined and simultaneous use of multiple markers diminishes the effect of recombination and allows for localization of the disease-magnifying locus.
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