ArticleAmerican journal of human genetics1995
Mapping disease genes: family-based association studies.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers, 1 of them a synthesis that pooled it.
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Who cites it
90 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Conditional meta-analysis stratifying on detailed HLA genotypes identifies a novel type 1 diabetes locus around TCF19 in the MHC.Human genetics · 2011Pooled it
- Linkage disequilibrium with predisposing DR3 haplotypes accounts for apparent effects of tumor necrosis factor and lymphotoxin-alpha polymorphisms on type 1 diabetes susceptibility.Human immunology · 2006Trial
- A generalized test of genotype-phenotype causality in population-sampled nuclear families.PLoS genetics · 2026Article
- Early Recognition and Intervention in SIBlingS at High Risk for Neurodevelopment Disorders (ERI-SIBS): a controlled trial of an innovative and ecological intervention for siblings of children with autism spectrum disorder.Frontiers in pediatrics · 2024Article
- Leveraging family data to design Mendelian randomization that is provably robust to population stratification.Genome research · 2023Article
- Leveraging family data to design Mendelian Randomization that is provably robust to population stratification.bioRxiv : the preprint server for biology · 2023Article
- Causal inference in genetic trio studies.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Relatedness disequilibrium regression estimates heritability without environmental bias.Nature genetics · 2018Article
- Where is the causal variant? On the advantage of the family design over the case-control design in genetic association studies.European journal of human genetics : EJHG · 2015Article
- Small duct primary sclerosing cholangitis without inflammatory bowel disease is genetically different from large duct disease.Liver international : official journal of the International Association for the Study of the Liver · 2014Article
- Utilising family-based designs for detecting rare variant disease associations.Annals of human genetics · 2014Article
- Next generation sequencing reveals the association of DRB3*02:02 with type 1 diabetes.Diabetes · 2013Article
- Dosage transmission disequilibrium test (dTDT) for linkage and association detection.PloS one · 2013Article
- A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis.Molecular biology and evolution · 2012Article
- Determination of the real effect of genes identified in GWAS: the example of IL2RA in multiple sclerosis.European journal of human genetics : EJHG · 2012Article
- Congruence as a measurement of extended haplotype structure across the genome.Journal of translational medicine · 2012Article
- Analytical methods for disease association studies with immunogenetic data.Methods in molecular biology (Clifton, N.J.) · 2012Article
- Replication and further characterization of a Type 1 diabetes-associated locus at the telomeric end of the major histocompatibility complex.Journal of diabetes · 2011Article
- The HLA-B 3906 allele imparts a high risk of diabetes only on specific HLA-DR/DQ haplotypes.Diabetologia · 2011Article
- Family-based designs for genome-wide association studies.Nature reviews. Genetics · 2011Review
30 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
With recent rapid advances in mapping of the human genome, including highly polymorphic and closely linked markers, studies of marker associations with disease are increasingly relevant for mapping disease genes. The use of nuclear-family data in association studies was initially developed to avoid possible ethnic mismatching between patients and randomly ascertained controls. The parental marker alleles not transmitted to an affected child or never transmitted to an affected sib pair form the so-called AFBAC (affected family-based controls) population. In this paper, the theoretical foundation of the AFBAC method is proved for any single-locus model of disease and for any nuclear family-based ascertainment scheme. In a random-mating population, when there is a marker association with disease, the AFBAC population provides an unbiased estimate of the overall population (control) marker alleles when the recombination fraction (theta) between the marker and disease genes is sufficiently small that it can be taken as zero (theta = 0). With population stratification, only marker associations present in the subpopulations will be detected with family-based analyses. Of more importance, however, is the fact that, when theta not equal to 0, differences between transmitted parental (patient) marker allele frequencies and non- or never-transmitted parental marker allele frequencies (implying a marker association with disease) can only be observed for marker genes linked to a disease gene (theta < 1/2). Thus, associations of unlinked marker loci with disease at the population level, caused by population stratification, migration, or admixture, are eliminated. This validates the use of family-based association tests as an appropriate strategy for mapping disease genes.
Indexed as
Identifiers
7668275PMC1801554What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.