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Detection of chromosomal aberrations by a whole-genome microsatellite screen.

Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.

Familial syndromic esophageal atresia maps to 2p23-p24.

Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3.

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X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.

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Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy.

Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations.

Individual estimates of European genetic admixture associated with lower body-mass index, plasma glucose, and prevalence of type 2 diabetes in Pima Indians.

Linkage Analyses at the Chromosome 1 Loci 1q24-25 (HPC1), 1q42.2-43 (PCAP), and 1p36 (CAPB) in Families with Hereditary Prostate Cancer

Genome screening in human systemic lupus erythematosus: results from a second Minnesota cohort and combined analyses of 187 sib-pair families.

Evidence for heterogeneity in recombination in the human pseudoautosomal region: high resolution analysis by sperm typing and radiation-hybrid mapping.

Effects of stratification in the analysis of affected-sib-pair data: benefits and costs.

Removing the sampling restrictions from family-based tests of association for a quantitative-trait locus.

The relationship between the sibling recurrence-risk ratio and genotype relative risk.

Family-based tests of association and linkage that use unaffected sibs, covariates, and interactions.

A coalescent approach to study linkage disequilibrium between single-nucleotide polymorphisms.

Estimation of variance components of quantitative traits in inbred populations.

New estimates of intergenerational time intervals for the calculation of age and origins of mutations.

Haplotype fine mapping by evolutionary trees.

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Letter to human genetics journals.

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The relationship between the sibling recurrence-risk ratio and genotype relative risk.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Elston, R. C. Rybicki, B. A.
Description	Country affiliation: United States Author Affiliation: Rybicki BA ( Department of Biostatistics and Research Epidemiology, Henry Ford Health System, 1 Ford Place, 3E, Detroit, MI 48202, USA. brybick1@hfhs.org)
Abstract	The recurrence-risk ratio of disease in siblings, lambdaS, is a standard parameter used in genetic analysis to estimate the statistical power for detection of a disease locus. However, the relationship between the underlying risk conferred by a disease-susceptibility allele and lambdaS has not been well described. The former is generally quantified as a genotype relative risk, gamma, and measures the ratio of disease risks between those with and those without the susceptibility genotype(s). We demonstrate that lambdaS varies significantly more with respect to gamma and the disease-allele frequency for two-locus multiplicative models than for other two-locus and for single-locus models. For the single- and two-locus dominant-inheritance models that we studied, when a disease-susceptibility allele had a frequency >/=.2, lambdaS had an upper limit of <10. In general, lambdaS values >10 are possible only under recessive inheritance, dominant inheritance with relatively rare (<5%) disease-susceptibility alleles, or when two or more disease loci have alleles acting either epistatically or multiplicatively. We introduce the idea of a restricted sib recurrence-risk ratio (lambdaS) estimated by restriction of sibships to those ascertained through a proband who already has a putative high-risk allele. A lambdaS larger than the lambdaS value estimated from randomly selected probands can serve as an indirect way of testing whether the posited susceptibility allele increases disease risk. Our results demonstrate that a lambdaS of 2-3 may portend successful mapping for a variety of genetic models but that, for some two-locus models, a lambdaS as high as 10 does not guarantee underlying genes easily mapped by linkage.
ISSN	00029297
e-ISSN	15376605
Journal	The American Journal of Human Genetics
Issue Number	2
Volume Number	66
Language	English
Publisher	Cell Press (on behalf of American Society of Human Genetics)
Publisher Date	2000-02-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Chromosome Mapping Genetic Diseases, Inborn Genetics Genetic Linkage Genetic Predisposition To Disease Nuclear Family Alleles Gene Frequency Genes, Dominant Genes, Recessive Epidemiology Genotype Mathematics Models, Genetic Sarcoidosis Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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