Inflation of sibling recurrence-risk ratio, due to ascertainment bias and/or overreporting
Article Abstract:
A much-used measure of familial aggregation is the sibling recurrence-risk ratio or lambda sub S. It is defined as the ratio of risk of disease manifestation, given a sibling's being affected, vs prevalence of the disease in the overall population. The ratio lambda sub S can be greatly inflated because of misunderstanding of the original definition and of ascertainment bias and of overreporting. Like segregation analysis, the estimation of lambda sub S is likely to be affected by ascertainment bias. It should be estimated with great care. If it is used for discrimination between different genetic models, for exclusion mapping and for association studies even more care should be taken.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class II gene
Article Abstract:
An approach has been developed to get around the confounding effects of disequilibrium between class II alleles and alleles at other major histocompatibility complex (MHC) loci. The human leukocyte antigen (HLA) complex comprises 3.5 Mb of DNA from the centromeric HLA-DPB2 locus to the telomeric HLA-F locus on chromosome 6p21. It encodes a major part of the genetic predisposition to develop type 1 diabetes (IDDM1) Predisposition to type 1 diabetes has been linked to the human leukocyte antigen complex. It includes at least one non-class II gene.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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- Abstracts: Fine mapping of the diabetes-susceptibility locus, IDDM4 (ital), on chromosome 11q13. A novel Alu (ital)-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy
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