ArticleAmerican journal of human genetics2002
Multiplex relative risk and estimation of the number of loci underlying an inherited disease.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.American journal of human genetics · 2004Pooled it
- Genetic and modifiable risk factors combine multiplicatively in common disease.Clinical research in cardiology : official journal of the German Cardiac Society · 2023Article
- [Analysis of single-nucleotide polymorphism of Sonic hedgehog signaling pathway in non-syndromic cleft lip and/or palate in the Chinese population].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2019Article
- Pathway-induced allelic spectra of diseases in the presence of strong genetic effects.Human genetics · 2018Article
- A pilot study: Screening target miRNAs in tissue of nonsyndromic cleft lip with or without cleft palate.Experimental and therapeutic medicine · 2017Article
- Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities.F1000Research · 2016Review
- Snippets From the Past: Imaginative Designs--Separating Hereditary From Environmental Effects in pre-DNA Times.American journal of epidemiology · 2015Article
- Functional Significance of MMP3 and TIMP2 Polymorphisms in Cleft Lip/Palate.Journal of dental research · 2014Article
- A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk.BMC genetics · 2014Article
- Fetal health shocks and early inequalities in health capital accumulation.Health economics · 2014Article
- TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China.PloS one · 2013Article
- GWAS reveals new recessive loci associated with non-syndromic facial clefting.European journal of medical genetics · 2012Article
- Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts.Birth defects research. Part A, Clinical and molecular teratology · 2012Article
- Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans.Genetic epidemiology · 2012Article
- Candidate pathway based analysis for cleft lip with or without cleft palate.Statistical applications in genetics and molecular biology · 2012Article
- The evolution of human genetic studies of cleft lip and cleft palate.Annual review of genomics and human genetics · 2012Review
- Interaction between IRF6 and TGFA genes contribute to the risk of nonsyndromic cleft lip/palate.PloS one · 2012Article
- Risk of breast cancer in families with cleft lip and palate.Annals of epidemiology · 2012Article
- CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2011Article
- Risk of oral clefts in twins.Epidemiology (Cambridge, Mass.) · 2011Article
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2 authors.
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Abstract
Knowledge of the number of causative loci is necessary to estimate the power of mapping studies of complex diseases. In the present article, we reexamine a theory developed by Risch and its implications for estimating the number L of causative loci affecting a complex inherited disease. We first show that methods based on Risch's analysis can produce estimates of L that are inconsistent with the observed population prevalence of the disease. We demonstrate this point by showing that the maximum-likelihood estimate for L produced by the method of Farrall and Holder for cleft lip/cleft palate data is not consistent with the prevalence under the multiplicative model. We show how to incorporate disease prevalence and develop a maximum-likelihood method for estimating L that uses the entire distribution of numbers of affected individuals in families containing an affected individual. This method avoids the potential inconsistencies of the Risch method and has greater precision. We apply our method to data on cleft lip/cleft palate and schizophrenia.
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