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• W1978257438 abstract "Linkage disequilibrium (LD) and confounding are two widely discussed concepts in Genetics and in Epidemiology, yet their relationship has received only intuitive or no considerations. Taken in the narrow sense, LD refers to the nonrandom association of alleles at two or more linked genetic loci. The degree to which these alleles are associated is the basis behind genetic association studies whereby the genetic variation across target chromosomal intervals or over the entire genome is captured by a set of representative genetic markers (tagging markers). The denomination of ‘linkage' is somehow misleading because LD is a special case of the more general gametic phase disequilibrium (GPD),1 which also occurs between variants at the mitochondrial and nuclear loci in the form of cytonuclear disequilibrium.2Confounding occurs when an extraneous factor, or a set of factors, can at least partially explain an apparent association or a lack of an apparent association between a risk factor and the outcome. In the former case, the confounding variable, or confounder, causes the association to appear, whereas in the second case the confounder masks a real association.3 The classical example is the apparent increase of risk for heart disease with alcohol consumption, an association that might in fact be due to cigarette smoking, a covariate highly correlated with alcohol consumption.4With the flood of genetic association data published over the last few years, and the many others to come, it is the expectation that an increased number of the reported associations will be false findings or considered as such. As false finding is the common explanation for unexpected (irrelevant) but statistically significant associations, in most cases these findings are not followed-up. Nevertheless, associations appealing to common sense (association between marital status and cutaneous lymphoma) or as intriguing as they may appear (validated association between height and uterine fibroids) have been reported; these associations could be explained by mere LD, more precisely they might result from confounding by LD or GPD between loci influencing height and uterine fibroids." @default.
• W1978257438 created "2016-06-24" @default.
• W1978257438 creator A5071063677 @default.
• W1978257438 date "2013-12-19" @default.
• W1978257438 modified "2023-10-14" @default.
• W1978257438 title "Confounding by linkage disequilibrium" @default.
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• W1978257438 doi "https://doi.org/10.1038/jhg.2013.130" @default.
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