Biology:Cryptic relatedness

From HandWiki
Short description: Presence of undetected relatedness between subjects in genetic association studies

In population genetics, cryptic relatedness occurs when individuals in a genetic association study are more closely related to another population than assumed by the investigators. This can act as a confounding factor in both case-control and genome-wide association studies,[1][2] as well as in studies of genetic diversity. Along with population stratification, it is one of the most prominent confounding factors that can lead to inflated false positive rates in gene-association studies.[3][4] It is often corrected for by including a polygenic component in the statistical model being used to detect genetic associations.[5] Other approaches that have been developed to attempt to control for cryptic relatedness are the genomic control method and the use of extended likelihood ratio tests.[6]

References

  1. "Confounding from cryptic relatedness in case-control association studies". PLOS Genetics 1 (3): e32. September 2005. doi:10.1371/journal.pgen.0010032. PMID 16151517. 
  2. "LD Score regression distinguishes confounding from polygenicity in genome-wide association studies". Nature Genetics 47 (3): 291–5. March 2015. doi:10.1038/ng.3211. PMID 25642630. 
  3. "Population Structure and Cryptic Relatedness in Genetic Association Studies". Statistical Science 24 (4): 451–471. November 2009. doi:10.1214/09-STS307. ISSN 2168-8745. 
  4. "Confounding from cryptic relatedness in haplotype-based association studies". Genetica 138 (9–10): 945–50. October 2010. doi:10.1007/s10709-010-9476-6. PMID 20680405. 
  5. "Overview of techniques to account for confounding due to population stratification and cryptic relatedness in genomic data association analyses". Heredity 106 (4): 511–9. April 2011. doi:10.1038/hdy.2010.91. PMID 20628415. 
  6. "Correcting for cryptic relatedness in population-based association studies of continuous traits" (in english). Human Heredity 69 (1): 28–33. 2010. doi:10.1159/000243151. PMID 19797906.