Cryptic relatedness

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. Voight BF, Pritchard JK (September 2005). "Confounding from cryptic relatedness in case-control association studies". PLOS Genetics. 1 (3): e32. doi:10.1371/journal.pgen.0010032. PMC 1200427. PMID 16151517.
  2. Bulik-Sullivan BK, Loh PR, Finucane HK, Ripke S, Yang J, Patterson N, Daly MJ, Price AL, Neale BM (March 2015). "LD Score regression distinguishes confounding from polygenicity in genome-wide association studies". Nature Genetics. 47 (3): 291–5. doi:10.1038/ng.3211. PMC 4495769. PMID 25642630.
  3. Astle W, Balding DJ (November 2009). "Population Structure and Cryptic Relatedness in Genetic Association Studies". Statistical Science. 24 (4): 451–471. arXiv:1010.4681. doi:10.1214/09-STS307. ISSN 2168-8745. S2CID 2553594.
  4. Zhang F, Deng HW (October 2010). "Confounding from cryptic relatedness in haplotype-based association studies". Genetica. 138 (9–10): 945–50. doi:10.1007/s10709-010-9476-6. PMID 20680405. S2CID 24583500.
  5. Sillanpää MJ (April 2011). "Overview of techniques to account for confounding due to population stratification and cryptic relatedness in genomic data association analyses". Heredity. 106 (4): 511–9. doi:10.1038/hdy.2010.91. PMC 3183892. PMID 20628415.
  6. Zhang F, Deng HW (2010). "Correcting for cryptic relatedness in population-based association studies of continuous traits". Human Heredity. 69 (1): 28–33. doi:10.1159/000243151. PMC 2880733. PMID 19797906.
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