Cryptic relatedness

In population genetics, cryptic relatedness occurs when individuals in a genetic association study are more closely related to another 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.
  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.
  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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