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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
-
^ 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.
-
^ 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.
-
^ 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.
-
^ 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.
-
^ 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.
-
^ 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.