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Cortes, A. et al. Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
The study demonstrates the diagnostic utility of GS, especially for multiple risk variants that contribute to the phenotypic severity, shows the genetic heterogeneity in multiplex families, and provides evidence for new genes for follow up.
Recently, a study have shown the association of polymorphism rs7903146 of TCF7L2 gene and cardiovascular events incidence [16], but it did not assess whether the combination of multiple risk variants beyond TCF7L2 is useful in predicting cardiovascular events.
Multiple risk variants for common human diseases have recently been identified by genome-wide association studies.
We observed several such loci with multiple risk variants, including the T2D risk locus KCNQ1.
Algorithms that incorporate multiple risk variants and their interactions also may yield stronger associations for different smoking behaviors.
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We observed sporadic cases with multiple genetic risk variants in 4.1% compared with 1.3% in controls.
Stepwise analysis revealed multiple HLA-C∗06HLA-C∗0602-independent02-independenth class I and class II HLA genes for PsV susceptibility HLA-C∗12 03 HLA-C∗12 03no acid positions 67 and 9, HLA-B amino acid positions95, and HLA-DQα1 amino acid position 53; p < 5.0 × 10−8), but no apparent risk conferred by MICA.
In this study, we tested whether the combination of multiple genetic risk variants known to predict T2DM can be used to predict cardiovascular events in individuals with chronic coronary artery disease.
To make the situation more complicated, sometimes, a single locus can contain multiple independent risk variants (common or rare).
These recurrence risks are compatible with the presence of multiple genetic risk variants of incomplete penetrance, likely interacting with environmental factors.
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