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Recent genome-wide association studies have identified a major risk locus for atherosclerosis on chromosome 9p21.3.
The 9p21.3 risk locus is the first locus to be associated with an increased risk of coronary artery disease (CAD -related events and many other phenotypes.
This was verified in prefrontal cortex and -induced pluripotent stem cell derived neurons for the L-type calcium channel (CACNA1C) risk locus.
We also identified a rare risk locus for ASD and language delay at chromosomal region 2q24 (implicating NR4A2) and another lower-penetrance locus involving inherited deletions and duplications of WWOX.
The high population attributable risk of the 9p21.3 risk locus, mechanistic knowledge acquired thus far, and ongoing research efforts could facilitate the design of novel therapeutic molecules to reduce the risk of CAD and its related events.
This inverse association could also indicate the presence of interactions with another risk locus [33].
Thus, this region represents a novel risk locus for the disease.
Thus, modest GWAS evidence could implicate moderately-common loci and/or moderately-large effect sizes at the actual risk locus.
This region of chromosome 13 has not been previously identified in MS linkage genome screens and represents a novel risk locus for the disease.
Therefore, loss of the risk alleles due to the decreased reproductive fitness of the patients should be balanced by de novo mutation in each risk locus.
Therefore, we assume here that the total of the population frequencies of the pathogenic alleles at each risk locus is preserved by mutation-selection balance.
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