present an analytical framework to evaluate rare and de novo noncoding mutations from the whole genome sequencing of 519 ASD families, unable to demonstrate a rare noncoding variant contribution to ASD risk, but found that the noncoding de novo indels category showed a greater number of nominally significant results than expected. 29 The authors 29 demonstrated that the contribution of de novo noncoding variation is probably modest compared to de novo coding variants.
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In unadjusted comparisons, FSH, T , and FT3 showed nominally significant differences across profiles, and E2 showed a marginal difference.
For genotype–phenotype association analyses, although no SNPs passed Bonferroni threshold, there were some SNPs that were suggestively significant that were eQTLs for RNF24 (neuropathy) and MFSD4B/REV3L (vertigo), with other eQTLs for these genes having a nominally significant association with toxicities.
Exploratory cross‐sectional correlations between ROI reactivity and clinical measures revealed several nominally significant associations (supplementary results and Figure S1 ), including relationships between amygdala–hippocampal reactivity and anhedonia in the P > C profile.
Results Maternal double dose of the A allele (rs7993594) exhibited a nominally significant increased risk of HDP (RR = 3.52, 95% CI 1.08, 11.20).
In addition, we detected a nominally significant positive correlation between cg05649751 methylation and the expression of one of its cis -genes, SH2B3 , which encodes a critical negative regulatory protein in cytokine signaling and was reported to be associated with the risk of lung, colorectal, and breast cancer 32 .
However, while multiple nominally significant cis -eQTLs were present, nearly half of all loci had no evidence of cis -eQTLs in the sample sets used.
None of the P -value for the univariate test was nominally significant for that variant ( P -values are 0.44, 0.10, 0.11 and 0.52 for insulin resistance, fasting insulin, insulin secretion and fasting proinsulin, respectively).
Given the large number of stratified analyses performed across multiple demographic and geographic strata, the familywise error rate is inflated and some nominally significant subgroup results may represent Type I error; accordingly, effect sizes and 95% confidence intervals are emphasized alongside p -values for subgroup comparisons, and borderline findings are interpreted with appropriate caution. 2.5.3.
SNP and Gene-Based Functional Analysis of Most Significant GWAS Hits and Their Link to Neurological Traits and Pathologies The analysis with the most nominally significant SNPs from all five linear regressions retrieved a total of 30 candidates, all with functional relevance in brain tissues, as suggested by expression and epigenetic data.
R s12126142 in RA and rs6679677 in SLE were the only SNPs with nominally significant associations with ASD ( Supplementary Tables 1 and 2 ). 2) MR results There was no support for an association between RA and SLE using the IVW technique, which showed no relationship (beta=−0.077, SE=0.041, p=0.062; beta=0.014, SE=0.021, p=0.493) ( Table 1 , Figures 1 and 2 ).
These PLCG2 expression differences were largely driven by the significant overexpression detected in ADAD brains across all cell types except microglia, which was nominally significant (Supplementary Dataset 10 ).
A raw p value <0.05 was considered nominally significant, which was further subjected to a Bonferroni correction to account for multiple testing in this study, where a significance level of 0.05/N (N = 198, i.e., the total number of the tested CNPs) was used as a significance threshold for a test ( p = 2.53×10 −4 ).
( 2009 ) noted a nominally significant association between AVPR1B and the empathy quotient (EQ) also in a non-clinical sample.
Nominally significant mean improvements were seen in both patient subgroups for other key secondary endpoints, including reductions in total cholesterol, LDL-cholesterol, body weight, and BMI ( Table 3 ).
This association of the SNP × CP interaction with MetS remained nominally significant in multiple logistic regression analysis after adjustment for either the number of MetS components or MetS components excluding obesity.
Meta-analysis provided robust evidence for IL27RA (OR = 0.97, 95% CI: 0.95–0.98, P = 1.0×10-6) and TIE1 (OR = 1.14, 95% CI: 1.07–1.21, P = 4.8×10−5), while IL17RD was nominally significant.
All the remaining loci with the exception of the FAM30A locus showed at least a nominally significant parent of origin P -value (<0.05) between the SNP and methylation at the relevant CpG site at all three time points ( Tables 1 and 2 ).
We arbitrarily selected p<5.0×10 −4 as nominally significant since it corresponds to a corrected p-value of 0.05 after correction for 100 independent gene regions and the 508 SNPs analyzed in the study fell into ∼100 independent linkage disequilibrium blocks.
All results were considered nominally significant after correction for multiple testing.
rs11158547 ( PPP1R36-PLEKHG3 ) and rs1028727 ( SERPINE3 ) displayed nominally significant association in the multi-trait analysis (CPASSOC and MTAG) in individuals of Asian ancestry (Supplementary Datas 6 and 7 ).
In terms of survival analysis, the highest number of nominally significant associations was obtained using tumor data (rather than healthy colon data) and OS as the end point (Extended Data Fig. 7d and Supplementary Table 7 ).
We observed a total of 131 nominally significant associations for 67 ageing-related proteins, with more than ten proteins being associated with the incidence of dyslipidemia, hypertension, type 2 diabetes (T2D), fatty liver and hepatitis (Supplementary Table 10 ).
This study found that the correlation between saliva and brain epigenome-wide profiles is as high as r = 0.90 and 15.1% of individual CpGs in saliva correlated to brain at a nominally significant level ( Braun et al., 2019 ).
This comparison for all seven available factors revealed a nominally significant differences in the chromosome 19 optimal subsets identified from OSA analysis of chromosomes 17 (52 families) and 6 (30 families) for the "developmental milestones" cluster.