Matches in SemOpenAlex for { <https://semopenalex.org/work/W4379385862> ?p ?o ?g. }
- W4379385862 abstract "Background The impact of genetic variants on gene expression has been intensely studied at the transcription level, yielding in valuable insights into the association between genes and the risk of complex disorders, such as schizophrenia (SCZ). However, the downstream impact of these variants and the molecular mechanisms connecting transcription variation to disease risk are not well understood. Results We quantitated ribosome occupancy in prefrontal cortex samples of the BrainGVEX cohort. Together with transcriptomics and proteomics data from the same cohort, we performed cis-Quantitative Trait Locus (QTL) mapping and identified 3,253 expression QTLs (eQTLs), 1,344 ribosome occupancy QTLs (rQTLs), and 657 protein QTLs (pQTLs) out of 7,458 genes quantitated in all three omics types from 185 samples. Of the eQTLs identified, only 34% have their effects propagated to the protein level. Further analysis on the effect size of eQTLs showed clear post-transcriptional attenuation of eQTL effects. We then investigated the biological relevance of the attenuated eQTLs by identifying omics-specific QTLs, and identified 228 omics-specific QTLs (70 esQTL, 51 rsQTL, and 107 psQTL), with five showing strong colocalization with SCZ GWAS signals and three of which were esQTL. Using both S-PrediXcan and two-sample Mendelian Randomization (MR), we identified a total 52 SCZ risk genes, 34% of which are novel. We found 67.3% of these SCZ-risk-driving eQTLs show little to no evidence of driving corresponding variations at the protein level. Conclusion The effect of eQTLs on gene expression in the prefrontal cortex is commonly attenuated post-transcriptionally. Many of the attenuated eQTLs still correlate with SCZ GWAS signal. Further investigation is needed to elucidate a mechanistic link between attenuated eQTLs and SCZ disease risk." @default.
- W4379385862 created "2023-06-06" @default.
- W4379385862 creator A5006842195 @default.
- W4379385862 creator A5009475130 @default.
- W4379385862 creator A5012741247 @default.
- W4379385862 creator A5015382049 @default.
- W4379385862 creator A5028708641 @default.
- W4379385862 creator A5033632697 @default.
- W4379385862 creator A5036796031 @default.
- W4379385862 creator A5047098889 @default.
- W4379385862 creator A5049316851 @default.
- W4379385862 creator A5052344288 @default.
- W4379385862 creator A5053453125 @default.
- W4379385862 creator A5059782921 @default.
- W4379385862 creator A5060412535 @default.
- W4379385862 creator A5064994448 @default.
- W4379385862 creator A5075653086 @default.
- W4379385862 creator A5076498573 @default.
- W4379385862 creator A5081126034 @default.
- W4379385862 creator A5088087329 @default.
- W4379385862 creator A5088479227 @default.
- W4379385862 creator A5089487122 @default.
- W4379385862 creator A5090292384 @default.
- W4379385862 date "2023-06-05" @default.
- W4379385862 modified "2023-10-06" @default.
- W4379385862 title "The impact of common variants on gene expression in the human brain: from RNA to protein to schizophrenia risk" @default.
- W4379385862 cites W1963673462 @default.
- W4379385862 cites W1964895626 @default.
- W4379385862 cites W1977994342 @default.
- W4379385862 cites W1986911601 @default.
- W4379385862 cites W1996299724 @default.
- W4379385862 cites W1999574084 @default.
- W4379385862 cites W2019465651 @default.
- W4379385862 cites W2042914870 @default.
- W4379385862 cites W2044286001 @default.
- W4379385862 cites W2073836327 @default.
- W4379385862 cites W2079517684 @default.
- W4379385862 cites W2086157203 @default.
- W4379385862 cites W2101357408 @default.
- W4379385862 cites W2108345226 @default.
- W4379385862 cites W2113506612 @default.
- W4379385862 cites W2120865735 @default.
- W4379385862 cites W2138207763 @default.
- W4379385862 cites W2151872224 @default.
- W4379385862 cites W2161633633 @default.
- W4379385862 cites W2167725902 @default.
- W4379385862 cites W2170551349 @default.
- W4379385862 cites W2173304983 @default.
- W4379385862 cites W2175136759 @default.
- W4379385862 cites W2209106767 @default.
- W4379385862 cites W2264585211 @default.
- W4379385862 cites W2328393125 @default.
- W4379385862 cites W2526546796 @default.
- W4379385862 cites W2759086237 @default.
- W4379385862 cites W2770092353 @default.
- W4379385862 cites W2777388159 @default.
- W4379385862 cites W2806225217 @default.
- W4379385862 cites W2904884010 @default.
- W4379385862 cites W2950044823 @default.
- W4379385862 cites W2950757888 @default.
- W4379385862 cites W2952159244 @default.
- W4379385862 cites W2977195112 @default.
- W4379385862 cites W2983765585 @default.
- W4379385862 cites W3013177663 @default.
- W4379385862 cites W3016114513 @default.
- W4379385862 cites W3021882513 @default.
- W4379385862 cites W3025047014 @default.
- W4379385862 cites W3042068575 @default.
- W4379385862 cites W3045910546 @default.
- W4379385862 cites W3089716446 @default.
- W4379385862 cites W3120082140 @default.
- W4379385862 cites W3126704164 @default.
- W4379385862 cites W3133859624 @default.
- W4379385862 cites W3197364483 @default.
- W4379385862 cites W3215894083 @default.
- W4379385862 cites W4211025465 @default.
- W4379385862 cites W4223520055 @default.
- W4379385862 cites W4231262454 @default.
- W4379385862 cites W4281382741 @default.
- W4379385862 cites W4307106797 @default.
- W4379385862 doi "https://doi.org/10.1101/2023.06.04.543603" @default.
- W4379385862 hasPublicationYear "2023" @default.
- W4379385862 type Work @default.
- W4379385862 citedByCount "0" @default.
- W4379385862 crossrefType "posted-content" @default.
- W4379385862 hasAuthorship W4379385862A5006842195 @default.
- W4379385862 hasAuthorship W4379385862A5009475130 @default.
- W4379385862 hasAuthorship W4379385862A5012741247 @default.
- W4379385862 hasAuthorship W4379385862A5015382049 @default.
- W4379385862 hasAuthorship W4379385862A5028708641 @default.
- W4379385862 hasAuthorship W4379385862A5033632697 @default.
- W4379385862 hasAuthorship W4379385862A5036796031 @default.
- W4379385862 hasAuthorship W4379385862A5047098889 @default.
- W4379385862 hasAuthorship W4379385862A5049316851 @default.
- W4379385862 hasAuthorship W4379385862A5052344288 @default.
- W4379385862 hasAuthorship W4379385862A5053453125 @default.
- W4379385862 hasAuthorship W4379385862A5059782921 @default.
- W4379385862 hasAuthorship W4379385862A5060412535 @default.
- W4379385862 hasAuthorship W4379385862A5064994448 @default.
- W4379385862 hasAuthorship W4379385862A5075653086 @default.