Dataset Information

Genome-wide pQTL analysis of protein expression regulatory networks in the human liver

ABSTRACT: Background: Previous expression quantitative trait loci (eQTL) studies have identified thousands of genetic variants to be associated with gene expression at the mRNA level in the human liver. However, protein expression often correlates poorly with mRNA levels. Thus, protein quantitative trait loci (pQTL) study is required to identify genetics variants that regulate protein expression in human livers. Results: We conducted a genome-wide pQTL study in 287 normal human liver samples and identified 900 local-pQTL variants and 4,026 distant-pQTL variants. We further discovered 53 genome hotspots of pQTL variants. Transcriptional region mapping analysis showed that 1,133 pQTL variants are in transcriptional regulatory regions. Genomic region enrichment analysis of the identified pQTL variants revealed 804 potential regulatory interactions among 595 regulators (e.g. non-coding RNAs) and 394 proteins. Moreover, pQTL variants and trait-variant integration analysis uncovered several novel mechanisms underlying the relationships between protein expression and liver diseases, such as alcohol dependence. Notably, over 2,000 of the identified pQTL variants have not been reported in previous eQTL studies, suggesting extensive involvement of genetic polymorphisms in post-transcriptional regulation of protein expression in human livers. Conclusions: We have partially established protein expression regulation networks in human livers and generated a wealth of pQTL data that could serve as a valuable resource for the scientific community.

INSTRUMENT(S): TripleTOF 5600

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Liver

SUBMITTER: Bing He

LAB HEAD: Hao-Jie Zhu

PROVIDER: PXD019169 | Pride | 2020-07-21

REPOSITORIES: Pride

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			Action	DRS
	SWATH_L100_CES1AS_HLS9.wiff	Wiff
	SWATH_L100_CES1AS_HLS9.wiff.scan	Wiff
	SWATH_L101_CES1AS_HLS9.wiff	Wiff
	SWATH_L101_CES1AS_HLS9.wiff.scan	Wiff
	SWATH_L102_CES1AS_HLS9.wiff	Wiff

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Genome-wide pQTL analysis of protein expression regulatory networks in the human liver.

He Bing B Shi Jian J Wang Xinwen X Jiang Hui H Zhu Hao-Jie HJ

BMC biology 20200810 1

<h4>Background</h4>Previous expression quantitative trait loci (eQTL) studies have identified thousands of genetic variants to be associated with gene expression at the mRNA level in the human liver. However, protein expression often correlates poorly with mRNA levels. Thus, protein quantitative trait loci (pQTL) study is required to identify genetic variants that regulate protein expression in human livers.<h4>Results</h4>We conducted a genome-wide pQTL study in 287 normal human liver samples a ...[more]

PMID: 32778093

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