Roles of Phosphatidylinositol 4-Phosphorylation in Non-vesicular Cholesterol Trafficking

Balla, Tamás; Gulyas, Gergo; Mandal, Amrita; Álvarez-Prats, Alejandro; Niu, Yaran; Kim, Yeun Ju; Pemberton, Joshua

doi:10.1007/978-3-031-21547-6_12

Advances in Experimental Medicine and Biology

2023

DOI: 10.1007/978-3-031-21547-6_12

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Roles of Phosphatidylinositol 4-Phosphorylation in Non-vesicular Cholesterol Trafficking

Tamás Balla

Gergo Gulyas²,

Amrita Mandal

et al.

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2024

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Cited by 1 publication

References 131 publications

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An optimized instrument variable selection approach to improve causality estimation in association studies

Sharma,

Jangale,

Swain

et al. 2024

Sci Rep

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Mendelian randomization (MR) is an emerging tool for inferring causality in genetic epidemiology. MR studies suffer bias from weak genetic instrument variables (IVs) and horizontal pleiotropy. We introduce a robust integrative framework strictly adhering with STROBE-MR guidelines to improve causality inference through MR studies. We implemented novel t-statistics-based criteria to improve the reliability of selected IVs followed by various MR methods. Further, we include sensitivity analyses to remove horizontal-pleiotropy bias. For functional validation, we perform enrichment analysis of identified causal SNPs. We demonstrate effectiveness of our proposed approach on 5 different MR datasets selected from diverse populations. Our pipeline outperforms its counterpart MR analyses using default parameters on these datasets. Notably, we found a significant association between total cholesterol and coronary artery disease ( P = 1.16 × 10 −71 ) in a single-sample dataset using our pipeline. Contrarily, this same association was deemed ambiguous while using default parameters. Moreover, in a two-sample dataset, we uncover 13 new causal SNPs with enhanced statistical significance ( P = 1.06 × 10 −11 ) for liver-iron-content and liver-cell-carcinoma. Likewise, these SNPs remained undetected using the default parameters (P = 7.58 × 10 −4 ). Furthermore, our analysis confirmed previously known pathways, such as hyperlipidemia in heart diseases and gene ME1 in liver cancer. In conclusion, we propose a robust and powerful framework to infer causality across diverse populations and easily adaptable to different diseases.

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An optimized instrument variable selection approach to improve causality estimation in association studies

Sharma,

Jangale,

Swain

et al. 2024

Sci Rep

View full text Add to dashboard Cite

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

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Roles of Phosphatidylinositol 4-Phosphorylation in Non-vesicular Cholesterol Trafficking

Cited by 1 publication

References 131 publications

An optimized instrument variable selection approach to improve causality estimation in association studies

An optimized instrument variable selection approach to improve causality estimation in association studies

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