Cross-Tissue Regulatory Network Analyses Reveal Novel Susceptibility Genes and Potential Mechanisms for Endometriosis Endometriosis (EMT) is a common gynecological disease with a strong genetic component, while its precise etiology remains elusive. This study aims to integrate transcriptome-wide association study (TWAS), Mendelian randomization (MR), and bioinformatics analyses to reveal novel putatively causal genes and potential mechanisms. We obtained summary-level data of the Genotype-Tissue Expression Project (GTEx), v8 expression quantitative loci (eQTL) data, and the genome-wide association study (GWAS) data of EMT and its subtypes from the R11 release results of the FinnGen consortium for analysis. GWAS data of modifiable risk factors were collected from IEU Open GWAS. Cross-tissue TWAS analyses were performed using the unified test for molecular signature (UTMOST), while functional summary-based imputation (FUSION) was employed for single-tissue TWAS analyses. Furthermore, we also conducted multi-marker analysis of genomic annotation (MAGMA) analyses to validate the significant associations. Subsequent Mendelian randomization (MR) and colocalization analysis elucidated the causal associations between the identified genes across various tissues and EMT. To further delve into mechanisms, two-sample network MR analyses were conducted. At last, bioinformatics analyses were employed to enhance our understanding of the functional implications and expression patterns of these identified genes. For EMT, 22 significant gene signals were identified by UTMOST, 615 by FUSION, and 354 by MAGMA. Ultimately, six genes, including CISD2, EFRB, GREB1, IMMT, SULT1E1, and UBE2D3, were identified as candidate susceptibility genes for EMT. Through similar procedures, we identified GREB1, IL1A, and SULT1E1 for EMT of the ovary, and we identified GREB1 for EMT of the pelvic peritoneum, EMT of rectovaginal septum and vagina, and deep EMT. In MR analyses, the expression of IMMT in 2

Autor: Zou, Mingrui^1,2,3,4,5 (AUTHOR) 2110301145@stu.pku.edu.cn, Lin, Mingmei^1,2,3,4 (AUTHOR) linmingmei2023@163.com, Hu, Kai-Lun^1,2,3,4 (AUTHOR) hukailun@bjmu.edu.cn, Li, Rong^1,2,3,4 (AUTHOR) hukailun@bjmu.edu.cn

Publikováno v: Biology (2079-7737). Nov2024, Vol. 13 Issue 11, p871. 18p.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

A cross-tissue transcriptome-wide association study identifies WDPCP as a potential susceptibility gene for coronary atherosclerosis

Autor: Xinyue Hu, Guanglei Chen, Xiaofang Yang, Jin Cui, Ning Zhang

Publikováno v: Atherosclerosis Plus, Vol 58, Iss , Pp 59-74 (2024)

Background: Coronary atherosclerosis (CAS) is a complex chronic inflammatory disease with significant genetic and environmental contributions. While genome-wide association studies (GWAS) have pinpointed many risk loci, over 75 % are in non-coding re

Externí odkaz: https://doaj.org/article/10b4fd6d9ced4d3d89aca3bb596cdbc9

UTMOST, a single and cross-tissue TWAS (Transcriptome Wide Association Study), reveals new ASD (Autism Spectrum Disorder) associated genes

Autor: Angel Carracedo, Cristina Rodriguez-Fontenla

Publikováno v: Minerva: Repositorio Institucional de la Universidad de Santiago de Compostela
Universidad de Santiago de Compostela (USC)
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Translational Psychiatry, Vol 11, Iss 1, Pp 1-11 (2021)
Translational Psychiatry

Autism spectrum disorders (ASD) is a complex neurodevelopmental disorder that may significantly impact on the affected individual’s life. Common variation (SNPs) could explain about 50% of ASD heritability. Despite this fact and the large size of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9960249998f2c5d3ddd11255359164a6
http://hdl.handle.net/10347/26230

A cross-tissue transcriptome-wide association study reveals novel susceptibility genes for migraine.

Autor: Gui, Jianxiong¹, Yang, Xiaoyue¹, Tan, Chen¹, Wang, Lingman¹, Meng, Linxue¹, Han, Ziyao¹, Liu, Jie¹ JieLiu@hospital.cqmu.edu.cn, Jiang, Li¹ dr_jiangcqmu@163.com

Publikováno v: Journal of Headache & Pain. 6/5/2024, Vol. 25 Issue 1, p1-10. 10p.