The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases

AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …

Regulatory SNPs: altered transcription factor binding sites implicated in complex traits and diseases

AO Degtyareva, EV Antontseva… - International journal of …, 2021 - mdpi.com
The vast majority of the genetic variants (mainly SNPs) associated with various human traits
and diseases map to a noncoding part of the genome and are enriched in its regulatory …

HOCOMOCO: towards a complete collection of transcription factor binding models for human and mouse via large-scale ChIP-Seq analysis

IV Kulakovskiy, IE Vorontsov, IS Yevshin… - Nucleic acids …, 2018 - academic.oup.com
We present a major update of the HOCOMOCO collection that consists of patterns
describing DNA binding specificities for human and mouse transcription factors. In this …

Analysis of herpesvirus infection and genome single nucleotide polymorphism risk factors in multiple sclerosis, Volga federal district, Russia

V Lezhnyova, Y Davidyuk, A Mullakhmetova… - Frontiers in …, 2022 - frontiersin.org
Multiple sclerosis (MS) is a heterogeneous disease where herpesvirus infection and genetic
predisposition are identified as the most consistent risk factors. Serum and blood samples …

[HTML][HTML] Minor C allele of the SNP rs7873784 associated with rheumatoid arthritis and type-2 diabetes mellitus binds PU. 1 and enhances TLR4 expression.

KV Korneev, EN Sviriaeva, NA Mitkin… - … et Biophysica Acta (BBA …, 2020 - Elsevier
Abstract Toll-like receptor 4 (TLR4) is an innate immunity receptor predominantly expressed
on myeloid cells and involved in the development of various diseases, many of them with …

[HTML][HTML] Analysis of single nucleotide polymorphisms in HLA-DRA, IL2RA, and HMGB1 genes in multiple sclerosis

M Asouri, HA Rokni, MA Sahraian… - … of Biochemistry & …, 2020 - ncbi.nlm.nih.gov
Background: Multiple sclerosis (MS) is a common demyelinating neurodegenerative
disorder with significant heritability. Previous studies have associated genetic variants in …

Severe chronic kidney disease environment reduced calcium-sensing receptor expression in parathyroid glands of adenine-induced rats even without high …

T Uchiyama, I Ohkido, A Nakashima, Y Saito, M Okabe… - BMC nephrology, 2020 - Springer
Background Chronic kidney disease (CKD) disrupts mineral homeostasis and its main
underlying cause is secondary hyperparathyroidism (SHPT). We previously reported that …

Reworking GWAS data to understand the role of nongenetic factors in MS etiopathogenesis

R Mechelli, R Umeton, G Manfrè, S Romano… - Genes, 2020 - mdpi.com
Genome-wide association studies have identified more than 200 multiple sclerosis (MS)-
associated loci across the human genome over the last decade, suggesting complexity in …

The GALNT14 Genotype Predicts Postoperative Outcome of Pancreatic Ductal Adenocarcinoma

CC Chiang, CT Yeh, TL Hwang, YD Chu… - Journal of Clinical …, 2019 - mdpi.com
Pancreatic ductal adenocarcinoma (PDA) is notorious for its poor prognosis. The current
mainstay of treatment for PDA is surgical resection followed by adjuvant chemotherapy …

Investigating the Role of Noncoding De Novo Single-Nucleotide Variants in Autism Spectrum Disorder

C Castro - 2023 - deepblue.lib.umich.edu
Autism spectrum disorder (ASD) is a complex and heterogeneous neurodevelopmental
condition characterized by challenges with communication, social interaction, and behavior …