[HTML][HTML] Analysis of GWAS-derived schizophrenia genes for links to ischemia-hypoxia response of the brain

R Schmidt-Kastner, S Guloksuz, T Kietzmann… - Frontiers in …, 2020 - frontiersin.org
Obstetric complications (OCs) can induce major adverse conditions for early brain
development and predispose to mental disorders, including schizophrenia (SCZ). We …

Inborn errors of immunity in hidradenitis suppurativa pathogenesis and disease burden

A Colvin, L Petukhova - Journal of Clinical Immunology, 2023 - Springer
Hidradenitis suppurativa (HS), also known as Verneuil's disease and acne inversa, is a
prevalent, debilitating, and understudied inflammatory skin disease. It is marked by repeated …

NOD/RIPK2 signalling pathway contributes to osteoarthritis susceptibility

MJ Jurynec, CM Gavile, M Honeggar, Y Ma… - Annals of the …, 2022 - ard.bmj.com
Objectives How inflammatory signalling contributes to osteoarthritis (OA) susceptibility is
undetermined. An allele encoding a hyperactive form of the Receptor Interacting Protein …

Modeling regulatory network topology improves genome-wide analyses of complex human traits

X Zhu, Z Duren, WH Wong - Nature communications, 2021 - nature.com
Genome-wide association studies (GWAS) have cataloged many significant associations
between genetic variants and complex traits. However, most of these findings have unclear …

Estimation of regional polygenicity from GWAS provides insights into the genetic architecture of complex traits

R Johnson, KS Burch, K Hou, M Paciuc… - PLoS computational …, 2021 - journals.plos.org
The number of variants that have a non-zero effect on a trait (ie. polygenicity) is a
fundamental parameter in the study of the genetic architecture of a complex trait. Although …

TSEA-DB: a trait–tissue association map for human complex traits and diseases

P Jia, Y Dai, R Hu, G Pei, AM Manuel… - Nucleic acids …, 2020 - academic.oup.com
Assessing the causal tissues of human traits and diseases is important for better interpreting
trait-associated genetic variants, understanding disease etiology, and improving treatment …

Bench research informed by GWAS results

NV Kondratyev, MV Alfimova, AK Golov, VE Golimbet - Cells, 2021 - mdpi.com
Scientifically interesting as well as practically important phenotypes often belong to the
realm of complex traits. To the extent that these traits are hereditary, they are usually 'highly …

The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome

M Dapas, A Dunaif - Current opinion in endocrine and metabolic research, 2020 - Elsevier
Polycystic ovary syndrome (PCOS) is a highly heritable disorder, but only a small proportion
of the heritability can be accounted for by common genetic risk variants identified to date. It is …

The impact of environmental factors on monogenic Mendelian diseases

AM Tukker, CD Royal, AB Bowman… - Toxicological …, 2021 - academic.oup.com
Environmental factors and gene-environment interactions modify the variable expressivity,
progression, severity, and onset of some classic (monogenic) Mendelian-inherited genetic …

Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy

L Petukhova, AV Patel, RK Rigo, L Bian… - Experimental …, 2020 - Wiley Online Library
Alopecia areata (AA) is a highly prevalent autoimmune disease that attacks the hair follicle
and leads to hair loss that can range from small patches to complete loss of scalp and body …