Molecular quantitative trait loci

F Aguet, K Alasoo, YI Li, A Battle, HK Im… - Nature Reviews …, 2023 - nature.com
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

Genetics and epigenetics of primary Sjögren syndrome: implications for future therapies

GE Thorlacius, A Björk… - Nature Reviews …, 2023 - nature.com
In primary Sjögren syndrome (pSS), chronic inflammation of exocrine glands results in tissue
destruction and sicca symptoms, primarily of the mouth and eyes. Fatigue, arthralgia and …

The impact of sex on gene expression across human tissues

M Oliva, M Muñoz-Aguirre, S Kim-Hellmuth, V Wucher… - Science, 2020 - science.org
INTRODUCTION Many complex human phenotypes, including diseases, exhibit sex-
differentiated characteristics. These sex differences have been variously attributed to …

[HTML][HTML] Sex differences in gene expression and regulatory networks across 29 human tissues

CM Lopes-Ramos, CY Chen, ML Kuijjer, JN Paulson… - Cell reports, 2020 - cell.com
Sex differences manifest in many diseases and may drive sex-specific therapeutic
responses. To understand the molecular basis of sex differences, we evaluated sex-biased …

Using an atlas of gene regulation across 44 human tissues to inform complex disease-and trait-associated variation

ER Gamazon, AV Segrè, M Van De Bunt, X Wen… - Nature …, 2018 - nature.com
We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues
from the Genotype-Tissue Expression project and genome-wide association study data …

The role of sex in the genomics of human complex traits

EA Khramtsova, LK Davis, BE Stranger - Nature Reviews Genetics, 2019 - nature.com
Nearly all human complex traits and disease phenotypes exhibit some degree of sex
differences, including differences in prevalence, age of onset, severity or disease …

Genome-wide sex and gender differences in cancer

CM Lopes-Ramos, J Quackenbush… - Frontiers in oncology, 2020 - frontiersin.org
Despite their known importance in clinical medicine, differences based on sex and gender
are among the least studied factors affecting cancer susceptibility, progression, survival, and …

Sex differences in differentiated thyroid cancer

L Shobab, KD Burman, L Wartofsky - Thyroid, 2022 - liebertpub.com
Background: Sex dimorphism strongly impacts tumor biology, with most cancers having a
male predominance. Uniquely, thyroid cancer (TC) is the only nonreproductive cancer with …

Distinctive roles of age, sex, and genetics in sha** transcriptional variation of human immune responses to microbial challenges

B Piasecka, D Duffy, A Urrutia… - Proceedings of the …, 2018 - National Acad Sciences
The contribution of host genetic and nongenetic factors to immunological differences in
humans remains largely undefined. Here, we generated bacterial-, fungal-, and viral …

Sex chromosome effects on male–female differences in mammals

DM Snell, JMA Turner - Current Biology, 2018 - cell.com
Fundamental differences exist between males and females, encompassing anatomy,
physiology, behaviour, and genetics. Such differences undoubtedly play a part in the well …