The MHC locus and genetic susceptibility to autoimmune and infectious diseases
In the past 50 years, variants in the major histocompatibility complex (MHC) locus, also
known as the human leukocyte antigen (HLA), have been reported as major risk factors for …
known as the human leukocyte antigen (HLA), have been reported as major risk factors for …
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy
We report on the influence of~ 22 million variants on 731 immune cell traits in a cohort of
3,757 Sardinians. We detected 122 significant (P< 1.28× 10− 11) independent association …
3,757 Sardinians. We detected 122 significant (P< 1.28× 10− 11) independent association …
Host genetic determinants of hepatitis B virus infection
Z Zhang, C Wang, Z Liu, G Zou, J Li, M Lu - Frontiers in genetics, 2019 - frontiersin.org
Chronic hepatitis B virus (HBV) infection is still a major health problem worldwide. Recently,
a great number of genetic studies based on single nucleotide polymorphisms (SNPs) and …
a great number of genetic studies based on single nucleotide polymorphisms (SNPs) and …
Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk
Key challenges for human genetics, precision medicine and evolutionary biology include
deciphering the regulatory code of gene expression and understanding the transcriptional …
deciphering the regulatory code of gene expression and understanding the transcriptional …
Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease
Recent advances in highly multiplexed immunoassays have allowed systematic large-scale
measurement of hundreds of plasma proteins in large cohort studies. In combination with …
measurement of hundreds of plasma proteins in large cohort studies. In combination with …
Detecting long-term balancing selection using allele frequency correlation
KM Siewert, BF Voight - Molecular biology and evolution, 2017 - academic.oup.com
Balancing selection occurs when multiple alleles are maintained in a population, which can
result in their preservation over long evolutionary time periods. A characteristic signature of …
result in their preservation over long evolutionary time periods. A characteristic signature of …
Signatures of long-term balancing selection in human genomes
Balancing selection maintains advantageous diversity in populations through various
mechanisms. Although extensively explored from a theoretical perspective, an empirical …
mechanisms. Although extensively explored from a theoretical perspective, an empirical …
A review of HLA allele and SNP associations with highly prevalent infectious diseases in human populations
A Sanchez-Mazas - Swiss medical weekly, 2020 - smw.ch
Human leucocyte antigen (HLA) alleles and single nucleotide polymorphisms (SNPs) lying
in the HLA region are known to be associated with several infectious diseases among which …
in the HLA region are known to be associated with several infectious diseases among which …
Current HLA investigations on SARS-CoV-2 and perspectives
V Douillard, EC Castelli, SJ Mack, JA Hollenbach… - Frontiers in …, 2021 - frontiersin.org
The rapid, global spread of the SARS-CoV-2 virus during the current pandemic has
triggered numerous efforts in clinical and research settings to better understand the host …
triggered numerous efforts in clinical and research settings to better understand the host …
Genetic susceptibility to infectious diseases: Current status and future perspectives from genome-wide approaches
A Mozzi, C Pontremoli, M Sironi - Infection, genetics and evolution, 2018 - Elsevier
Genome-wide association studies (GWASs) have been widely applied to identify genetic
factors that affect complex diseases or traits. Presently, the GWAS Catalog includes> 2800 …
factors that affect complex diseases or traits. Presently, the GWAS Catalog includes> 2800 …