Beyond GWASs: illuminating the dark road from association to function

SL Edwards, J Beesley, JD French… - The American Journal of …, 2013 - cell.com
Genome-wide association studies (GWASs) have enabled the discovery of common genetic
variation contributing to normal and pathological traits and clinical drug responses, but …

Research progress in allele-specific expression and its regulatory mechanisms

U Gaur, K Li, S Mei, G Liu - Journal of applied genetics, 2013 - Springer
Although the majority of genes are expressed equally from both alleles, some genes are
differentially expressed. Organisms possess characteristics to preferentially express a …

Sex-and age-dependent DNA methylation at the 17q12-q21 locus associated with childhood asthma

AK Naumova, A Al Tuwaijri, A Morin, VT Vaillancout… - Human genetics, 2013 - Springer
Abstract Chromosomal region 17q12-q21 is one of the best-replicated genome-wide
association study (GWAS) hits and associated with childhood-onset asthma. However, the …

The UPR and lung disease

F Osorio, B Lambrecht, S Janssens - Seminars in immunopathology, 2013 - Springer
The respiratory tract has a surface area of approximately 70 m 2 that is in direct contact with
the external environment. Approximately 12,000 l of air are inhaled daily, exposing the …

Genetics of onset of asthma

FN Dijk, JC de Jongste, DS Postma… - Current opinion in …, 2013 - journals.lww.com
Although most asthma starts early in life, no valid test is able to identify asthma at that age
period. GWA studies have provided more insight into the unique and common genetic …

17q12-21 and asthma: interactions with early-life environmental exposures

M Blekic, BK Bukvic, N Aberle, S Marinho… - Annals of Allergy …, 2013 - Elsevier
BACKGROUND: 17q12-21 polymorphisms are associated with asthma presence and
severity across different populations. OBJECTIVE: To extensively investigate the genes in …

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

P Holton, M Ryten, M Nalls, D Trabzuni… - Annals of human …, 2013 - Wiley Online Library
Recent genome wide association studies have identified CLU, CR1, ABCA7 BIN1, PICALM
and MS4A6A/MS4A6E in addition to the long established APOE, as loci for Alzheimer's …

The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts

FS Morrison, JM Locke, AR Wood, M Tuke, D Pasko… - BMC genomics, 2013 - Springer
Background Many genetic variants have been associated with susceptibility to complex traits
by genome wide association studies (GWAS), but for most, causal genes and mechanisms …

Sphingolipids and susceptibility to asthma

BD Levy - New England Journal of Medicine, 2013 - Mass Medical Soc
The most highly replicated asthma susceptibility locus, chromosome 17q21, houses three
genes, one of which encodes ORMDL3, a protein that can inhibit the production of …

Genetic, functional and molecular features of glucocorticoid receptor binding

F Luca, JC Maranville, AL Richards, DB Witonsky… - PloS one, 2013 - journals.plos.org
Glucocorticoids (GCs) are key mediators of stress response and are widely used as
pharmacological agents to treat immune diseases, such as asthma and inflammatory bowel …