Replication of 15 loci involved in human plasma protein N-glycosylation in 4802 samples from four cohorts.

Glycobiology
Sodbo SharapovYurii S Aulchenko

Abstract

Human protein glycosylation is a complex process, and its in vivo regulation is poorly understood. Changes in glycosylation patterns are associated with many human diseases and conditions. Understanding the biological determinants of protein glycome provides a basis for future diagnostic and therapeutic applications. Genome-wide association studies (GWAS) allow to study biology via a hypothesis-free search of loci and genetic variants associated with a trait of interest. Sixteen loci were identified by three previous GWAS of human plasma proteome N-glycosylation. However, the possibility that some of these loci are false positives needs to be eliminated by replication studies, which have been limited so far. Here, we use the largest set of samples so far (4802 individuals) to replicate the previously identified loci. For all but one locus, the expected replication power exceeded 95%. Of the 16 loci reported previously, 15 were replicated in our study. For the remaining locus (near the KREMEN1 gene), the replication power was low, and hence, replication results were inconclusive. The very high replication rate highlights the general robustness of the GWAS findings as well as the high standards adopted by the community that studi...Continue Reading

References

Jul 23, 2005·Glycobiology·Christelle BretonAnne Imberty
Sep 9, 2006·Cell·Kazuaki Ohtsubo, Jamey D Marth
Mar 12, 2009·Journal of Cellular Physiology·Antti RivinojaSakari Kellokumpu
Mar 17, 2009·Bioorganic & Medicinal Chemistry·Danielle Skropeta
Jul 22, 2009·Experimental Cell Research·Ingrid RoxrudHarald Stenmark
Dec 29, 2009·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Joomi AhnMartin Gilar
May 11, 2010·Statistical Science : a Review Journal of the Institute of Mathematical Statistics·Peter KraftJohn P A Ioannidis
Jan 1, 2013·Diabetes·Gaya ThanabalasinghamAlan F Wright
Jan 10, 2013·PLoS Computational Biology·William S Bush, Jason H Moore
Apr 22, 2015·Inflammatory Bowel Diseases·Irena Trbojević AkmačićUNKNOWN IBD-BIOM Consortium
Oct 27, 2015·Biochimica Et Biophysica Acta·Gordan LaucHarry Campbell
Nov 12, 2015·Glycoconjugate Journal·Florent ClercManfred Wuhrer
Dec 8, 2015·American Journal of Human Genetics·Julien H ParkThorsten Marquardt
Mar 24, 2016·Oncotarget·Jennifer Munkley, David J Elliott
Jul 3, 2017·Biochimica Et Biophysica Acta. General Subjects·Roosmarijn F H LemmersMandy van Hoek
Jul 22, 2017·The Journal of Biological Chemistry·Hideyuki TakeuchiRobert S Haltiwanger
Mar 25, 2018·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Ivan GudeljGordan Lauc
Jun 5, 2019·Human Molecular Genetics·Sodbo Zh SharapovYurii S Aulchenko
Jul 3, 2019·Frontiers in Cell and Developmental Biology·Sakari Kellokumpu
Nov 22, 2019·Journal of Proteome Research·Olga O ZaytsevaMislav Novokmet

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.