作者
Sodbo Zh Sharapov, Yakov A Tsepilov, Lucija Klaric, Massimo Mangino, Gaurav Thareja, Alexandra S Shadrina, Mirna Simurina, Concetta Dagostino, Julia Dmitrieva, Marija Vilaj, Frano Vuckovic, Tamara Pavic, Jerko Stambuk, Irena Trbojevic-Akmacic, Jasminka Kristic, Jelena Simunovic, Ana Momcilovic, Harry Campbell, Margaret Doherty, Malcolm G Dunlop, Susan M Farrington, Maja Pucic-Bakovic, Christian Gieger, Massimo Allegri, Edouard Louis, Michel Georges, Karsten Suhre, Tim Spector, Frances MK Williams, Gordan Lauc, Yurii S Aulchenko
发表日期
2019/3/11
期刊
Human Molecular Genetics
卷号
28
期号
12
页码范围
2062-2077
出版商
Oxford University Press
简介
Glycosylation is a common post-translational modification of proteins. Glycosylation is associated with a number of human diseases. Defining genetic factors altering glycosylation may provide a basis for novel approaches to diagnostic and pharmaceutical applications. Here we report a genome-wide association study of the human blood plasma N-glycome composition in up to 3811 people measured by Ultra Performance Liquid Chromatography (UPLC) technology. Starting with the 36 original traits measured by UPLC, we computed an additional 77 derived traits leading to a total of 113 glycan traits. We studied associations between these traits and genetic polymorphisms located on human autosomes. We discovered and replicated 12 loci. This allowed us to demonstrate an overlap in genetic control between total plasma protein and IgG glycosylation. The majority of revealed loci contained genes that …
学术搜索中的文章
SZ Sharapov, YA Tsepilov, L Klaric, M Mangino… - Human molecular genetics, 2019