Genetic Variant rs755622 Regulates Expression of the Multiple Sclerosis Severity Modifier D-Dopachrome Tautomerase in a Sex-Specific Way

BioMed Research International
Zhijie HanXiao Zou

Abstract

Multiple sclerosis (MS) is a sex-specific autoimmune disease involving central nervous system. Previous studies determined that macrophage migration inhibitory factor (MIF) and its homologue D-dopachrome tautomerase (DDT) sex-specifically affect MS progression. Moreover, other studies reported that rs755622 polymorphism in promoter region of MIF gene is associated with risk of MS and affects the promoter activity to regulate MIF expression in a sex-specific way. Given that MIF and DDT share a part of promoter sequence, we surmise that rs755622 can also regulate DDT expression in a sex-specific way. However, this has not yet been studied. Here, we used five large-scale expression quantitative trait loci (eQTLs) and two RNA-seq datasets from brain and blood to assess the potential influence of rs755622 variant on expression of DDT in different genders by the linear regression and differential expression analysis. The results show that the minor allele frequency of rs755622 and expression of DDT are significantly increased in males for MS subjects and this minor allele variant can significantly upregulate DDT expression for males but not females, which suggests that the regulation of DDT expression level by rs755622 can affect MS ...Continue Reading

References

Aug 26, 1998·Mammalian Genome : Official Journal of the International Mammalian Genome Society·N EsumiG Wistow
Sep 23, 2003·Nature Reviews. Immunology·Thierry Calandra, Thierry Roger
Mar 18, 2005·Annual Review of Immunology·Mireia Sospedra, Roland Martin
Sep 24, 2005·American Journal of Respiratory and Critical Care Medicine·Barry J PlantSeamas C Donnelly
Mar 3, 2006·The New England Journal of Medicine·Elliot M FrohmanCedric S Raine
Oct 21, 2006·Lancet Neurology·Sarah-Michelle OrtonUNKNOWN Canadian Collaborative Study Group
Nov 13, 2008·Nature Reviews. Genetics·Carole OberYoav Gilad
Apr 7, 2009·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Sachin YendeRichard Bucala
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jun 10, 2009·Bioinformatics·Heng LiUNKNOWN 1000 Genome Project Data Processing Subgroup
Aug 6, 2011·Proceedings of the National Academy of Sciences of the United States of America·Melanie MerkRichard Bucala
Apr 12, 2012·Bioinformatics·Andrey A Shabalin
Apr 18, 2012·Cytokine·Melanie MerkRichard Bucala
Jun 26, 2013·The Journal of Immunology : Official Journal of the American Association of Immunologists·Gina Mavrikis CoxCaroline C Whitacre
May 24, 2014·Lancet Neurology·Stephen SawcerMaria Ban
Sep 1, 2014·Nature Neuroscience·Adaikalavan RamasamyMichael E Weale
Apr 18, 2015·Genome Biology·Charles F SpurlockThomas M Aune
Jul 1, 2015·Proceedings of the National Academy of Sciences of the United States of America·Guiyou LiuRenzhi Wang
Apr 5, 2016·Nature Biotechnology·Nicolas L BrayLior Pachter
May 20, 2016·Genome Research·Kimberly R KukurbaStephen B Montgomery
May 22, 2016·Multiple Sclerosis : Clinical and Laboratory Research·Guiyou LiuJunwei Hao
Oct 30, 2016·Proceedings of the National Academy of Sciences of the United States of America·Guiyou LiuJunwei Hao
Dec 3, 2016·Nucleic Acids Research·Bronwen L AkenPaul Flicek
Dec 6, 2016·Nature Genetics·Daria V ZhernakovaLude Franke
Feb 1, 2017·Proceedings of the National Academy of Sciences of the United States of America·Guiyou LiuQinghua Jiang
Feb 6, 2017·American Journal of Human Genetics·Luke R Lloyd-JonesJoseph E Powell
Apr 22, 2017·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Yang HuGuiyou Liu
Sep 9, 2017·Proceedings of the National Academy of Sciences of the United States of America·Yang HuQinghua Jiang
Sep 20, 2017·Proceedings of the National Academy of Sciences of the United States of America·Gil BenedekArthur A Vandenbark
Dec 28, 2017·Proceedings of the National Academy of Sciences of the United States of America·Noriko ItohRhonda R Voskuhl
Jan 15, 2018·Journal of Alzheimer's Disease : JAD·Guiyou LiuQinghua Jiang
Feb 15, 2018·Cold Spring Harbor Perspectives in Medicine·Nikolaos A Patsopoulos
May 29, 2018·Journal of the Neurological Sciences·Yan ZhangGuiyou Liu

❮ Previous
Next ❯

Datasets Mentioned

BETA
GSE100297
GSE66573

Methods Mentioned

BETA
RNA-seq
genotyping

Software Mentioned

BIOS QTL Browser
R package ‘ Matrix eQTL '
BWA
R package ‘ Genetics
Kallisto
Braineac
R package ‘ Genetics '
R
GTEx
SAMtools

Related Concepts

Related Feeds

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.

Cell Migration

Cell migration is involved in a variety of physiological and pathological processes such as embryonic development, cancer metastasis, blood vessel formation and remoulding, tissue regeneration, immune surveillance and inflammation. Here is the latest research.