Publication Date:
2014-05-03
Description:
To extend our understanding of the genetic basis of human immune function and dysfunction, we performed an expression quantitative trait locus (eQTL) study of purified CD4(+) T cells and monocytes, representing adaptive and innate immunity, in a multi-ethnic cohort of 461 healthy individuals. Context-specific cis- and trans-eQTLs were identified, and cross-population mapping allowed, in some cases, putative functional assignment of candidate causal regulatory variants for disease-associated loci. We note an over-representation of T cell-specific eQTLs among susceptibility alleles for autoimmune diseases and of monocyte-specific eQTLs among Alzheimer's and Parkinson's disease variants. This polarization implicates specific immune cell types in these diseases and points to the need to identify the cell-autonomous effects of disease susceptibility variants.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Raj, Towfique -- Rothamel, Katie -- Mostafavi, Sara -- Ye, Chun -- Lee, Mark N -- Replogle, Joseph M -- Feng, Ting -- Lee, Michelle -- Asinovski, Natasha -- Frohlich, Irene -- Imboywa, Selina -- Von Korff, Alina -- Okada, Yukinori -- Patsopoulos, Nikolaos A -- Davis, Scott -- McCabe, Cristin -- Paik, Hyun-il -- Srivastava, Gyan P -- Raychaudhuri, Soumya -- Hafler, David A -- Koller, Daphne -- Regev, Aviv -- Hacohen, Nir -- Mathis, Diane -- Benoist, Christophe -- Stranger, Barbara E -- De Jager, Philip L -- F32 AG043267/AG/NIA NIH HHS/ -- RC2 GM093080/GM/NIGMS NIH HHS/ -- Howard Hughes Medical Institute/ -- New York, N.Y. -- Science. 2014 May 2;344(6183):519-23. doi: 10.1126/science.1249547.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Departments of Neurology and Psychiatry, Brigham and Women's Hospital, Boston, MA 02115, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/24786080" target="_blank"〉PubMed〈/a〉
Keywords:
Adaptive Immunity/genetics
;
Alleles
;
Alzheimer Disease/ethnology/genetics
;
Autoimmune Diseases/ethnology/*genetics
;
Autoimmunity/*genetics
;
CD4-Positive T-Lymphocytes/*immunology
;
Ethnic Groups/genetics
;
Genetic Predisposition to Disease/ethnology/*genetics
;
Genome-Wide Association Study
;
Humans
;
Immunity, Innate/genetics
;
Monocytes/*immunology
;
Multiple Sclerosis/ethnology/genetics
;
Neurodegenerative Diseases/ethnology/*genetics
;
Parkinson Disease/ethnology/genetics
;
Polymorphism, Single Nucleotide
;
Quantitative Trait Loci
;
Rheumatic Fever/ethnology/genetics
;
Transcriptome
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
Permalink
