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Research Resources: Epigenomic and Transcriptomic Profile of Human Immune Cells

Award Number: R24AI108564
ORGANIZATION: NATIONAL INSTITUTE OF ALLERGY & INFECTIOUS DISEASES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 08/01/2014
PERIOD OF PERFORMANCE END DATE: 08/31/2030

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Research Resources: Epigenomic and Transcriptomic Profile of Human Immune Cells - PROJECT SUMMARY While an enormous number of genetic variants have been associated with risk for human disease, how these variants affect gene expression in various cell types remains largely unknown. To address this gap as it relates to immune cells, as well as to identify which immune cell types are most susceptible to the effects of disease- risk variants, the DICE (Database of Immune Cell Expression, Expression quantitative trait loci (eQTLs) and Epigenomics) project was funded by the current R24 resource grant (R24AI108564). Although several autoimmune diseases like Systemic lupus erythematosus (SLE), display severe clinical manifestations in patients of Hispanic/Latino, Asian and African ancestry, the genetic risk factors that influence disease mechanisms have not been extensively studied, largely due to the exclusive focus of the initial genome-wide association studies (GWAS) on individuals of European ancestry. However, recent multi-ancestry GWAS meta- analyses that included individuals of diverse ancestries have identified many ancestry-specific disease-risk variants. To translate the biological significance of these GWAS-led discoveries in under-represented populations, high-resolution eQTL studies in immune cell types from individuals of diverse ancestries are needed to define the effects of disease-risk variants. While the current DICE cohort is more diverse (46% Europeans) compared to other large-scale eQTL studies, there remains a need to include equal representation from other globally prevalent ancestral populations. In Aim 1, we will generate transcriptomic and eQTL reference data in common and rare circulating immune cell types from equal numbers of male and female individuals of Hispanic/Latino, African, East Asian, South Asian and European ancestries (n=350; n=70/ancestral group) – DICE-Diversity resource project. We will perform single-cell RNA-seq in flow-sorted immune cell types and conduct single-cell-eQTL mapping to test associations between variants and gene expression. In Aim 2, we will define genes and cell types associated with autoimmune diseases in diverse populations, including minorities. To accomplish this objective, we will perform TWAS and colocalization analysis to integrate published multi-ancestry GWAS in autoimmune disease and eQTL datasets in immune cell types generated in this DICE-Diversity project. In Aim 3, we will make DICE data accessible and visible to the broader scientific community. We will expand our existing website to make current and newly generated experimental data and analysis tools available to the community. Overall, the renewal of the DICE project will greatly enrich this dataset with descriptions from individuals of different ancestries. The new DICE-Diversity database of transcriptomic and eQTL data for the human immune system should also facilitate mechanistic and functional investigations into the role of disease-risk variants emerging from multi-ancestry GWAS studies and eventually benefit health outcomes in diverse populations, including minorities.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2025 ( Subtotal = $1,301,799 )
2025	2025	LA JOLLA INSTITUTE FOR IMMUNOLOGY	9420 ATHENA CIR	LA JOLLA	CA	92037	SAN DIEGO	USA	Allergy and Infectious Diseases Research	000	10	9/4/2025	COMPETING CONTINUATION	$1,301,799
														Subtotal = $1,301,799

Issue Date FY: 2023 ( Subtotal = $1,093,781 )
2023	2023	LA JOLLA INSTITUTE FOR IMMUNOLOGY	9420 ATHENA CIR	LA JOLLA	CA	92037	SAN DIEGO	USA	Allergy and Infectious Diseases Research	000	9	7/26/2023	NON-COMPETING CONTINUATION	$1,093,781
														Subtotal = $1,093,781

Issue Date FY: 2022 ( Subtotal = $1,090,250 )
2022	2022	LA JOLLA INSTITUTE FOR IMMUNOLOGY	9420 ATHENA CIR	LA JOLLA	CA	92037	SAN DIEGO	USA	Allergy and Infectious Diseases Research	000	8	7/12/2022	NON-COMPETING CONTINUATION	$1,090,250
														Subtotal = $1,090,250

Issue Date FY: 2021 ( Subtotal = $1,038,264 )
2021	2021	LA JOLLA INSTITUTE FOR IMMUNOLOGY	9420 ATHENA CIR	LA JOLLA	CA	92037	SAN DIEGO	USA	Allergy and Infectious Diseases Research	000	7	8/5/2021	NON-COMPETING CONTINUATION	$1,038,264
														Subtotal = $1,038,264

Issue Date FY: 2020 ( Subtotal = $1,043,779 )
2020	2020	LA JOLLA INSTITUTE FOR IMMUNOLOGY	9420 ATHENA CIR	LA JOLLA	CA	92037	SAN DIEGO	USA	Allergy and Infectious Diseases Research	001	6	7/31/2020	NON-COMPETING CONTINUATION	$1,043,779
2020	2017	LA JOLLA INSTITUTE FOR IMMUNOLOGY	9420 ATHENA CIR	LA JOLLA	CA	92037	SAN DIEGO	USA	Allergy and Infectious Diseases Research	000	4	3/25/2020	NON-COMPETING CONTINUATION	$0
														Subtotal = $1,043,779

Issue Date FY: 2019 ( Subtotal = $1,068,062 )
2019	2019	LA JOLLA INSTITUTE FOR ALLERGY AND IMMUNOLOGY	9420 ATHENA CIR	LA JOLLA	CA	92037	SAN DIEGO	USA	Allergy and Infectious Diseases Research	000	5	7/25/2019	COMPETING CONTINUATION	$1,068,062
														Subtotal = $1,068,062

Issue Date FY: 2017 ( Subtotal = $899,177 )
2017	2017	LA JOLLA INSTITUTE FOR ALLERGY AND IMMUNOLOGY	9420 ATHENA CIR	LA JOLLA	CA	92037	SAN DIEGO	USA	Allergy and Infectious Diseases Research	000	4	7/13/2017	NON-COMPETING CONTINUATION	$899,177
														Subtotal = $899,177

Issue Date FY: 2016 ( Subtotal = $1,204,371 )
2016	2016	LA JOLLA INSTITUTE FOR ALLERGY & IMMUNOLOGY	10355 SCIENCE CENTER DRIVE	SAN DIEGO	CA	92121	SAN DIEGO	USA	Allergy and Infectious Diseases Research	001	3	8/17/2016	NON-COMPETING CONTINUATION	$305,194
2016	2016	LA JOLLA INSTITUTE FOR ALLERGY & IMMUNOLOGY	10355 SCIENCE CENTER DRIVE	SAN DIEGO	CA	92121	SAN DIEGO	USA	Allergy and Infectious Diseases Research	000	3	6/27/2016	NON-COMPETING CONTINUATION	$899,177
														Subtotal = $1,204,371

Issue Date FY: 2015 ( Subtotal = $1,205,532 )
2015	2015	LA JOLLA INSTITUTE FOR ALLERGY & IMMUNOLOGY	10355 SCIENCE CENTER DRIVE	SAN DIEGO	CA	92121	SAN DIEGO	USA	Allergy and Infectious Diseases Research	000	2	7/17/2015	NON-COMPETING CONTINUATION	$1,205,532
														Subtotal = $1,205,532

Issue Date FY: 2014 ( Subtotal = $899,177 )
2014	2014	LA JOLLA INSTITUTE FOR ALLERGY & IMMUNOLOGY	10355 SCIENCE CENTER DRIVE	SAN DIEGO	CA	92121	SAN DIEGO	USA	Allergy and Infectious Diseases Research	001	1	7/24/2014	NEW	$0
2014	2014	LA JOLLA INSTITUTE FOR ALLERGY & IMMUNOLOGY	10355 SCIENCE CENTER DRIVE	SAN DIEGO	CA	92121	SAN DIEGO	USA	Allergy and Infectious Diseases Research	000	1	7/22/2014	NEW	$899,177
														Subtotal = $899,177

Grand Total All Awards = $10,844,192

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Research Resources: Epigenomic and Transcriptomic Profile of Human Immune Cells

Award Number: R24AI108564

ORGANIZATION: NATIONAL INSTITUTE OF ALLERGY & INFECTIOUS DISEASES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 08/01/2014

PERIOD OF PERFORMANCE END DATE: 08/31/2030

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