Identification of genetic loci and pathways underlying hidradenitis suppurativa risk
识别化脓性汗腺炎风险的遗传位点和途径
基本信息
- 批准号:9976890
- 负责人:
- 金额:$ 20.34万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2020
- 资助国家:美国
- 起止时间:2020-09-08 至 2022-08-31
- 项目状态:已结题
- 来源:
- 关键词:AbscessAddressAdultAdvocateAffectAgingApocrine GlandsAreaArthritisAxillaBasic ScienceBlood specimenBody mass indexBreastButtocksCaliforniaCaregiversChronicCicatrixClinicalCommunitiesComplexConsentCystDataDevelopmentDiseaseElectronic Health RecordEnsureEnvironmental Risk FactorEtiologyEvaluationFamily history ofFoundationsFunctional disorderFundingFunding OpportunitiesFutureGenesGeneticGenetic Predisposition to DiseaseGenetic RiskGenetic Skin DiseasesGenomic SegmentGenomicsGenotypeGeographyGoalsHealthHealthcareHidradenitis SuppurativaIndividualInflammatoryInguinal regionInheritedInstitutesInstitutionInvestigationKnowledgeLeadLettersMedical GeneticsMeta-AnalysisModificationMolecularMusculoskeletalMutationNational Institute of Arthritis and Musculoskeletal and Skin DiseasesNodulePainPathogenesisPathologyPathway AnalysisPathway interactionsPatientsPlayPopulation GeneticsPredispositionPrincipal InvestigatorProteinsReportingResearchResourcesRiskRoleSamplingSignal PathwaySingle Nucleotide PolymorphismSinusSmokingSmoking StatusSourceSusceptibility GeneTestingTherapeuticTissuesTranslational ResearchUncertaintyVariantbasebiobankcausal variantcell typechronic inflammatory skincohortcost efficientdesigndisorder riskepidemiology studyepigenomicsgamma secretasegene environment interactiongenetic architecturegenetic associationgenetic epidemiologygenetic resourcegenetic variantgenome wide association studygenomic locushair follicle disorderimprovedin silicoinnovationinsightinterestnew therapeutic targetnovelnovel diagnosticsnovel therapeuticspopulation stratificationpresenilin-1preventrepositorysexskin disorderstatisticstertiary care
项目摘要
ABSTRACT
Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease primarily affecting apocrine gland-rich
areas of the body and presenting with painful nodules, abscesses, sinus tracts, and scarring. HS is a
multifactorial disease in which genetic and environmental factors play a key role. Genetic has been strongly
implicated in HS risk, with 30%–40% of patients reporting a family history of HS, but the genetic architecture of
HS is poorly defined. Furthermore, genome wide association studies (GWAS), an established approach for
elucidating genetic etiology of complex disease, have never been conducted in patients with HS. This project
will utilize well-established cohorts of existing clinical and genotyped data from two institutional sources to
identify and validate HS susceptibility loci. These include the large, well-characterized, community-based
Genetic Epidemiology Research in Adult Health and Aging (GERA) cohort in Kaiser Permanente Northern
California (n=102,854), and the comprehensive, tertiary-care based Partners Healthcare Biobank cohort
(n=104,008). Using a GWAS approach, we will identify and validate HS susceptibility loci in two independent
cohorts and examine gene-environment interactions by assessing modifications in genetic risk with smoking
and body mass index. We will then perform a meta-analysis combining GERA, Partners Biobank and UK
Biobank cohort data (n~500,000) and validate all identified HS loci using summary statistics provided by the
23andMe cohort. Finally, we will examine the functional role of our identified SNPs by performing
comprehensive functional annotation and pathway analysis to identify molecular signaling pathways involved in
HS pathogenesis. The overall scientific objective of this proposal is to identify and validate HS
susceptibility loci, examine gene-environment interactions, and gain insight into the molecular
pathway involved in its pathogenesis with the long-term goal of uncovering putative new therapeutic
targets. By focusing on the genetic etiology of HS, this proposal is highly responsive to the NIAMS Funding
Announcement Opportunity PA-18-718 specifically addressing genetic susceptibility studies as a defined area
of interest, and entitled: Accelerating Basic and Translational Research in Hidradenitis Suppurativa. Our
approach is innovative because it proposes a GWAS, which has not previously been performed for this
understudied disorder and proposes to study gene-environmental interactions. Our findings will not only yield
valuable information on the genetics of HS susceptibility, but also will serve as a publicly accessible resource
for the scientific community. The proposed research is significant because it will provide a comprehensive
picture of HS genetic risk and will pave the way for new diagnostic and therapeutic opportunities. This high-
impact proposal seeks to identify mechanisms underlying increased inherited HS susceptibility to improve our
understanding of HS pathogenesis and inform development of novel therapeutic options to better control and
ultimately prevent the onset of this debilitating, chronic skin disease.
摘要
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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MARYAM Mandana ASGARI其他文献
MARYAM Mandana ASGARI的其他文献
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{{ truncateString('MARYAM Mandana ASGARI', 18)}}的其他基金
Patient oriented research and mentoring program in dermatologic diseases
以患者为中心的皮肤病研究和指导计划
- 批准号:
10685455 - 财政年份:2023
- 资助金额:
$ 20.34万 - 项目类别:
Patient oriented research and mentoring program in dermatologic diseases
以患者为中心的皮肤病研究和指导计划
- 批准号:
10835532 - 财政年份:2023
- 资助金额:
$ 20.34万 - 项目类别:
Identification of genetic loci and pathways underlying hidradenitis suppurativa risk
识别化脓性汗腺炎风险的遗传位点和途径
- 批准号:
10256622 - 财政年份:2020
- 资助金额:
$ 20.34万 - 项目类别:
The Role of Genetic Risk Factors in Keratinocyte Carcinoma Susceptibility
遗传危险因素在角质形成细胞癌易感性中的作用
- 批准号:
10606627 - 财政年份:2020
- 资助金额:
$ 20.34万 - 项目类别:
The Role of Genetic Risk Factors in Keratinocyte Carcinoma Susceptibility
遗传危险因素在角质形成细胞癌易感性中的作用
- 批准号:
10356846 - 财政年份:2020
- 资助金额:
$ 20.34万 - 项目类别:
The Role of Genetic Risk Factors in Keratinocyte Carcinoma Susceptibility
遗传危险因素在角质形成细胞癌易感性中的作用
- 批准号:
10116335 - 财政年份:2020
- 资助金额:
$ 20.34万 - 项目类别:
PQ3 Cutaneous squamous cell carcinoma: Integrating germline and somatic alterations that underlie tumor progression
PQ3 皮肤鳞状细胞癌:肿瘤进展背后的种系和体细胞改变的整合
- 批准号:
10380108 - 财政年份:2019
- 资助金额:
$ 20.34万 - 项目类别:
PQ3 Cutaneous squamous cell carcinoma: Integrating germline and somatic alterations that underlie tumor progression
PQ3 皮肤鳞状细胞癌:肿瘤进展背后的种系和体细胞改变的整合
- 批准号:
10836131 - 财政年份:2019
- 资助金额:
$ 20.34万 - 项目类别:
PQ3 Cutaneous squamous cell carcinoma: Integrating germline and somatic alterations that underlie tumor progression
PQ3 皮肤鳞状细胞癌:肿瘤进展背后的种系和体细胞改变的整合
- 批准号:
10115644 - 财政年份:2019
- 资助金额:
$ 20.34万 - 项目类别:
PQ3 Cutaneous squamous cell carcinoma: Integrating germline and somatic alterations that underlie tumor progression
PQ3 皮肤鳞状细胞癌:肿瘤进展背后的种系和体细胞改变的整合
- 批准号:
9916722 - 财政年份:2019
- 资助金额:
$ 20.34万 - 项目类别:
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