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Multi-racial genetic analysis of hidradenitis suppurativa

化脓性汗腺炎的多种族遗传分析

基本信息

批准号：
10653991
负责人：
Wilson Liao
金额：
$ 75.1万
依托单位：
UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-07-16 至 2026-06-30
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10653991
关键词：
Abscess Academia Acceleration Address Affect African American African American population African ancestry American Architecture Asian Asian ancestry Asian population Atopic Dermatitis Bioinformatics Biological Biological Assay Buttocks Cell Communication Cells Chinese Clinical Data Collaborations Cytometry DNA Data Data Set Deposition Development Disease Emotional Ethnic Origin Europe European European ancestry Exhibits FDA approved Foundations Future Genetic Genetic Risk Genetic study Genotype Grant Hidradenitis Suppurativa Immune Immunobiology Immunologist Individual Inflammatory Inguinal region International Knowledge Latino Population Link Luciferases Lupus Mediating Meta-Analysis Methods Minority Morbidity - disease rate Nodule North America Outcome Pathogenesis Pathway interactions Patients Phenotype Population Predisposition Prevalence Proteomics Psoriasis Publications Publishing Race Registries Reporter Research Personnel Resources Risk Sampling Sarcoidosis Severities Sinus Skin Suspensions Taiwan Untranslated RNA Variant Work admixture mapping case control cell type cohort comorbidity database of Genotypes and Phenotypes deep sequencing effective therapy genetic analysis genetic architecture genetic risk factor genetic variant genome wide association study genome-wide genomic locus immunopathology innovation insight meetings multi-racial novel novel therapeutics racial difference racial disparity racial diversity racial population single-cell RNA sequencing skin barrier skin disorder therapeutic target transcriptome transcriptomics treatment response

项目摘要

Project summary Hidradenitis suppurativa (HS) is an underrecognized common, immune-mediated skin disease characterized by inflammatory nodules, abscesses, and sinus tracts in the groin, buttocks, and axillae leading to devasting physical and emotional morbidity. HS significantly affects European Americans and minorities such as African-Americans, Asians, and Latinos. Treatments for HS are poor, with only a single FDA-approved therapy available. The paucity of treatments is driven by a profound lack of understanding of HS pathogenesis, particularly with respect to the genetic pathways involved. In this application, we utilize a variety of innovative approaches to address this significant gap. First, we perform a genome-wide association study (GWAS) in European, African American, and Asian HS cases and healthy controls. Second, we perform trans-ethnic genome wide meta-analysis to identify shared and distinct genetic risk factors. Third, we will perform multi-racial spatial transcriptomics and proteomics of HS skin to elucidate cell-cell interactions, and further identify causal GWAS variants through luciferase reporter assays. Together, these studies will advance our knowledge of the genetic architecture and immunobiology of HS in different racial populations and identify new biologic pathways that can be therapeutically targeted.

项目摘要化脓性汗腺炎（HS）是一种未被充分认识的常见免疫介导的皮肤病以腹股沟、臀部和腋窝的炎性结节、肿胀和窦道为特征导致身体和精神上的疾病HS严重影响欧洲裔美国人，少数民族，如非洲裔美国人，亚洲人和拉丁美洲人。HS的治疗很差，只有一个单一FDA批准的治疗方法可用。治疗方法的缺乏是由于严重缺乏理解HS发病机制，特别是涉及的遗传途径。在这在应用方面，我们利用各种创新方法来解决这一重大差距。首先，我们执行在欧洲、非洲裔美国人和亚洲HS病例中进行的全基因组关联研究（GWAS），健康对照其次，我们进行跨种族基因组的荟萃分析，以确定共享和不同的遗传风险因素。第三，我们将进行多种族空间转录组学和蛋白质组学研究， HS皮肤，以阐明细胞-细胞相互作用，并通过荧光素酶进一步鉴定因果GWAS变体报告基因测定。总之，这些研究将推进我们对遗传结构的了解， HS在不同种族人群中的免疫生物学，并确定可以治疗靶向。