GENETIC ANALYSIS OF ALOPECIA AREATA

斑秃的遗传分析

• 批准号: 2793460
• 负责人: Mariza de ANDRADE
• 金额: $ 7.48万
• 依托单位: UNIVERSITY OF TX MD ANDERSON CAN CTR
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-09-30 至 2001-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2793460
• 关键词: MHC class II antigen; alleles; alopecia; autoimmune disorder; clinical research; family genetics; genetic markers; genetic models; genetic polymorphism; genetic susceptibility; histocompatibility typing; human genetic material tag; immunogenetics; linkage disequilibriums; linkage mapping; major histocompatibility complex; orphan disease /drug; polymerase chain reaction

Alopecia Areata, patchy hair loss which may progress to total scalp or body hair loss, affects 1-2 percent of the population. We hypothesize that Alopecia Areata is an HLA (histocompatibility locus antigens) restricted, T cell mediated autoimmune reaction to hair follicle antigens or viral infection resulting from the interactions of multiple genes of immune response which may result in the production of specific antibodies to the hair follicle. Alopecia Areata occurs with other autoimmune diseases, in identical twins and in families. It is associated with HLA alleles and with other immune related genes that may interact to determine susceptibility, resistance, and persistence. Possible viral infection and antibodies to hair follicle, melanocytes, keratinocytes, and endothelial cells are of unknown significance. Our goal is to investigate the genetic mechanism of Alopecia Areata in families of the purpose of disease prevention, early intervention, and development of specific therapies. We propose: a) to identify and collect DNA from AA families; b) to determine the genetic models for Alopecia Areata by using the simultaneous information on both the aggregation and association of the HLA marker with the disease and also on the risk of being affected for some relatives of a patient; c) to identify disease-predisposing amino acids in the HLA region involved in the Alopecia Areata process; d) to identify polymorphic markers for genetic loci that are associated with Alopecia Areata in families. To accomplish aim a we will collect families from several dermatology clinics in Houston. For aims b and c we will apply MASC and haplotype methods. For aim d, we will use parametric and nonparametric linkage methods.

斑秃，斑片状脱发，可能进展到整个头皮或 身体脱发，影响1- 2%的人口。我们假设 斑秃是HLA（组织相容性位点抗原） 限制性T细胞介导的毛囊自身免疫反应 抗原或病毒感染导致的相互作用， 免疫反应的基因，可能导致产生特定的 毛囊的抗体 斑秃发生在其他 自身免疫性疾病，在同卵双胞胎和家庭中。 是 与HLA等位基因和其他免疫相关基因相关， 相互作用以确定易感性、抗性和持久性。 可能是病毒感染和毛囊黑素细胞抗体， 角质形成细胞和内皮细胞的重要性未知。我们 目的是探讨斑秃的遗传机制， 家庭的目的，疾病预防，早期干预， 发展特殊疗法。 我们建议：（a）确定和 从AA家庭收集DNA; B）确定AA的遗传模型， 斑秃通过使用同时在两个信息 HLA标记物与疾病的聚集和关联， 病人的某些亲属有受影响的风险; c） 确定HLA区域中涉及疾病易感性的氨基酸， 斑秃过程; d）鉴定用于以下的多态性标记： 与家族中的斑秃相关的遗传基因座。 到 完成目标a，我们将收集家庭从几个皮肤科 休斯顿的诊所 对于目标B和c，我们将应用MASC和单倍型 方法. 对于目标d，我们将使用参数和非参数链接 方法.