GENETIC SUSCEPTIBILITY FACTORS IN PORPHYRIA CUTANEA TARDA (PCT)

迟发性皮肤卟啉症 (PCT) 的遗传易感因素

• 批准号: 7952156
• 负责人: KARL ELMO ANDERSON
• 金额: $ 1.78万
• 依托单位: UNIVERSITY OF TEXAS MED BR GALVESTON
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-04-01 至 2009-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7952156
• 关键词: Alcohol consumption; CYP1A2 gene; CYP2E1 gene; Case-Control Studies; Chemicals; Clinical; Clinical Research; Computer Retrieval of Information on Scientific Projects Database; Control Groups; Controlled Study; DNA; Enrollment; Enzymes; Estrogens; Frequencies; Funding; Future; GSTM1 gene; GSTT1 gene; Genetic; Genetic Predisposition to Disease; Grant; HIV; Hepatitis C; Individual; Inherited; Institution; Iron Overload; Lead; Liver; Logistic Regressions; Lymphocyte; Matched Group; Modeling; Patients; Photosensitivity; Porphyria Cutanea Tarda; Predisposition; Relapse; Research; Research Personnel; Resources; Skin; Smoking; Source; United States National Institutes of Health; novel; treatment response

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Porphyria cutanea tarda (PCT) develops in some individuals who are predisposed by certain environmental and inherited susceptibility factors, and is manifested by skin photosensitivity and liver damage. Susceptibility factors include hepatitis C, alcohol use, smoking, iron overload, HIV, estrogens and an inherited partial deficiency of UROD. Why PCT develops in only a few individuals with these susceptibility factors, many of which are relatively common, is not known, and additional influences - most likely additional inherited differences - remain to be identified. We will investigate the novel hypothesis that genetic differences in enzymes that metabolize foreign chemicals may contribute to developing PCT. Aim 1. At least 120 patients with well documented PCT will be enrolled in a case-control study that will include two different groups of matched controls. DNA and lymphocytes will be isolated, and patients and controls studied for specific genetic differences in specific enzymes (e.g.CYP1A1, CYP1A2, CYP2E1, GSTM1 and GSTT1). Aim 2. Associations with clinical features, known susceptibility factors, treatment response and frequency of relapse will be examined using logistic regression models. Aim 3. DNA and lymphocytes from these patients and matched controls, and information regarding clinical features and known susceptibility factors will be stored as a resource for future studies of additional genetic susceptibility factors for PCT. Results will be summarized and analyzed statistically to compare the PCT group with the two control groups. This study and projects which follow will lead to a better understanding of PCT.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 在某些受某些环境和遗传易感性因素易感的个体中，孢子虫cutanea tarda（PCT）发展出来，并由皮肤光敏性和肝脏损害表现出来。 易感因素包括肝炎，酒精使用，吸烟，铁超载，艾滋病毒，雌激素和遗传性局部缺乏。 为什么只有少数具有这些敏感性因素（其中许多相对普遍）的人出现PCT，尚不清楚，而其他影响（很可能是其他遗传差异）仍有待确定。 我们将研究新的假设，即代谢外国化学物质的酶的遗传差异可能有助于发展PCT。 AIM1。至少有120名有据可查的PCT患者将参加一项病例对照研究，其中将包括两种不同的匹配对照组。 DNA和淋巴细胞将分离出来，研究了特定酶（例如CYP1A1，CYP1A2，CYP2E1，GSTM1和GSTM1）的特定遗传差异的患者和对照组。 目标2。将使用逻辑回归模型检查与临床特征，已知敏感性因素，治疗反应和复发频率的关联。 AIM 3。来自这些患者的DNA和淋巴细胞以及匹配的对照组，以及有关临床特征和已知敏感性因子的信息，将作为对PCT的其他遗传敏感性因子的未来研究的资源存储。 结果将汇总和统计分析，以将PCT组与两个对照组进行比较。 这项研究和随后的项目将使人们对PCT有更好的了解。