Genetic Risk Factors for CVA in Children with Hb SS

Hb SS 儿童 CVA 的遗传危险因素

• 批准号: 6464783
• 负责人: Abdullah Kutlar
• 金额: $ 32.29万
• 依托单位: AUGUSTA UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-09-28 至 2005-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6464783
• 关键词: alleles; child (0-11); clinical research; coagulation factor V; disease /disorder proneness /risk; gene deletion mutation; gene environment interaction; gene expression; gene frequency; genetic disorder; genetic polymorphism; genetic screening; genotype; hemoglobin Ss; human genetic material tag; human subject; mass spectrometry; miscellaneous oxidoreductase; pathologic process; peptidyl dipeptidase A; prothrombin; sickle cell anemia; statistics /biometry; stroke; thrombosis; transposon /insertion element

DESCRIPTION (provided by applicant): Sickle cell anemia is a single gene disorder affecting the beta globin chain of human adult hemoglobin. Varying phenotypic expressions of this disease have led to studies of genetic factors contributing to this diversity. Factors that lead to stroke and the development of cerebrovascular disease in children with sickle cell disease are not fully understood. This study will determine if common genetic polymorphisms associated with thrombophilia are important risk factors for the development of cerebrobvascular disease and stroke in these children. The genetic polymorphisms to be studied include MTHFR (methylenetetrahydrofolate reductase) variant (C677T mutation), ACE (angiotensin converting enzyme), ID (insertion/deletion) polymorphism, prothrombin 20210 G to A mutation, and mutations in the Factor V gene (Factor V Leiden, Rsa I polymorphisms; in exon 13 of the factor V gene known as R2 and R3 haplotypes, and Factor V R485K polymorphism). Hb SS patients randomized to the STOP study as well as patients screened in STOP II will provide the basis for this study.

描述(由申请人提供)： 镰状细胞性贫血是一种影响β-珠蛋白链的单基因疾病。 人类成人血红蛋白。这种疾病的不同表型表达 导致了对导致这种多样性的遗传因素的研究。 引起中风的因素与脑血管疾病的发展 患有镰状细胞病的儿童还没有得到充分的了解。这项研究将 确定与血栓形成症相关的常见基因多态是否 脑血管疾病发生和发展的重要危险因素 这些孩子中的中风。待研究的遗传多态包括 亚甲基四氢叶酸还原酶变异体(C677T突变)，ACE (血管紧张素转换酶)、ID(插入/缺失)多态性、 凝血酶原20210 G到A突变和因子V基因突变(因子 V Leiden，Rsa I基因多态性；在因子V基因的外显子13，称为R2和 R3单倍型和因子V R485K多态)。Hb SS患者随机分为 STOP研究以及在STOP II中筛查的患者将提供依据 为了这项研究。