新疆地区维吾尔族、哈萨克族、汉族饮食胆固醇吸收效率的分析与分子机制研究

The balance regulation of cholesterol metabolism is necessary to maintain normal life activities, the cholesterol level is too high or too low on the human body are harmful.Cholesterol metabolism is tightly regulated and controlled within normal concentrations under physiologicalconditions.However,high level of blood cholesterol is a major risk factor for coronary heart disease. Uygur/Kazakh/Han three ethnic populations of the Xinjiang have different genetic backgrounds, dietary habits, customs, cardiovascular and cerebrovascular clinical characteristics, the project aims to determinate the low-density lipoprotein cholesterol (LDL-C) and related lipid level in their blood, estimate the efficiency of dietary cholesterol absorption by measuring the serum Campesterol: Lathosterol ratio, combined with gene sequencing, to reveal the relationship between cholesterol absorption key gene polymorphism (NPC1L1, FlotillinFlotillin-1/-2) and the LDL-C level and cholesterol absorption efficiency, ultimately, using biochemical and molecular biology methods to explore the molecular mechanism of the related gene polymorphisms in population cholesterol absorption process, the physiological function and related diseases, the result of the research can provide a theoretical basis and foundation for the clinical diagnosis and treatment of cardiovascular and cerebrovascular diseases. On the basis of the study, we establish genetic resources of Uygur/Kazakh/Han three ethnic populations in Xinjiang and construct multi-national cardiovascular and cerebrovascular research platform and promote complex diseases study of the minority areas.

胆固醇代谢平衡的严格调控是维持正常生命活动所必需，胆固醇水平过高或过低均对人体有害。正常生理条件下胆固醇代谢是精密调节保持正常水平的，血浆胆固醇水平升高是冠心病的一个主要危险因素。本项目旨在结合新疆地区维、哈、汉三个民族人群不同的遗传背景，饮食风俗习惯和心脑血管发病特征，抽样测定其血液中低密度脂蛋白胆固醇（LDL-C）和相关脂质水平，通过测量血清中Campesterol：Lathosterol的比值估算饮食胆固醇的吸收效率，再结合基因测序，有针对性、有目的地研究NPC1L1，Flotillin-1/-2等胆固醇吸收关键基因的多态性与血液LDL-C水平以及胆固醇吸收效率之间的关系，并最终利用生化和分子生物学手段探究相关基因多态性在人群胆固醇吸收过程中的分子机制，生理功能和在相关疾病发生发展过程的作用，为临床上诊治心脑血管疾病提供理论基础和依据。并藉此研究建立新疆地区维、哈、汉族遗传资源库。

胆固醇代谢平衡的严格调控是维持正常生命活动所必需，胆固醇水平过高或过低均对人体有害。正常生理条件下胆固醇代谢是精密调节保持正常水平的，血浆胆固醇水平升高是冠心病的一个主要危险因素。本项目结合新疆地区维、哈、汉三个民族人群不同的遗传背景，饮食风俗习惯和心脑血管发病特征，抽样测定其血液中低密度脂蛋白胆固醇（LDL-C）和相关脂质水平，通过测量血清中用LDL-C值替代Ca：L比值估算胆固醇的吸收效率，再结合基因高通量测序，有针对性、有目的地研究NPC1L1，Flotillin-1/-2 等胆固醇吸收关键基因的多态性与血液LDL-C 水平以及胆固醇吸收效率之间的关系，并最终利用生化和分子生物学手段探究相关基因多态性在人群胆固醇吸收过程中的分子机制，生理功能和在相关疾病发生发展过程的作用，为临床上诊治心脑血管疾病提供理论基础和依据。并藉此研究建立了新疆地区维、哈、汉族遗传资源库。发表研究成果6篇（SCI论文5篇），专利2项，培养学生9人，圆满完成各项考察指标。