
Frequent LPA KIV-2 Variants Lower Lipoprotein(a) Concentrations …
Up to 70% of the LPA coding sequence is located in the hypervariable kringle IV type 2 (KIV-2) region. It is hardly accessible by conventional technologies, but may contain functional variants. This study sought to investigate the new, very frequent splicing variant KIV-2 …
A novel but frequent variant in LPA KIV-2 is associated with a ...
2017年6月6日 · Since up to 70% of the LPA coding sequence are located in a difficult to access hypervariable copy number variation named KIV-2, we hypothesized that it may contain novel functional variants with pronounced effects on Lp (a) concentrations. We performed a large scale mutation analysis in the KIV-2 using an extreme phenotype approach.
Identification of allele-specific KIV-2 repeats and impact on Lp(a ...
2024年10月24日 · The abundance of Lp(a) protein holds significant implications for the risk of cardiovascular disease (CVD), which is directly impacted by the copy number (CN) of KIV-2, a 5.5 kbp sub-region. KIV-2 is highly polymorphic in the population and accurate analysis is challenging.
Sequence Variation within the KIV-2 Copy Number Polymorphism …
The KIV-2 domain (red) varies in number from 1 to >40 copies, thereby forming the KIV-2 CNV. Each KIV-2 repeat is approximately 5.5 kb long, composed of the first exon (160 bp), a long intron (4 kb), the second exon (182 bp), and a short intron (1.2 kb).
JACC:LPA KIV-2突变降低了脂蛋白(a)的浓度并降低冠状动脉疾病的发生…
2021年7月31日 · 高达70%的LPA编码序列位于高变异的kringle IV型(KIV-2)区域。 传统的技术很难进入该区域,但可能包含功能变异。 为此,来自因斯布鲁克医科大学遗传流行病学研究所试图研究新的、非常频繁的剪接变体KIV-2 4733G>A对Lp(a)和CAD的影响,结果发表在JACC杂志上。
具有独特分子标识符的纳米孔测序能够对复杂的脂蛋白(a) KIV-2 …
蛋白质编码 LPA kringle IV 2 型 (KIV 2) VNTR(每单位 5.6 kb,每个等位基因 1-40 单位)是医学上高度相关的示例,具有特别复杂的结构、多种单倍型、基因内同源性和 VNTR STR 内。
Low LPA gene kringle IV-2 repeat copy number association with
2018年5月10日 · This study explored the correlation of Lp(a) mass or particle concentration with KIV-2 repeat copy number and application for coronary atherosclerotic heart disease (CAHD) risk assessment. Methods: A cross-sectional study including 884 subjects was conducted.
Frequent LPA KIV-2 Variants Lower Lipoprotein(a ... - PubMed
2021年8月3日 · Up to 70% of the LPA coding sequence is located in the hypervariable kringle IV type 2 (KIV-2) region. It is hardly accessible by conventional technologies, but may contain functional variants. Objectives: This study sought to investigate the new, very frequent splicing variant KIV-2 4733G>A on Lp(a) and CAD.
KIV-2拷贝数及Apo(a)颗粒大小与2型糖尿病和冠心病的相关性研究
目的探讨Kringle结构IV型-2亚型结构(KIV-2)拷贝数及载脂蛋白a[Apo(a)]颗粒大小与2型糖尿病和冠心病的相关性.方法回顾性选取2019年6月至2020年6月于复旦大学附属中山医院青浦分院就诊的180例体检者为研究对象,对临床资料进行收集和分析后将其分为3组:正常对照组 ...
常见LPA KIV-2基因突变可降低脂蛋白 (a)浓度并预防冠状动脉疾病
研究发现,高达70%的LPA编码序列位于高变异的kringle Ⅳ 2型区域(KIV-2)。为研究KIV-2 4733 G>A剪接突变对Lp(a)和CAD的影响,澳大利亚因斯布鲁克医科大学的Schachtl-Riess教授等通过等位基因特异性聚合酶链反应(PCR)对德国慢性肾脏病研究中的4 673例患者的4733 G>A进行基因分 ...