Suppr超能文献

伊朗人群中卵磷脂胆固醇酰基转移酶rs5923多态性与极低高密度脂蛋白胆固醇的关联:德黑兰脂质与葡萄糖研究

Association of Lecithin Cholesterol Acyltransferase rs5923 Polymorphism in Iranian Individuals with Extremely Low High-Density Lipoprotein Cholesterol: Tehran Lipid and Glucose Study.

作者信息

Naseri Mohsen, Hedayati Mehdi, Daneshpour Maryam Sadat, Bandarian Fatemeh, Azizi Fereidoun

机构信息

Genomic Research Center, Birjand university of Medical Sciences, Birjand, Iran.

Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

出版信息

Iran Biomed J. 2015;19(3):172-6. doi: 10.7508/ibj.2015.03.007. Epub 2015 Jun 28.

Abstract

BACKGROUND

The serum concentration of high-density lipoprotein cholesterol (HDL-C) is one of the important heritable risk factors for cardiovascular disease and is a target for therapeutic intervention. In this study, we aimed to evaluate the effects of lecithin cholesterol acyltransferase (LCAT) gene polymorphism rs5923 on LCAT enzyme activity and serum HDL-C concentration.

METHODS

The study population was selected from consecutive individuals with HDL-C ≤ 5th percentile (n = 73) and extremely high HDL-C ≥ 95th percentile (n = 57) who had participated in the Tehran Lipid and Glucose Study. The rs5923 polymorphism was genotyped using direct sequencing. LCAT activity was measured by fluorometric assay kit, and lipid concentrations were measured using the enzymatic colorimetric method.

RESULTS

The genotype frequencies were significantly different between the high HDL-C group (CC 94.7%, CT 5.3%) and the low HDL-C group (CC 83.6%, CT 16.4%) (P = 0.048). The T-allele frequencies in subjects with low and high HDL-C were 0.082 and 0.026, respectively (P = 0.16). The association of the single-nucleotide polymorphism rs5923 with low HDL-C was not statistically significant after adjustment for age, sex, and BMI (odd ratio = 2.65, 95% confidence interval = 0.32-21.5, P = 0.36, regression logistic analysis). Also, the effects of LCAT enzyme activity did not depend on the HDL-C level (P = 0.24).

CONCLUSION

rs5923 polymorphism is not associated with low HDL-C levels in Iranian population.

摘要

背景

血清高密度脂蛋白胆固醇(HDL-C)浓度是心血管疾病重要的可遗传危险因素之一,也是治疗干预的靶点。在本研究中,我们旨在评估卵磷脂胆固醇酰基转移酶(LCAT)基因多态性rs5923对LCAT酶活性及血清HDL-C浓度的影响。

方法

研究人群选自参与德黑兰血脂与血糖研究的HDL-C≤第5百分位数的连续个体(n = 73)和HDL-C≥第95百分位数的极高HDL-C个体(n = 57)。采用直接测序法对rs5923多态性进行基因分型。使用荧光检测试剂盒测定LCAT活性,采用酶比色法测定血脂浓度。

结果

高HDL-C组(CC 94.7%,CT 5.3%)与低HDL-C组(CC 83.6%,CT 16.4%)的基因型频率存在显著差异(P = 0.048)。低HDL-C和高HDL-C受试者的T等位基因频率分别为0.082和0.026(P = 0.16)。在对年龄、性别和BMI进行校正后,单核苷酸多态性rs5923与低HDL-C的关联无统计学意义(比值比=2.65,95%置信区间=0.32 - 21.5,P = 0.36,回归逻辑分析)。此外,LCAT酶活性的影响不依赖于HDL-C水平(P = 0.24)。

结论

在伊朗人群中,rs5923多态性与低HDL-C水平无关。

相似文献

2
Effects of lecithin: cholesterol acyltransferase genotypes, enzyme levels, and activity on high-density lipoprotein levels.
J Clin Lipidol. 2011 May-Jun;5(3):152-158. doi: 10.1016/j.jacl.2011.02.008. Epub 2011 Mar 1.
3
Identification of genetic variants of lecithin cholesterol acyltransferase in individuals with high HDL‑C levels.
Mol Med Rep. 2014 Jul;10(1):496-502. doi: 10.3892/mmr.2014.2177. Epub 2014 Apr 24.
8
LCAT, HDL cholesterol and ischemic cardiovascular disease: a Mendelian randomization study of HDL cholesterol in 54,500 individuals.
J Clin Endocrinol Metab. 2012 Feb;97(2):E248-56. doi: 10.1210/jc.2011-1846. Epub 2011 Nov 16.
10
Overexpression of lecithin:cholesterol acyltransferase in transgenic rabbits prevents diet-induced atherosclerosis.
Proc Natl Acad Sci U S A. 1996 Oct 15;93(21):11448-53. doi: 10.1073/pnas.93.21.11448.

引用本文的文献

本文引用的文献

1
The UCSC Genome Browser database: extensions and updates 2013.
Nucleic Acids Res. 2013 Jan;41(Database issue):D64-9. doi: 10.1093/nar/gks1048. Epub 2012 Nov 15.
2
Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease.
Atherosclerosis. 2012 Jun;222(2):299-306. doi: 10.1016/j.atherosclerosis.2011.11.034. Epub 2011 Nov 28.
3
LCAT, HDL cholesterol and ischemic cardiovascular disease: a Mendelian randomization study of HDL cholesterol in 54,500 individuals.
J Clin Endocrinol Metab. 2012 Feb;97(2):E248-56. doi: 10.1210/jc.2011-1846. Epub 2011 Nov 16.
4
Effects of lecithin: cholesterol acyltransferase genotypes, enzyme levels, and activity on high-density lipoprotein levels.
J Clin Lipidol. 2011 May-Jun;5(3):152-158. doi: 10.1016/j.jacl.2011.02.008. Epub 2011 Mar 1.
6
Biological, clinical and population relevance of 95 loci for blood lipids.
Nature. 2010 Aug 5;466(7307):707-13. doi: 10.1038/nature09270.
7
Genetic causes of high and low serum HDL-cholesterol.
J Lipid Res. 2010 Aug;51(8):2032-57. doi: 10.1194/jlr.R004739. Epub 2010 Apr 26.
8
The HDL hypothesis: does high-density lipoprotein protect from atherosclerosis?
J Lipid Res. 2010 Aug;51(8):2058-73. doi: 10.1194/jlr.R001610. Epub 2010 Apr 6.
9
dbSNP in the detail and copy number complexities.
Hum Mutat. 2010 Jan;31(1):2-4. doi: 10.1002/humu.21149.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验