1.A genetic polymorphism in GCKR may be associated with low high-density lipoprotein cholesterol phenotype among Filipinos: A case-control study.
Rody G. Sy ; Jose B. Nevado, Jr. ; Eddieson M. Gonzales ; Adrian John P. Bejarin ; Aimee Yvonne Criselle L. Aman ; Elmer Jasper B. Llanes ; Jose Donato A. Magno ; Deborah Ignacia D. Ona ; Felix Eduardo R. Punzalan ; Paul Ferdinand M. Reganit ; Lourdes Ella G. Santos ; Richard Henry P. Tiongco II ; Jaime Alfonso M. Aherrera ; Lauro L. Abrahan IV ; Charlene F. Agustin ; Eva Maria C. Cutiongco - de la Paz
Acta Medica Philippina 2022;56(10):49-56
Background. Low levels of high-density lipoprotein cholesterol (HDL-c) is a well-recognized risk factor in the development of cardiovascular diseases. Associated gene variants for low HDL-c have already been demonstrated in various populations. Such associations have yet to be established among Filipinos who reportedly have a much higher prevalence of low HDL-c levels compared to other races.
Objective. To determine the association of selected genetic variants and clinical factors with low HDL-c phenotype in Filipinos.
Methods. An age- and sex-matched case-control study was conducted among adult Filipino participants with serum HDL-c concentration less than 35 mg/dL (n=61) and those with HDL-c levels of more than 40 mg/dL (n=116). Genotyping was done using DNA obtained from blood samples. Candidate variants were correlated with the low HDL-c phenotype using chi-squared test and conditional logistic regression analysis.
Results. Twelve single nucleotide polymorphisms (SNPs) were associated with low HDL-c phenotype among Filipinos with univariate regression analysis. The variant rs1260326 of glucokinase regulator (GCKR) (CT genotype: adjusted OR=5.17; p-value=0.007; TT genotype: adjusted OR=6.28; p-value=0.027) remained associated with low HDL-c phenotype, together with hypertension and elevated body mass index, after multiple regression analysis.
Conclusion. The variant rs1260326 near GCKR is associated with low HDL-c phenotype among Filipinos. Its role in the expression of low HDL-c phenotype should be further investigated prior to the development of possible clinical applications.
Cardiovascular Diseases ; Dyslipidemias ; Genetics ; Polymorphism, Single Nucleotide
4.Research Progress of Exosomal microRNA in Cardiovascular Disease and Its Forensic Application Prospects.
Xiao-Nan MA ; Lu LU ; Yan-Tong HUANG ; Chang-Qian CEN ; Feng-Yuan SU ; Yi SHI ; Zhi-Peng CAO
Journal of Forensic Medicine 2022;38(2):258-262
Exosomal microRNAs (miRNAs) are miRNAs that are mediated by exosomes to achieve cell-to-cell communication, and they are widespread in organisms. In recent years, the key role of the multiple biological functions of exosomal miRNAs in the occurrence and development of cardiovascular diseases has been confirmed by a large number of studies, which has become a hot spot in clinical and basic research. Sudden cardiac death caused by cardiovascular disease is one of the important contents in forensic medical identification. This article introduces the research progress of cardiovascular disease prediction, treatment and prognosis on exosomal miRNA. The prospects of the application in forensic medical identification are discussed.
Cardiovascular Diseases/genetics*
;
Exosomes/genetics*
;
Humans
;
MicroRNAs/genetics*
5.Association of
Yuexi WANG ; Xiaohong DU ; Ruifen ZHAO ; Juan NIU ; Haixu WANG ; Jing LI
Annals of the Academy of Medicine, Singapore 2021;50(6):474-480
INTRODUCTION:
The apolipoprotein E (
METHODS:
We classified the
RESULTS:
The baseline serum levels of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) were significantly lower in carriers of
CONCLUSION
Polymorphism in the
Apolipoproteins E/genetics*
;
Atherosclerosis/genetics*
;
Cardiovascular Diseases
;
Genotype
;
Humans
;
Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use*
;
Lipids
6.Research Progress of Non-coding RNA in Multiple Myeloma with Heart Disease---Review.
Man-Ya YU ; Su-Mei LI ; Xing CUI
Journal of Experimental Hematology 2021;29(5):1680-1684
Some non-coding RNAs (ncRNA), as functional RNA molecules, lack potential to encode proteins, but can affect gene expression and disease progression through a variety of mechanisms. In multiple myeloma (MM), cardiovascular disease is one of the most common complications, which may be related to a variety of factors, including patient's own factors, disease-related factors, drug factors, etc. Non-coding RNA is considered to be an important regulator of cardiovascular event risk factors and cell function, and an important candidate target for improving the condition and prognostic assessment. This article briefly summarized the role of non-coding RNA in cardiac amyloidosis caused by MM, damage to the heart by inflammatory factors, and heart disease caused by chemotherapy drugs in recent years.
Cardiovascular Diseases
;
Heart Diseases
;
Humans
;
Multiple Myeloma/genetics*
;
Prognosis
;
RNA, Untranslated/genetics*
9.Genetic study of cardiovascular disease subtypes defined by International Classification of Diseases.
Zi Ning GUO ; Zhi Sheng LIANG ; Yi ZHOU ; Na ZHANG ; Jie HUANG
Journal of Peking University(Health Sciences) 2021;53(3):453-459
OBJECTIVE:
To study the molecular connection among cardiovascular diseases (CVD) subtypes defined by the International Classification of Diseases (ICD) version 10 (ICD-10).
METHODS:
Both phenotypic data and genotypic data used in this study were obtained from the UK Biobank. A total of 380 083 participants aged between 40 and 69 years were included. Those without any cardiovascular disease (either no ICD-10 code at all or no ICD-10 code containing letter I) were assigned to the control group. The five CVD subtypes were: ischaemic heart diseases (IHD), pulmonary heart disease and diseases of pulmonary circulation (PHD), cerebrovascular diseases (CRB), diseases of arteries, arterioles and capillaries (AAC), diseases of veins, lymphatic vessels and lymph nodes, and diseases not elsewhere classified (VLL). We first performed a genome-wide association study (GWAS) for each of the five subtypes. We summarized novel loci using genome-wide significance threshold P=5×10-8. Next, we used linkage disequilibrium score regression (LDSC) method to assess genetic correlation among the five subtypes. Lastly, we applied mendelian randomization (MR) approach to assess the causal relationship among the subtypes. The particular software that we used was generalised summary-data-based mendelian randomisation (GSMR).
RESULTS:
Through GWAS, we identified hundreds of genome-wide significant SNPs: 672 for IHD, 241 for PHD, 31 for CRB, 48 for AAC, and 193 for VLL. By comparing with published literature, we found 28 novel loci, for PHD (n=14), CRB (n =7) and AAC (n =7). Eight of these 28 loci were rare, where the lead SNP had minor allele frequency (MAF) less than 1%. LDSC analyses indicated IHD had significant genetic correlation with VLL (P=2.52×10-7), PHD (P=3.77×10-3) and AAC (P=4.90×10-3), respectively. Bidrectional GSMR analyses showed that IHD had a positive causal relationship with VLL (P=7.40×10-5) and AAC (P=1.50×10-3), while reverse causality was not supported.
CONCLUSION
This study adopted an innovative approach to study the molecular connection among CVD subtypes that are defined by ICD. We identified potentially positive genetic correlation and causal effects among some of these subtypes. Research along this line will provide scientific insights and serve as a guidance for future ICD standards.
Adult
;
Aged
;
Cardiovascular Diseases/genetics*
;
Genome-Wide Association Study
;
Humans
;
International Classification of Diseases
;
Mendelian Randomization Analysis
;
Middle Aged
;
Polymorphism, Single Nucleotide


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