Related Experiment Video
Updated: Aug 26, 2026

Quantification of Atherosclerosis in Mice
Published on: June 12, 2019
Gender and ethnic differences in a case-control study of dyslipidemia: using the apolipoprotein A-V gene as an
Shu-Fen Wung1, Bradley E Aouizerat
1College of Nursing, University of Arizona, Tucson 85721-0203, USA. shufen@nursing.arizona.edu
Insights
Genetic variations in the apolipoprotein A-V gene influence lipid levels and cardiovascular disease risk. These genetic factors show significant differences across ethnicities and genders, particularly impacting triglyceride levels in Asian women.
Area of Science:
- Genetics
- Cardiovascular Disease
- Biochemistry
Background:
- Coronary heart disease (CHD) exhibits population-specific differences and is influenced by gender.
- Apolipoproteins are key factors in distinguishing individuals with CHD.
- Apolipoprotein A-V (APOA-V) gene variations are linked to plasma lipids and CHD risk.
Purpose of the Study:
- To investigate the association between APOA-V gene polymorphisms and lipoprotein profiles.
- To examine gender and ethnic disparities in the APOA-V T-1131C promoter polymorphism in dyslipidemia patients and controls.
Main Methods:
- Interdisciplinary genetic research project.
- Analysis of APOA-V gene promoter polymorphisms (T-1131C).
- Comparison of genotype frequencies and lipid profiles between ethnic groups and genders.
Main Results:
- The minor -1131C allele of APOA-V was associated with elevated plasma triglycerides (TG) and various lipoprotein cholesterols.
- The C allele was significantly more frequent in Asians compared to Europeans.
- Significant differences in genotype frequency were observed between genders within Asian and European populations, with Asian women carrying the C allele showing a marked increase in TG.
Conclusions:
- Ethnic-specific and gender-based variations exist in the frequency of the APOA-V -1131C promoter polymorphism.
- These genetic differences may contribute to disparities in cardiovascular disease development.
- Understanding these variations can enhance the comprehension of cardiovascular disease etiology.
Abstract:
Common, complex genetic disorders such as coronary heart disease (CHD) frequently show large population differences, contributing to health disparities. It is also well known that CHD risk factor profiles and the frequency of coronary events differ by gender. Study of premature CHD has revealed that apolipoproteins are important discriminating factors for distinguishing individuals with CHD. Recent findings indicated that apolipoprotein A-V (APOA-V) gene promoter polymorphisms are an important determinant of plasma triglycerides (TG) and lipoprotein cholesterol, and a risk factor for CHD. Variations in APOA-V may have varying impacts in different ethnic groups. The purpose of this interdisciplinary genetic research project was to determine (1) the association of the APOA-V polymorphisms with lipoprotein profiles, and (2) the gender and ethnic differences in the T-1131C promoter polymorphism of the APOA-V gene in individuals with dyslipidemia versus controls. Results indicate that the minor -1131C allele (CC homozygotes + CT heterozygotes) was associated with elevated plasma TG (p = 0.007), very low density lipoprotein (VLDL)-TG (p = 0.019), LDL-TG (p = 0.004), high-density-lipoprotein (HDL)-TG (p < 0.001), and VLDL-cholesterol (p = 0.008). We found a striking elevation in the frequency of the minor C allele in Asians (p < 0.001) compared to Europeans. We also found a significant difference in genotype frequency between men and women in Asians (p = 0.031) and Europeans (p < 0.01). Remarkably, Asian women with the C allele have a 36% increase in TG compared to Asian women homozygous for the T allele. In summary, we found significant ethnic-specific and gender-based differences in the frequency of the minor allele of the -1131 APOA-V gene promoter polymorphism. Identification of genetic variations among ethnic groups and between genders may have significant potential for a better understanding of the development of cardiovascular disease.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic Variation
Genes exist in different versions called alleles, which...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
