Association of m.5178C>A variant with serum lipid levels: a systematic review and meta-analysis

Area of Science:

• Genetics and Cardiovascular Health
• Mitochondrial DNA Variants
• Lipid Metabolism

Background:

• Emerging evidence suggests the m.5178C>A variant may reduce coronary artery disease (CAD) risk.
• Dyslipidemia is a major CAD risk factor, accounting for over 50% of population-attributable risk.
• The study hypothesizes that the m.5178C>A variant's protective effect against CAD may be mediated by an improved lipid profile.

Purpose of the Study:

• To investigate the association between the m.5178C>A variant and lipid levels.
• To clarify the potential mechanisms linking this mitochondrial DNA variant to CAD risk.
• To analyze the impact of the m.5178C>A variant on high-density lipoprotein cholesterol (HDL-C), total cholesterol (TC), and low-density lipoprotein cholesterol (LDL-C).

Main Methods:

• A systematic literature search was conducted across ten databases.
• Studies published up to June 30, 2021, were included.
• Meta-analysis of thirteen East Asian populations, comprising 7587 individuals, was performed.

Main Results:

• The m.5178C>A variant was significantly associated with higher high-density lipoprotein cholesterol (HDL-C) and total cholesterol (TC) levels.
• Subgroup analysis revealed higher HDL-C levels associated with the variant in both Japanese and Chinese populations.
• A significant association with lower low-density lipoprotein cholesterol (LDL-C) levels was observed specifically in the Japanese population.

Conclusions:

• The m.5178C>A variant is associated with favorable lipid profiles, including higher HDL-C and lower LDL-C, particularly in Japanese populations.
• These lipid alterations may contribute to the reduced CAD risk observed in individuals with the m.5178C>A variant.
• The findings suggest a potential role for this variant in promoting longevity, especially within the Japanese population.