Association between abca1 gene polymorphisms and plasma lipid concentration: A systematic review and meta-analysis

Sun Young Shim, Ha Young Yoon, Jeong Yee, Ji Min Han, Hye Sun Gwak

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations


Background: Although ABCA1 gene polymorphisms may be associated with the plasma lipid concentration, the literature has not shown a consistent pattern. In this study, we attempted to elucidate the association between the ABCA1 69C>T, 825V>I, and 230R>C polymorphisms and the plasma lipid concentration through a systematic review and meta-analysis. Methods: We selected studies published up to October 2020 in the PubMed, Web of Science, and Embase databases according to inclusion and exclusion criteria. The mean difference (MD) and 95% confidence interval (CI) were used to assess the relationship between the presence of ABCA1 69C>T, 825V>I, and 230R>C and plasma lipid levels. Meta-analysis was performed using Review Manager (version 5.3). Both Begg’s test and Egger’s regression test of the funnel plot were performed using R Studio software (version 3.6.0) to identify publication bias. Results: We analyzed the data on the ABCA1 69C>T polymorphism involving 14,843 subjects in 11 studies, 825V>I polymorphism involving 2580 subjects in 5 studies, and 230R>C polymorphism involving 4834 subjects in 4 studies. The T allele carriers in 69C>T, II carriers in 825V>I, and C carriers in 230R>C had lower high-density lipoprotein cholesterol levels; the MD (95% CI) was −0.05 mmol/L (95% CI: −0.09 to −0.01, p = 0.02), −0.05 mmol/L (95% CI: −0.09 to −0.00, p = 0.03), and −0.1 mmol/mL (95% CI: −0.12 to −0.07 mmol/L, p < 0.00001), respectively. In the case of 230R>C, the serum total cholesterol concentration of C carriers was significantly lower than that of RR carriers (−0.2 mmol/L, 95% CI: −0.3 to −0.11, p < 0.0001). Conclusion: This meta-analysis demonstrates that the ABCA1 69C>T, 825V>I, and 230R>C polymorphisms could affect the plasma lipid concentration. As the plasma lipid concentration may be related to various diseases, ABCA1 genotyping could be useful for the management of lipid levels.

Original languageEnglish
Article number883
JournalJournal of Personalized Medicine
Issue number9
StatePublished - Sep 2021

Bibliographical note

Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.


  • 230R>C
  • 69C>T
  • 825V>I
  • ABCA1
  • Lipid


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