Association between the ABCA1 (R219K) polymorphism and lipid profiles: a meta-analysis

• Published in: Scientific reports Vol. 11; no. 1; pp. 21718 - 10
• Main Authors: Shi, Zhangyan, Tian, Yajie, Zhao, Ze, Wu, Yufei, Hu, Xiuxia, Li, Junlin, Chen, Qianliang, Wang, Yan, An, Caiyan, Zhang, Kejin
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 05.11.2021; Nature Publishing Group; Nature Portfolio
• Subjects: 631/208; 692/53; 692/699; ABCA1 protein; Adenosine triphosphate; ATP; ATP Binding Cassette Transporter 1 - genetics; ATP-binding protein; Cholesterol; CRD; CRD42021231178; Gene polymorphism; Genotypes; Heterogeneity; High density lipoprotein; Humanities and Social Sciences; Humans; Lipids; Lipids - blood; Meta-analysis; multidisciplinary; Polymorphism; Polymorphism, Genetic; Science; Science (multidisciplinary); Triglycerides
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-021-00961-9

Conflicting evidence was found about the relationship between lipid profiles and R219K polymorphism in adenosine triphosphate-binding cassette exporter A1 ( ABCA1 ) gene. In this study, four meta-analyses were conducted to assess the effect of R219K on lipid levels, including high-density lipoprotein cholesterol (HDLC), low-density lipoprotein cholesterol, total cholesterol, and triglycerides (TG). A total of 125 samples of 87 studies (about 60,262 subjects) were included. The effect of each study was expressed using the standard mean difference (SMD) and 95% confidence interval (95% CI) and pooled by meta-analysis in the random-effects model. Subgroup and meta-regression analyses were conducted to explore potential heterogeneity sources. The overall pooled effect showed the following results. (1) The R219K was significantly associated with HDLC level (SMD = − 0.25 mmol/L, 95%CI − 0.32 to − 0.18, z  = − 6.96, P  < 0.01, recessive genetic model). People with different genotypes had significantly different HDLC levels under the recessive, codominant and dominant genetic models (all P s < 0.01). (2) A weak and indeterminate relationship between R219K and TG level was observed (SMD = 0.18 mmol/L, 95%CI 0.06–0.30, z  = 3.01, P  < 0.01, recessive genetic model). These findings suggested that R219K was associated with HDLC and TG levels, which might implicate a promising clinical application for lipid-related disorders, though the influences of race, health status, BMI, and other heterogeneity sources should be considered when interpreting current findings. The protocol was registered at PROSPERO (registration number: CRD42021231178).