Scarb1, encoding scavenger receptor class B type 1 (SR-B1), is a lipoprotein receptor. SR-B1 binds to high-density lipoprotein (HDL) and low-density lipoprotein (LDL), and is also a receptor for lipoprotein (a) (Lp(a)). It plays a crucial role in lipid metabolism, mediating the cellular uptake of cholesterol and promoting the clearance of Lp(a) [3]. Genetic association studies of Scarb1 contribute to understanding its function in vivo [1].

Candidate gene studies have identified Scarb1 as significantly associated with high HDL-C and increased myocardial infarction (MI) risk, indicating its role in cardiovascular-related conditions [1]. A meta-analysis of the rs5888 polymorphism of Scarb1 suggested a negative association with coronary heart disease (CHD), especially in males [2]. Functional studies of Scarb1 variants showed decreased receptor function in vitro, and these variants are associated with a new lipid phenotype of high HDL-cholesterol and high Lp(a) [3]. Also, Scarb1 rs5888 is associated with the risk of age-related macular degeneration susceptibility and an impaired macular area [4].

In summary, Scarb1 is essential in lipid metabolism, with its variants and polymorphisms having associations with various diseases, especially cardiovascular and age-related macular degeneration. Studies on Scarb1 contribute to understanding the molecular mechanisms underlying these diseases, potentially providing new directions for prevention and treatment.

References:

1. Rodriguez, Annabelle. 2021. High HDL-Cholesterol Paradox: SCARB1-LAG3-HDL Axis. In Current atherosclerosis reports, 23, 5. doi:10.1007/s11883-020-00902-3. https://pubmed.ncbi.nlm.nih.gov/33398433/

2. Ma, Ruchao, Zhu, Xiaoyun, Yan, Bo. 2018. SCARB1 rs5888 gene polymorphisms in coronary heart disease: A systematic review and a meta-analysis. In Gene, 678, 280-287. doi:10.1016/j.gene.2018.08.024. https://pubmed.ncbi.nlm.nih.gov/30103009/

3. Yang, Xiaoping, Sethi, Amar, Yanek, Lisa R, Remaley, Alan T, Becker, Lewis C. 2016. SCARB1 Gene Variants Are Associated With the Phenotype of Combined High High-Density Lipoprotein Cholesterol and High Lipoprotein (a). In Circulation. Cardiovascular genetics, 9, 408-418. doi:. https://pubmed.ncbi.nlm.nih.gov/27651445/

4. Stanislovaitiene, Daiva, Zaliuniene, Dalia, Krisciukaitis, Algimantas, Tamosiunas, Abdonas, Lesauskaite, Vaiva. 2016. SCARB1 rs5888 is associated with the risk of age-related macular degeneration susceptibility and an impaired macular area. In Ophthalmic genetics, 38, 233-237. doi:10.1080/13816810.2016.1203442. https://pubmed.ncbi.nlm.nih.gov/27428740/