ABCA1 (ATP-binding cassette sub-family A (ABC1) member 1) is one of the most important cellular cholesterol transporters in charge of removing cholesterol from the body through cholesterol efflux. Mutations of this gene have been associated with high-density-lipoprotein (HDL) deficiency, Tangier disease and familial hypoalphalipoproteinemia.
In Chinese overweight and obese patients, the expression of ABCA1 in monocytes was found to be significantly reduced (Xu et al., 2009). This reduction was related to the dysfunction of cholesterol efflux from monocyte-derived macrophages.
In the Mexican population, a nonsynonymous variant R230C in the ABCA1 coding sequence was found in people with decreased HDL cholesterol (Villarreal-Molina et al., 2007). However, this variant was not found in individuals with high-HDL cholesterol. In addition, this variant may be associated with obesity, apolipoprotein A-I levels, the metabolic syndrome, and type 2 diabetes.
In overweight/obese Thai males, those with the mutant allele of R219K in the ABCA1 were found to have lower level of HDL than normal people (Kitjaroentham and Hananantachai, 2007). This is a common polymorphism in Thai ethnic groups. Such findings suggest the possible role of this gene in obesity.
In Japanese individuals, the 2677G –> A/T polymorphism (rs2032582) of the ATP-binding cassette, subfamily B, member 1 gene (ABCB1) was found to be associated with obesity (Ichihara et al., 2008). The ABCB1 genotype may be considered for assessment of genetic risk of obesity.
References:
Ichihara, S., Yamada, Y., et al. (2008) Association of a polymorphism of ABCB1 with obesity in Japanese individuals. Genomics 91, 512-516.
Kitjaroentham, A., Hananantachai, H., et al. (2007) R219K polymorphism of ATP binding cassette transporter A1 related with low HDL in overweight/obese Thai males. Arch Med Res 38, 834-838.
Villarreal-Molina, M. T., Aguilar-Salinas, C. A., et al. (2007) The ATP-binding cassette transporter A1 R230C variant affects HDL cholesterol levels and BMI in the Mexican population: association with obesity and obesity-related comorbidities. Diabetes 56, 1881-1887.
Xu, M., Zhou, H., et al. (2009) The expression of ATP-binding cassette transporter A1 in Chinese overweight and obese patients. Int J Obes (Lond) 33, 851-856.
