Association of the CYP26A1 rs2068888 polymorphism and serum lipid traits in the Chinese Maonan and Han populations

The cytochrome P450 protein plays an important role in the synthesis of cholesterol and other lipid parameters. But little is known about the association of the single nucleotide polymorphism (SNP) of rs2068888 near cytochrome P450 26A1 gene ( ) and serum lipid profiles in the Chinese Maonan and Han populations. This study explored such association in the two populations. Genotyping of the rs2068888 SNP was performed in 833 unrelated individuals of Maonan and 701 participants of Han by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and confirmed by direct sequencing. The genotypic and allelic frequencies of the rs2068888 SNP were significantly different between the Maonan and Han. The frequencies of AA, AG and GG genotypes were 75.51%, 23.41% and 1.08% in the Maonan population, and 64.62%, 33.10% and 2.28% in the Han population ( < 0.001). The frequency of the G allele was 12.78% in Maonan and 18.83% in Han ( < 0.001). The level of serum total cholesterol (TC) was lower in Maonan than in Han. The G allele carriers had higher serum TC level in Maonan than the G allele non-carriers. Subgroup analyses indicated that the G allele carriers had higher serum TC level in Maonan females. Serum lipid parameters in the two ethnic groups were also associated with several environmental factors. These findings revealed that there may be a racial/ethnic- and/or sex-specific association between the rs2068888 SNP and serum lipid parameters in some populations.