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Background  Several common genetic polymorphisms in the low density lipoprotein receptor (LDL-R) gene have associated with modifications of serum total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) levels, but the results are not consistent in different populations. Bai Ku Yao is a special subgroup of the Yao minority in China. The present study was undertaken to detect the association of LDL-R gene  Ava  Ⅱ polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.    Methods  A total of 1024 subjects of Bai Ku Yao and 792 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of the LDL-R gene  Ava  Ⅱ polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.    Results  The levels of serum TC, high density lipoprotein cholesterol (HDL-C), LDL-C, apolipoprotein (Apo) A1 and the ratio of ApoA1 to ApoB were lower in Bai Ku Yao than in Han ( P  < 0.01 for all). The frequency of A -  and A +  alleles was 65.5% and 34.5% in Bai Ku Yao, and 80.7% and 19.3% in Han ( P  < 0.001); respectively. The frequency of A - A - , A - A +  and A + A +  genotypes was 42.6%, 45.9% and 11.5% in Bai Ku Yao, and 64.9%, 31.6% and 3.5% in Han ( P  < 0.001); respectively. There was also significant difference in the genotypic frequencies between males and females in Bai Ku Yao ( P  <0.05), and in the genotypic and allelic frequencies between normal LDL-C (≤ 3.20 mmol/L) and high LDL-C (>3.20 mmol/L) subgroups in Bai Ku Yao ( P  < 0.05 for each) and between males and females in Han ( P  < 0.05 for each). The levels of LDL-C in males and TC and HDL-C in females were different among the three genotypes ( P  < 0.05 for all) in Bai Ku Yao, whereas the levels of HDL-C in males and HDL-C and ApoA1 in females were different among the three genotypes ( P  < 0.05-0.001) in Han. The subjects with A + A +  genotype had higher serum LDL-C, TC, HDL-C or ApoA1 levels than the subjects with A - A +  and A - A -  genotypes. Spearman rank correlation analysis revealed that the levels of LDL-C in Bai Ku Yao and HDL-C in Han were correlated with genotypes ( P  < 0.05 and  P  < 0.01; respectively).    Conclusions  The association of LDL-R gene  Ava  Ⅱ polymorphism and serum lipid levels is different between the Bai Ku Yao and Han populations. The discrepancy might partly result from different LDL-R gene  Ava  Ⅱ polymorphism or LDL-R gene-enviromental interactions.

Low density lipoprotein receptor gene Ava II polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations