Objective To explore the distributional characteristics of Apolipoprotein A5 (ApoA5) Gene –1131 T > C Polymorphism and the influence of serum lipid in Chinese Han and Uighur population of Xinjiang.

Methods 416 Uighur and 525 Han persons were detected the genotypes of the ApoA5 Gene –1131 T > C Polymorphism by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).

Results The frequencies of TT, TC and CC genotype of ApoA5 gene –1131 T > C were 35.1%, 53.7% and 11.2% in Uighur group while same genotypes were 43.7%, 46.3% and 10% in Han group. There was not statistics difference in distribution of genotypes between these two groups (P > 0.05). In the two groups individuals carried C allele (TC+CC genotype) had higher level of serum triglyceride than those carried TT genotype. No-condition Logistic regression analyses adjusted for age, gender, smoking, dringking, BMI and serum total cholesterol, revealed that individuals in the two groups who carried C allele had an increased risk of HTG compared with TT genotype (OR = 2.81, 95%CI: 1.54 ∼ 5.35 in Uighur group; OR = 3.18, 95%CI: 1.81 ∼ 5.74 in han group).

Conclusions The mutational frequencies of the –1131 T > C polymorphism of ApoA5 gene in Uighur population were not statistics difference with Han. The polymorphism may be associated with level of serum triglyceride in Uighur and Han population of Xinjiang and T allele might be a risk factor of hypertriglyceridemia.