Objective To investigate the association between the polymorphism of codon-54 of the fatty acid binding protein 2 (FABP2) gene and patients with type 2 diabetes, and how to infect metabolism of lipoprotein. Methods The Ala54Thr variation of FABP2 was detected by PCR and Hae-Ⅱ digestion in 225 Chinese subjects, including 117 cases of type 2 diabetes mellitus and 108 cases of normal controls. All cases were detected for fasting plasma lipoprotein. Results (1)The polymorphism restriction site of codon-54 of FABP2 gene results in the substitution of threonine(Thr) for alanine(Ala). Of the 117 diabetic patients screened, 64 (54.7%) were heterozygous, 32 (27.4%) were homozygous for Ala-54 allele and 21 (17.9%) were homozygous for the Thr-54 allele. (2)The frequence of genotype Ala54/Thr54 and Thr54/Thr54 significiantly increased in the type 2 diabetes as compared with that in healthy subjects (P:0.018).(3)The odds ratio of FABP2 genotype Ala54/Thr54 and Thr54/Thr54 for the patients with type 2 diabetes was 1.97(95% confidence intervals is 1.13-3.44). (4)The frequency of the FABP2 mutant thr54 allele was similar in men and women (33.3% and 32.0%, respectively, P=0.675). (5)The patients with type 2 diabetes who carry Ala54/Thr54 and Thr54/Thr54 genotype had a significantly higher level of fasting plasma triglyceride (P=0.003) and lower level of high density lipoprotein cholesterol (HDL-C) (P=0.001)than those with the wild-type. Conclusions (1)FABP2 gene polymorphism seems to be significantly associated with type 2 diabetes; the codon-54 of mutant genotypic frequencies were in Hardy-Weinberg equilibrium. (2)The FABP2 ala54thr polymorphism appears to have no significant difference in men and women. (3)FABP2 polymorphism may have a certain contribution to the abnormity of lipoprotein metabolism in individuals.
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