Genetic polymorphism of thrombin-activatable fibrinolysis inhibitor (TAFI) associated with type 2 diabetes mellitus.

Objective To investigate the possible association of the TAFI activity-related two polymorphisms(505A/G,1040C/T) with type 2 diabetes mellitus(T2DM).Methods Frequencies of the 505A/G and 1 040C/T polymorphisms resulted in two amino acid substitutions: Ala for Thr at position 147 and Ile for Thr at position 325 in 157 T2DM patients and 140 healthy controls by using the polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) typing analysis method.Results No significant differences of the TAFI levels appeared between patients and controls at 505A/G.At 1040C/T,frequency for the T allele in the patient group was significantly lower than that in the control group(15.6% versus 25.7%,P0.05),which was due to the relative decrease of T/T homozygotes in the patient group(P0.05,95% OR 0.28,CI 0.11-0.70).The same pattern of significance was also observed between controls and subgroups of patients with initial stages of T2DM categorized by the urine albumin excretion(UAE μg/mL)-to-creatinine(mg/mL) ratios(ACRs).Conclusion ① At 1 040C/T the frequency for the T allele is strongly associated with T2DM in a subset of the general population.② The T allele confers protection against the onset of T2DM only in homozygosity and may serve as a recessive trait.