Association Of +292C/G Mutation At Promoter Of Human Urate Transporter 1 Gene And Primary Hyperuricemia

Objective To investigate the association between +292C/G mutation at promoter of human urate transporter 1(hURAT1) gene and primary hyperuricemia.Methods 217 patients with primary hyperuricemia(169 male and 48 female) were recruited as the test group.The control group contained 491 subjects(356male and 135 female) without hyperuricemia and other major diseases(including heart disease, hepatopathy,renal inadequacy and systemic diseases).The fast blood samples were collected at morning for the measurement of triglyceride(TG),total cholesterol(TC), fasting plasma glucose(FPG),urea nitrogen(BUN),creatinine(Cr),serum uric acid(UA) and other biochemical indices.At the same time,the DNA samples were extracted from periphery blood.The promoter region of hURAT1 gene was amplified with polymerase chain reaction(PCR) and sequenced to screen the +292C/G mutation.The genotype distribution was calculated and allele frequency was analysed. Measurement data between groups were compared with t test and numeration data with Fisher's exact test.Results(1)The UA of the test group was significantly higher than that of the control group(523.87±121.69 vs 281.76±73.82μmol/L,P＜0.001).Meanwhile,TG(2.53±0.84 vs 1.09±0.25mmol/L,P＜0.001),TC(4.98±1.31 vs 4.62±0.78mmol/L, P=0.033),BUN(5.91±1.66 vs 5.12±1.11mmol/L,P＜0.001) and Cr(88.25±25.16 vs 77.61±17.97μmol/L,P=0.002) were all higher in the test group.There was no significantly difference of FPG between the two groups(4.89±0.58 vs 4.88±0.56mmol/L,P＞0.05).(2) The frequencies of the CG genotype(2.30%vs 0.41 %,P=0.031) and G allele(1.15%vs 0.20%,P=0.031) at promoter of hURAT1 gene were significantly higher in the test group.(3) The levels of UA(460.71±75.58 vs 319.05±121.89μmol/L,P=0.002) and TG(2.93±1.75 vs 1.30±0.52mmol/L, P＜0.001) in the persons with CG genotype were significantly higher than those in the persons with CC genotype.The two groups had no significant difference in the levels of TC(4.88±1.44 vs 4.67±0.88mmol/L,P＞0.05),FPG(5.16±0.97 vs 4.87±0.55mmol/L,P＞0.05),BUN(5.22±0.95 vs 5.25±1.26mmol/L,P＞0.05) and Cr(86.57±21.16 vs 79.23±19.67μmol/L,P＞0.05).Conclusions(1)The +292C/G mutation at promoter of hURAT1 gene is related to primary hyperuricemia.(2)The +292C/G mutation at promoter of hURAT1 gene is related to TG metabolism.