本研究利用病例對照研究法探討痛風與尿酸傳送子1 (human urate transporter 1,hURAT1)基因之C258T及C426T單一核苷酸基因多型性、環境因子，及痛風患者初次疼痛發作年齡與其相關因子之關係。研究對象為參與95年度『台中縣和平鄉長期痛風管理照護系統』的痛風患者112名，並以參加成人健康檢查的無痛風民眾作為對照組(71名)，其中原住民族群佔48%，非原住民佔52%。將所蒐集的血液樣本進行相關的生化值檢測，及以聚合酶鏈鎖反應-限制片段長度基因多型性試驗(PCR-RFLP assay)進行尿酸傳送子1基因中Exon1的C258T以及Exon2內的C426T兩種單一核苷酸基因多型性(single nucleotide polymorphsim，SNP)分析。
結果顯示痛風患者中男性及單身的比例較高，並達統計上顯著意義。而調整性別、年齡後，原住民痛風患者的尿酸值平均為9.1mg/dL，較非原住民7.1mg/dL高。另外，在調整年齡、性別與種族的效應後，痛風患者相較於對照組有顯著較高的尿酸(8.2 vs. 5.8 mg/dl)、肌酸酐濃度(1.1 vs.0.9 mg/dl);並且有較高的高血壓(35.7% vs.2.8 %)及高血脂症(15.2% vs. 0.0 %)的比例。hURAT1基因之C258T和C426T基因型與痛風發生具有顯著相關，藉由多變量邏輯斯迴歸分析顯示， 258 T對偶基因攜帶者(CT/TT)對於痛風發生具有顯著保護作用(OR=0.21，95%CI:0.07-0.60)，而SNP C426T之T對偶基因同質型者(TT型)比426 C對偶基因攜帶者(CC/CT)罹患痛風的勝算比為3.70(95%CI:1.31-10.43)。
曾有過疼痛發作之痛風患者有顯著較高的平均尿酸(8.6 vs. 7.2 mg/dl)與三酸甘油酯(187.2 vs. 130.0 mg/dl)表現量。以事件史分析方法中的log rank檢定探討初次發作之年齡分布，發現性別、年齡、種族、飲酒習慣及高血壓等因素與發作年齡有顯著之相關性。進ㄧ步地，Cox氏之正比例涉險模式(Cox’s proportional hazards model)顯示，經調整干擾效應後，原住民比非原住民具有較高的相對風險產生疼痛發作(HR=2.42，95% CI: 1.47-3.98)。
本研究發現hURAT1基因之C258T與C426T 單一核苷酸基因多型性，可作為痛風的基因易感受性標誌。而男性、原住民其痛風疼痛發作年齡將會提早。
A case-control study was conducted to investigate the association between gout and single-nucleotide polymorphisms of hUART1 gene and environmental factors, the relationship of age onset of gouty patient and their related factors. The study comprised 183 subjects (112 cases and 71 controls) with 48% aborigines and 52% non-aborigines who lived at Ho-Pin area of Taichung County during January 2005 through November 2006.Blood samples from our participators were collected, and were used to analyzed biochemical indicators.The hURAT1 genotypes in exon1 C258T and exon2 C426T were performed by the PCR-restriction fragment length polymorphism assay. To confirm the genotyping results, selected PCR-amplified DNA samples were examined by DNA sequencing.
Our results revealed that gouty paitients had higher proportions in male and single. Adjusting for age and gender effects, the mean uric acid level of 9.1mg/dL of aboriginal gouty patients was higher than 7.1 mg/dL in non-aboriginal subjects. In addition, after the adjustment for age ,gender and race , gouty paitients had higher serum uric acid (8.2 vs. 5.8 mg/dl),creatinene levels (1.1 vs.0.9 mg/dl), and also had higher proportions of hypertension(35.7 vs 2.8 %) and hyperlipidemia(15.2 vs 0.0 %) than controls.The hURAT1 C258T and C426T genotypes were associated with gout occurencesignificantly. Multiple logistic regression analysis also showed that the 258T carriers (CT/TT) were significantly associated with a decreased risk for gout (OR=0.21; 95% CI=0.07-0.60), and C426T TT genotype carriers was significantly associated with an increased risk of gout development (OR=3.70; 95% CI= 1.31 - 10.43) .
