ABCG2基因變異增加痛風風險
時間：2014-01-24 11:03:00 來源：三濟生物 點擊：
日前，來自日本防衛(wèi)醫(yī)科大學和名古屋大學等機構的研究人員確認了一個名為 ABCG2 的基因與痛風有關，它如果變異會導致腎臟處理尿酸的功能異常，從而增加患上“高尿酸血癥”的風險，而高尿酸血癥經(jīng)常是痛風的前奏。相關研究論文刊登在了近期出版的《科學報告》（Scientific Reports）雜志上。
痛風是一種因代謝異常使尿酸累積而引起的疾病。研究人員通過分析 644 名高尿酸血癥患者和 1623 名尿酸值正常者的情況，發(fā)現(xiàn)基因 ABCG2 是否變異與患病風險有關。
分析顯示，該基因的變異會導致腎臟功能異常，而人體內(nèi)的大部分尿酸是通過腎臟排出。該基因即使只有少許變異，相應的人患高尿酸血癥的風險也會是正常人的 2 倍以上；如果該基因變異程度較大，則患病風險是正常人的 4.5 倍；在有些情況下，該基因的變異甚至可導致發(fā)病風險達正常人的16倍。
研究人員指出，可能有半數(shù)以上日本人的 ABCG2 基因存在變異。他們表示，到醫(yī)療機構進行相關基因檢查，有助于預防痛風和采取適當?shù)闹委煼椒ā?br />
原文鏈接：
Common dysfunctional variants in ABCG2 are a major cause of early-onset gout
Gout is a common disease which mostly occurs after middle age, but more people nowadays develop it before the age of thirty. We investigated whether common dysfunction of ABCG2, a high-capacity urate transporter which regulates serum uric acid levels, causes early-onset gout. 705 Japanese male gout cases with onset age data and 1,887 male controls were genotyped, and the ABCG2 functions which are estimated by its genotype combination were determined. The onset age was 6.5?years earlier with severe ABCG2 dysfunction than with normal ABCG2 function (P = 6.14 × 10−3). Patients with mild to severe ABCG2 dysfunction accounted for 88.2% of early-onset cases (twenties or younger). Severe ABCG2 dysfunction particularly increased the risk of early-onset gout (odds ratio 22.2, P = 4.66 × 10−6). Our finding that common dysfunction of ABCG2 is a major cause of early-onset gout will serve to improve earlier prevention and therapy for high-risk individuals.
