日本新研究：ABCG2基因变异增加痛风风险

       日前，来自日本防卫医科大学和名古屋大学等机构的研究人员确认了一个名为 ABCG2 的基因与痛风有关，它如果变异会导致肾脏处理尿酸的功能异常，从而增加患上“高尿酸血症”的风险，而高尿酸血症经常是痛风的前奏。相关研究论文刊登在了近期出版的《科学报告》（Scientific Reports）杂志上。

        痛风是一种因代谢异常使尿酸累积而引起的疾病。研究人员通过分析 644 名高尿酸血症患者和 1623 名尿酸值正常者的情况，发现基因 ABCG2 是否变异与患病风险有关。

        分析显示，该基因的变异会导致肾脏功能异常，而人体内的大部分尿酸是通过肾脏排出。该基因即使只有少许变异，相应的人患高尿酸血症的风险也会是正常人的 2 倍以上；如果该基因变异程度较大，则患病风险是正常人的 4.5 倍；在有些情况下，该基因的变异甚至可导致发病风险达正常人的16倍。

        研究人员指出，可能有半数以上日本人的 ABCG2 基因存在变异。他们表示，到医疗机构进行相关基因检查，有助于预防痛风和采取适当的治疗方法。（转化医学网360zhyx.com）

原文链接：

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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.



来源：bio360