Department of Pharmacotherapy and Outcomes Science, School of Pharmacy, Virginia Commonwealth University, Richmond, VA, USA.
Population Sciences in the Pacific program, University of Hawaii Cancer Center, University of Hawaii at Mānoa, Honolulu, HI, USA.
Clin Rheumatol. 2020 Aug;39(8):2387-2392. doi: 10.1007/s10067-020-04994-9. Epub 2020 Feb 27.
Gout is a metabolic disorder and one of the most common arthritic conditions. Hyperuricemia is the hallmark of developing gout and mostly caused by uric acid underexcretion. Gout disproportionately affects people of specific races and ethnicities. Filipinos are the second-largest Asian population in the USA and reported to have a higher prevalence of gout and hyperuricemia than non-Filipino counterparts and Filipinos residing in the Philippines. The genetic polymorphism rs2231142 G>T in the ABCG2 has been strongly associated with hyperuricemia and gout across multiple populations. However, the prevalence of this variant in Filipinos is unknown. Therefore, assessing the prevalence of this variant may provide insights on the high prevalence of hyperuricemia and gout in Filipinos. A total of 190 DNA samples from pregnant females who self-identified as a Filipino from the Hawaii Biorepository Bank were genotyped for rs2231142 G>T in the ABCG2. The prevalence of the gout risk allele (T) (46%) was significantly higher in Filipinos than in samples of Caucasians (12%, p < 0.001), Han Chinese (29%, p = 0.014), and African Americans (3%, p < 0.001). Similarly, the prevalence of the gout-risk genotype (TT) (21%) was significantly higher in Filipinos than in samples of Caucasians (1%, p < 0.001), Han Chinese (9%, p = 0.002), and African Americans (0.1%, p < 0.001). Though there were no gout cases in this cohort, these findings are suggestive of a genetic basis to the high prevalence of hyperuricemia and gout in Filipinos. This might also explain the reported reduced urinary uric acid excretion in Filipinos compared with Caucasians. Key Points • The Filipinos have the highest prevalence of the gout-associated risk allele (T) of the rs2231142 G>T in ABCG2. • The high prevalence of the risk allele (T) of the rs2231142 G>T in ABCG2 may partly explain the reduced urinary urate excretion and early-onset gout in Filipinos. • The high prevalence of the risk allele (T) of the rs2231142 G > T in ABCG2 may predispose Filipinos to hyperuricemia and gout when acculturated to high-purine diet.
痛风是一种代谢紊乱疾病,也是最常见的关节炎病症之一。高尿酸血症是痛风发展的标志,主要是由于尿酸排泄不足引起的。痛风在特定种族和民族中的发病率更高。菲律宾人是美国第二大亚洲人群,据报道,他们的痛风和高尿酸血症的患病率高于非菲律宾人以及居住在菲律宾的菲律宾人。ABCG2 中的 rs2231142 G>T 基因多态性与多种人群的高尿酸血症和痛风密切相关。然而,这种变体在菲律宾人中的流行情况尚不清楚。因此,评估这种变体的流行情况可能有助于了解菲律宾人高尿酸血症和痛风的高发原因。从夏威夷生物库银行中自我认定为菲律宾人的 190 名孕妇的 DNA 样本中,对 ABCG2 中的 rs2231142 G>T 进行了基因分型。痛风风险等位基因(T)(46%)在菲律宾人中的流行率明显高于白种人(12%,p<0.001)、汉族(29%,p=0.014)和非裔美国人(3%,p<0.001)。同样,痛风风险基因型(TT)(21%)在菲律宾人中的流行率也明显高于白种人(1%,p<0.001)、汉族(9%,p=0.002)和非裔美国人(0.1%,p<0.001)。尽管该队列中没有痛风病例,但这些发现表明高尿酸血症和痛风在菲律宾人中高发具有遗传基础。这也可能解释了与白种人相比,菲律宾人尿液尿酸排泄减少的报告。关键点• 菲律宾人拥有 ABCG2 中 rs2231142 G>T 与痛风相关的风险等位基因(T)的最高流行率。• ABCG2 中 rs2231142 G>T 的风险等位基因(T)的高流行率可能部分解释了菲律宾人尿液尿酸排泄减少和痛风发病早的原因。• 当菲律宾人适应高嘌呤饮食时,ABCG2 中 rs2231142 G>T 的风险等位基因(T)的高流行率可能使他们易患高尿酸血症和痛风。