Association of the ABCG2 Q141K variant with gout in Kinh Vietnamese: a cross-sectional study.

IF 2.8 3区 医学 Q2 RHEUMATOLOGY
Clinical Rheumatology Pub Date : 2025-10-01 Epub Date: 2025-08-26 DOI:10.1007/s10067-025-07656-w
Khanh Phu Nguyen, Linh Hoang Gia Le, Minh Duc Do, Khoa Dinh Nguyen, Thao Phuong Mai
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引用次数: 0

Abstract

Background: Gout is a form of microcrystalline arthritis caused by chronic hyperuricemia, leading to monosodium urate crystal deposition. The ABCG2 gene, particularly the Q141K polymorphism, is a significant genetic factor influencing gout susceptibility and the therapeutic response to allopurinol. However, the association of Q141K with gout in the Vietnamese population remains undefined. This study investigates the relationship between the ABCG2 Q141K polymorphism and gout susceptibility among Kinh Vietnamese individuals.

Materials and methods: This cross-sectional study includes 468 participants, comprising 234 gout patients and 234 controls. The basic clinical and paraclinical characteristics of all the participants were collected. Genomic DNA was extracted from peripheral blood samples and genotyped for the ABCG2 Q141K polymorphism using real-time PCR. The association of ABCG2 Q141K with gout and clinical characteristics was analyzed.

Results: The ABCG2 Q141K polymorphism is significantly associated with gout in dominant, recessive, and additive genetic models. Specifically, the A allele was identified as a risk factor, observed in 46.8% of gout patients compared to 25% of healthy controls.

Conclusion: The ABCG2 Q141K polymorphism significantly increases gout susceptibility among the Kinh Vietnamese population. The high frequency of the A allele in Vietnamese gout patients highlights the potential utility of genetic screening for appropriate preventive strategies. Key Points • The data regarding the contributions of genetic factors in gout of Vietnamese population remain insufficient. • This study showed that the ABCG2 Q141K polymorphism significantly increases gout susceptibility among the Kinh Vietnamese population.

ABCG2 Q141K变异与越南京族痛风的关联:一项横断面研究
背景:痛风是一种由慢性高尿酸血症引起的微晶性关节炎,导致尿酸钠结晶沉积。ABCG2基因,特别是Q141K多态性,是影响痛风易感性和别嘌呤醇治疗反应的重要遗传因素。然而,Q141K与越南人群痛风的关系尚不明确。本研究探讨了越南京族人群中ABCG2 Q141K多态性与痛风易感性的关系。材料和方法:本横断面研究包括468名参与者,包括234名痛风患者和234名对照组。收集所有参与者的基本临床和临床旁特征。从外周血样本中提取基因组DNA,并使用实时PCR对ABCG2 Q141K多态性进行基因分型。分析ABCG2 Q141K与痛风及临床特征的关系。结果:ABCG2 Q141K多态性在显性、隐性和加性遗传模型中与痛风显著相关。具体来说,A等位基因被确定为一个危险因素,46.8%的痛风患者中有A等位基因,而健康对照组中有25%。结论:ABCG2 Q141K多态性显著增加越南京族人群痛风易感性。越南痛风患者中A等位基因的高频率突出了遗传筛查对适当预防策略的潜在效用。•关于遗传因素对越南人群痛风的影响的数据仍然不足。•本研究表明,ABCG2 Q141K多态性显著增加越南京族人群痛风易感性。
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来源期刊
Clinical Rheumatology
Clinical Rheumatology 医学-风湿病学
CiteScore
6.90
自引率
2.90%
发文量
441
审稿时长
3 months
期刊介绍: Clinical Rheumatology is an international English-language journal devoted to publishing original clinical investigation and research in the general field of rheumatology with accent on clinical aspects at postgraduate level. The journal succeeds Acta Rheumatologica Belgica, originally founded in 1945 as the official journal of the Belgian Rheumatology Society. Clinical Rheumatology aims to cover all modern trends in clinical and experimental research as well as the management and evaluation of diagnostic and treatment procedures connected with the inflammatory, immunologic, metabolic, genetic and degenerative soft and hard connective tissue diseases.
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