Nguyen Khanh Phu, Le Linh Hoang Gia, Do Minh Duc, Nguyen Khoa Dinh, Mai Thao Phuong
Military Hospital 175, Ho Chi Minh City, Vietnam.
Department of Physiology - Pathophysiology - Immunology, Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.
Clin Rheumatol. 2025 Aug 26. doi: 10.1007/s10067-025-07656-w.
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.
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.
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.
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.
痛风是一种由慢性高尿酸血症引起的微晶性关节炎,导致尿酸钠晶体沉积。ABCG2基因,特别是Q141K多态性,是影响痛风易感性和对别嘌醇治疗反应的重要遗传因素。然而,Q141K与越南人群痛风的关联仍不明确。本研究调查了ABCG2 Q141K多态性与越南京族个体痛风易感性之间的关系。
这项横断面研究包括468名参与者,其中234名痛风患者和234名对照。收集了所有参与者的基本临床和辅助临床特征。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。分析了ABCG2 Q141K与痛风及临床特征的关联。
ABCG2 Q141K多态性在显性、隐性和加性遗传模型中均与痛风显著相关。具体而言,A等位基因被确定为一个危险因素,在46.8%的痛风患者中观察到,而在健康对照中为25%。
ABCG2 Q141K多态性显著增加了越南京族人群的痛风易感性。越南痛风患者中A等位基因的高频率突出了基因筛查在制定适当预防策略方面的潜在效用。要点 • 关于遗传因素对越南人群痛风影响的数据仍然不足。 • 本研究表明,ABCG2 Q141K多态性显著增加了越南京族人群的痛风易感性。