Variant of some genes related to gout in Vietnamese

04/10/2019

Gout is a common arthritis disease in Vietnam and around the world, caused by an increase in blood uric acid, leading to the formation of urate crystals in joints and some other tissues. The incidence of gout in countries around the world ranges from 0.1-10%. In Vietnam, according to the statistics of the Community Orientated Program for the Control of Rheumatic Diseases (COPCORD), the incidence of gout is about 0.14%. The disease is concentrated in middle-aged men, especially those who eat a lot of protein and often drink alcohol. In addition, genetic factors have been identified as being associated with the risk of gout.

Genome Wide Association Studies (GWAS) and studies on meta-analysis have determined the correlation between gout and uric acid content in the blood with variations of many genes, especially gene groups encoding membrane protein channels involved in urate transport. In Vietnam, current gout studies focus on epidemiological, clinical, subclinical and gout characteristics. Therefore, it is necessary to conduct research on the influence of genetic factors on gout, creating a basis for application in diagnosing gout risk and treating gout in Vietnam. For that purpose, the Vietnam Academy of Science and Technology (VAST) assigned the Institute of Genome Research the project "Researching single nucleotide polymorphism (SNP) of some gout-related genes in Vietnamese". The project was chaired by Dr. Nguyen Thuy Duong in the 2017-2018 period.

After 2 years of implementation, the project conducted a survey and evaluated a total of 521 samples of gout and healthy patients at Nguyen Trai Hospital, Ho Chi Minh City. Based on statistical analysis and genetic techniques such as PCR-RFLP, amplification and sequencing of specific gene regions (Figure 1), the frequency of alleles of seven variants on five genes, including ABCG2, SLC22A12, TNFα, TLR4 and SLC17A1, were identified. Analysis of the correlation between the allele frequency of the above gene variants and the clinical features of gout patients showed that the two polymorphisms of ABCG2 rs72552713 and SLC22A12 rs11231825 are closely related to the risk of gout, in which the variable ABCG2 rs72552713 is associated with an increased risk of gout and the SLC22A12 rs11231825 variant reduces the risk of gout in individuals.

10.3a1
Figure 1. A) Electrophoresis image representing some PCR products cloned SLC17A1 rs1165196 cut with TspRI enzyme;
B) The sequence of three representative samples with genotypes GG, AA and GA of SLC17A1 rs1165196.

Based on the research results, the project built a procedure to assess the risk of gout in Vietnamese through identifying polymorphic genotypes ABCG2 rs72552713 (Figure 2). In particular, the results of genotyping determination will be combined with the results of the physical examination, especially clinical indicators such as blood uric acid and leukocytes. This will be done before making evaluation conclusions on the risk of gout and giving advice on adjusting the living and eating habits of patients, helping to prevent and minimize the risk of gout.

Figure 2. Diagram illustrating the steps for conducting gout risk assessment in Vietnamese.

The project results were published in Medicina - an international journal in the SCI-E catalog and in Biotechnology – a journal in Vietnam.

On May 9th, 2019, the project was appraised and ranked Excellent by the Council of Science and Technology under VAST.

Translated by Tuyet Nhung
Link to Vietnamese version

Tags: