Project's information

Project's title Study on the correlation between single nucleotide polymorphism (SNP) of some genes and inflammatory expression in Vietnamese psoriasis patients.
Project’s code GUST.STS.ĐT2019-SH02
Research hosting institution Graduate University of Science and Technology
Project leader’s name Nguyen Thi Thuy Linh
Project duration 01/06/2019 - 30/06/2022
Project’s budget 300 million VND
Classify Fair
Goal and objectives of the project

Determining the correlation between single nucleotide polymorphisms (SNPs) of some genes related to clinical features and inflammatory expression levels in psoriasis patients.

Main results

- Theoretical results:
- Successfully collected medical record information, biochemical indicators and successfully isolated total DNA and plasma from the blood of psoriasis patients and healthy individuals.
- Identified polymorphisms on three genes PSORS1C3, CARD14 and TLR4 including:
• The PSORS1C3 gene identified 07 more nucleotide changes including: rs887464 G>A, rs11507945 C>T, rs369029873 G>A, rs3130506 C>T, rs3871246 A>G, rs11967629 G>A and +280 G>A at the 5' end (Table 1-2 and Figure 1). Among the 9 SNPs found in the PSORS1C3 gene, 4 genotypes including rs887464 AA, rs11507945 TT, rs11967629 AA and +280 GA in the PSORS1C3 gene had significantly higher frequencies in diseased samples compared with controls. Among the 09 SNPs found, 04 genotypes including rs887464 AA, rs11507945 TT, rs11967629 AA and +280 GA in the PSORS1C3 gene had significantly higher frequencies in the samples (25.35%, 11.27, respectively). %, 11.27% and 32.39%) compared with the control group (4.35%, 0%, 0% and 13.04%), respectively. Genotypic distribution of 09 SNPs with the exception of SNP rs887464 all obeyed the Hardy-Weinberg equilibrium (HWE) law (p>0.05).
• The CARD14 gene has identified 07 more nucleotide changes including SNP rs11653893 A>G in the intron 20 region; 02 SNPs c.3285+54 C>G and rs376428578 C>A in intron 21 region; 01 Non-synonymous SNPs (nsSNPs) p.T812A/S (c.3150 A>G/T); 03 SNPs are synonymous rs189286068 C>T, rs61757652 C>T and rs1486223942 C>T in exon 21 region.
• The TLR4 gene identified 08 more nucleotide changes, including 04 SNPs c.331-428 T>G, c.331-200 G>A, c.331-102 T>A and c.331-1 G>C is located in the region of introns 3 and 4 exonic SNPs rs770576183 G>C/A, rs1018673641 A>T, p.L101L (c.371 C>T) and p.S102S (c.376 C>T) in the exon region 4. Accordingly, rs1018673641 may be one of the most harmful nsSNPs in the TLR4 gene. Furthermore, the AT genotype of rs1018673641 had a higher frequency of occurrence in cases (15.5%) than in healthy individuals.
- The results of determining the amount of cytokines IL-6, IL-17A and TNF-α in psoriasis patients were higher than those of healthy controls.
- There were five haplotypes within block 1. Using the common haplotype G-G as a reference, two haplotypes (A-G and GA-GA) were associated with increased risks of psoriasis (8.45% and 29.6% for patients vs. 0% and 13.04% for controls, p=0.007 and p=0.029, respectively), whereas another haplotype (GA-G) was significantly less frequent in cases compared with controls (36.96% vs. 9.86%, p=0.002). A total of six haplotypes were inferred within block 2, in which two haplotypes (CT-AG and T-AG) were associated with decreased risks of psoriasis (19.72% and 16.9% for patients vs. 28.26% and 26.09% for controls, p=0.07 and p=0.063, respectively). Block 3 had seven haplotypes and the wild-type haplotype A-C-C was used as a reference. The haplotype frequency of G-T-T in block 3 was 11.27% in cases, while it was completely absent in controls (p=0.002). In block 4, there were nine haplotypes. Using the wild-type haplotype A-C-C as a reference, one haplotype (AG-CT-C) was significantly associated with psoriasis susceptibility (43.67% vs. 17.4%, p=0.002). 

Novelty and actuality and scientific meaningfulness of the results

- At the first time, Three haplotypes (A-G, GA-GA and G-T-T) in the PSORS1C3 gene, the AG-CT-C haplotype in the CARD14 gene and the T-T-T haplotype in the TLR4 gene were detected at a higher frequency in patients with psoriasis than in humans. strong.

Products of the project

- Scientific papers in referred journals (list):
Association of PSORS1C3, CARD14 and TLR4 genotypes and haplotypes with psoriasis susceptibility 
Nguyen Thi Thuy Linh1,#, Nguyen Hoang Giang2,#, Nguyen Thi Kim Lien2 , Bui Kieu Trang2 , Do Thi Trang2 , Nguyen Thy Ngoc3 , Vu Xuan Nghia4 , Le Tra My 2 , Can Van Mao5 , Nguyen Huy Hoang1,2 , Nguyen Thi Xuan1,2* 
1Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Ha Noi, Vietnam 
2Institute of Genome Research, Vietnam Academy of Science and Technology, Ha Noi, Vietnam 
3University of Science and Technology of Hanoi, Vietnam Academy of Science and Technology, Ha Noi, Vietnam 
4108 Military Central Hospital, Hanoi, Vietnam 
5Department of Pathophysiology, Vietnam Military Medical University, Ha Dong, Hanoi, Vietnam

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