# B3GNT2 , GPR35 , PSMG1 Gene Polymorphisms Are Related With Susceptibility and Severity of Ankylosing Spondylitis in Chinese Han Population

**Authors:** Zijian Lian, Bin Zhao, Wei Luo, Jun Liu, Jing Wang, Wei Chai, Yan Wang, Songqing Ye, Xinlong Ma

PMC · DOI: 10.1002/mgg3.70125 · Molecular Genetics & Genomic Medicine · 2025-07-30

## TL;DR

This study finds that specific gene variations in B3GNT2, GPR35, and PSMG1 are linked to ankylosing spondylitis susceptibility and severity in the Chinese Han population.

## Contribution

The study identifies novel associations between SNPs in B3GNT2, GPR35, and PSMG1 genes and AS susceptibility and severity in the Chinese Han population.

## Key findings

- The rs4672501 SNP in B3GNT2 is associated with both AS susceptibility and severity.
- The rs4816648 SNP in PSMG1 is associated with both AS susceptibility and severity.
- The rs4676410 SNP in GPR35 is associated with AS susceptibility but not severity in the Chinese Han population.

## Abstract

Latest research on ankylosing spondylitis (AS) indicates a link between the B3GNT2, PSMG1 genes and susceptibility to AS among western populations. However, the association of these three genes with AS in eastern populations remains insufficiently explored. It is necessary to replicate these studies in other populations. Consequently, we chose tagSNPs in these three genes in the Chinese Han population to be sequenced.

We tried to find the SNP loci that are associated in both eastern and western populations through repeated experiments. Furthermore, our research extended to examining the link between these genes and the severity of AS. This study aimed to evaluate the association between the tagSNPs of B3GNT2 (rs10865331, rs6545925, rs467250), the rs4676410 SNP on GPR35, and the rs4816648 SNP of PSMG1 with AS susceptibility and disease activity in a Chinese Han population.

We collected blood samples from 497 patients with AS and 498 control subjects and sequenced 5 tagSNPs in B3GNT2, 1 tagSNP in GPR35, and 6 tagSNPs in PSMG1.

Within the five selected tagSNPs of B3GNT2, the rs10865331, rs6545925, and rs4672501 tagSNPs are associated with susceptibility to AS. Additionally, the rs4672501 SNP is not only associated with susceptibility to AS, but also with the severity of AS. For the first time, we find that the rs4676410 SNP on the GPR35 gene is associated with susceptibility to AS, but not associated with the severity of AS in the Chinese Han population. We find for the first time that the rs4816648 SNP of the PSMG1 gene is associated with both susceptibility and severity of ankylosing spondylitis.

B3GNT2 and PSMG1 genes are related to both susceptibility and severity of AS. The GPR35 gene is related to susceptibility to AS in the Chinese Han population, which corroborates the findings of research conducted in western populations.

B3GNT2, GPR35, and PSMG1genes are related to ankylosing spondylitis in the Chinese Han population.

## Linked entities

- **Genes:** B3GNT2 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2) [NCBI Gene 10678], GPR35 (G protein-coupled receptor 35) [NCBI Gene 2859], PSMG1 (proteasome assembly chaperone 1) [NCBI Gene 8624]
- **Diseases:** ankylosing spondylitis (MONDO:0005306)

## Full-text entities

- **Genes:** B3GNT2 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2) [NCBI Gene 10678] {aka 3-Gn-T1, 3-Gn-T2, B3GN-T2, B3GNT, B3GNT-2, B3GNT1}, SRC (SRC proto-oncogene, non-receptor tyrosine kinase) [NCBI Gene 6714] {aka ASV, SRC1, THC6, c-SRC, p60-Src}, NCAM1 (neural cell adhesion molecule 1) [NCBI Gene 4684] {aka CD56, MSK39, NCAM}, GPR35 (G protein-coupled receptor 35) [NCBI Gene 2859], ATP5IF1 (ATP synthase inhibitory factor subunit 1) [NCBI Gene 93974] {aka ATPI, ATPIF1, ATPIP, IP}, PSMG1 (proteasome assembly chaperone 1) [NCBI Gene 8624] {aka C21LRP, DSCR2, LRPC21, PAC-1, PAC1, Pba1}, CD14 (CD14 molecule) [NCBI Gene 929], MIR484 (microRNA 484) [NCBI Gene 619553] {aka MIRN484, hsa-mir-484, mir-484}, ITGAM (integrin subunit alpha M) [NCBI Gene 3684] {aka CD11B, CR3A, HNA-4, MAC-1, MAC1A, MO1A}, HLA-B (major histocompatibility complex, class I, B) [NCBI Gene 3106] {aka AS, B-4901, HLAB}, CD4 (CD4 molecule) [NCBI Gene 920] {aka CD4mut, IMD79, Leu-3, OKT4D, T4}, CD8A (CD8 subunit alpha) [NCBI Gene 925] {aka CD8, CD8alpha, IMD116, Leu2, p32}, GNAI1 (G protein subunit alpha i1) [NCBI Gene 2770] {aka Gi, HG1B, NEDHISB}, ITGAE (integrin subunit alpha E) [NCBI Gene 3682] {aka CD103, HUMINAE}
- **Diseases:** IBD (MESH:D015212), cancer (MESH:D009369), inflammation (MESH:D007249), ischemia (MESH:D007511), rigidity (MESH:D009127), hypertension (MESH:D006973), psoriasis (MESH:D011565), asthma (MESH:D001249), gastric cancer (MESH:D013274), prostate cancer (MESH:D011471), UC (MESH:D003093), COVID-19 (MESH:D000086382), AS (MESH:D013167), inflammatory pain (MESH:D010146), rheumatoid arthritis (MESH:D001172), autoimmune disorders (MESH:D001327), joint ankylosis (MESH:D000844), PSC (MESH:D015209), kyphosis (MESH:D007738), rheumatoid conditions (MESH:D011695), sacroiliac arthritis (MESH:C563037), diabetes (MESH:D003920), swelling (MESH:D004487), spine (MESH:D016135), heart disease (MESH:D006331)
- **Chemicals:** KynA (-), TC (MESH:D013667), polylactosamine (MESH:C066929), disaccharide (MESH:D004187), GlcNAc (MESH:D000117), poly-N-acetyllactosamine (MESH:C037199), ATP (MESH:D000255)
- **Species:** Mus musculus (house mouse, species) [taxon 10090], Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs2837485, rs4672482, rs4816648, rs2837510, rs2142117, rs3749171, rs10865331, rs7605321, rs2150413, rs2242944, rs4672501, rs467250, rs4676410, rs6545925

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## Figures

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## References

41 references — full list in the complete paper: https://tomesphere.com/paper/PMC12308515/full.md

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Source: https://tomesphere.com/paper/PMC12308515