Two novel SNPs rs1736952 and rs17354984 are highly associated with uveitis in ankylosing spondylitis

Q: What is the study’s primary goal regarding AS and uveitis?

To identify significant genetic variants, specifically SNPs, associated with noninfectious anterior uveitis in patients with ankylosing spondylitis.

Q: How was the genetic association analysis performed?

A genome-wide association study (GWAS) was conducted using genomic data from 468 AS patients in the Taiwan Precision Medicine Initiative, comparing those with and without noninfectious anterior uveitis.

Q: Which SNPs were identified as novel and strongly associated with uveitis?

The study found two novel SNP loci, rs1736952 and rs17354984, with p values below 5 × 10−8.

Sep 29, 2026

Uploaded by Valentina

Noninfectious anterior uveitis shares genetic determinants with ankylosing spondylitis (AS), and this study aims to uncover single nucleotide polymorphisms (SNPs) linked to uveitis risk. A genome-wide association study (GWAS) analyzed 468 Taiwanese AS participants, including 90 with noninfectious anterior uveitis. Two novel SNP loci, rs1736952 and rs17354984, reached genome-wide significance and implicated antigen presentation, interferon signaling, immune regulation, ciliary movement, and neurodegeneration. A 19-SNP polygenic risk score model yielded an AUC of 0.907, supporting enhanced risk prediction.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages11

Reading Time28 min

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Abstract

Background

Methods

Results

Conclusion

Introduction

J Chin MedAssoc Original article Two novel SNPs rs1736952 and rs17354984 are highly associated with uveitis in ankylosing spondylitis Ssu-Cheng Huanga, De-Kuang Hwanga,b, Wei-Chieh Fangc, Ai-Ru Hsiehd, Mei-Lin Shihe, Zi-Qing Zhuange, Chong-En Gaoe,f, Tai-Chi Lina,b, Shih-Jen Chena,b, Chih-Chien Hsua,b,* aSchool of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan, ROC; bDepartment of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC; cDepartment of Medical Education, Taipei Veterans General Hospital, Taipei, Taiwan, ROC; dDepartment of Statistics, Tamkang University, New Taipei City, Taiwan, ROC; eDepartment of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan, ROC; fInstitute of Clinical Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan, ROC Abstract Background: Noninfectious anterior uveitis shares genetic factors, including HLA-B27, with ankylosing spondylitis (AS) . The aim of this study was to identify significant single nucleotide polymorphisms (SNPs) associated with noninfectious anterior uveitis in AS patients, which may help predict help predict the risk of developing this condition and provide deeper insights into its genetic basis. Methods: A genome-wide association study (GWAS) was conducted using the genomic data of 468 AS patients, including 90 with noninfectious anterior uveitis and 378 without it, from the Taiwan Precision Medicine Initiative. This study identified relevant genes using SnpXplorer and developed a polygenic risk score (PRS) model to identify AS patients with an increased risk of noninfectious anterior uveitis. Biological pathways were analyzed via Enrichr-KG and various databases. Results: GWAS revealed two novel SNPs, rs1736952 and rs17354984, with p values <5 × 10−8 , and 74 SNPs with p values <1 × 10−4 . The associated genes were involved mainly in antigen presentation, interferon signaling, immune regulation pathways, ciliary movement, and neurodegeneration. An optimal PRS model was constructed using 19 SNPs, achieving an area under the curve (AUC) of 0.907. Conclusion: Our results revealed that two novel and significant SNP loci, rs1736952 and rs17354984, are strongly associated with noninfectious anterior uveitis in patients with AS. However, their roles in uveitis and other immune disorders warrant further investigation. Keywords: Ankylosing spondylitis; Genome-wide association study; Genetic risk score; Uveitis [www.ejcma.org](www.ejcma.org) 211 Huang et al. J Chin MedAssoc 1. INTRODUCTION Uveitis is an inflammation of the uvea, which includes the iris, ciliary body, and choroid. Uveitis can be classified based on anatomical location into anterior, intermediate, posterior, and panuveitis, and based on etiology into noninfectious and infectious types.1 Uveitis accounts for approximately 5% to 10% of visual impairments worldwide.2 If left untreated or inadequately managed, uveitis can lead to complications such as posterior synechiae, ocular hypertension, macular edema, cataracts, and glaucoma.3 Ankylosing spondylitis (AS) and uveitis are closely linked due to shared genetic immunological factors.4 A significant proportion of AS patients develop uveitis, particularly noninfectious anterior uveitis, a common complication of the disease.5 This strong association is largely attributed to the presence of the HLA-B27 antigen, which is prevalent in both AS and uveitis. The shared genetic factor of HLA-B27 suggests that both AS and noninfectious anterior uveitis may result from similar underlying genetic predispositions and immune system dysregulation. In fact, other genetic associations, such as ERAP-1, IL-23R, rs653778 of IFNA13, and rs28383797 of IFNA1, were discovered in previous studies.4,6,7 Other studies have investigated cytokines and chemokines in HLA-B27+ AS-associated anterior uveitis patients to better understand this disease.8 Geno

FAQs

What is the study’s primary goal regarding AS and uveitis?

To identify significant genetic variants, specifically SNPs, associated with noninfectious anterior uveitis in patients with ankylosing spondylitis.

How was the genetic association analysis performed?

A genome-wide association study (GWAS) was conducted using genomic data from 468 AS patients in the Taiwan Precision Medicine Initiative, comparing those with and without noninfectious anterior uveitis.

Which SNPs were identified as novel and strongly associated with uveitis?

The study found two novel SNP loci, rs1736952 and rs17354984, with p values below 5 × 10−8.

Sep 29, 2026

Uploaded by Valentina