ERAP1/ERAP2 and RUNX3 polymorphisms are not associated with ankylosing spondylitis susceptibility in Chinese Han

Area of Science:

• Immunogenetics
• Rheumatology
• Human Genetics

Background:

• Endoplasmic reticulum-associated aminopeptidase (ERAP1/ERAP2) and runt-related transcription factor 3 (RUNX3) gene polymorphisms have been linked to ankylosing spondylitis (AS) in European populations.
• Previous research on Asian populations yielded conflicting results regarding the association of these gene polymorphisms with AS.
• Acute anterior uveitis (AAU) is a common extra-articular manifestation of AS.

Purpose of the Study:

• To investigate the association between candidate single nucleotide polymorphisms (SNPs) in ERAP1/ERAP2 and RUNX3 genes and susceptibility to AS with or without AAU in the Chinese Han population.
• To clarify the contradictory findings reported in previous studies concerning these gene polymorphisms and AS in Asian populations.

Main Methods:

• A case-control association study was conducted involving 882 AS+AAU-, 884 AS+AAU+, and 1727 healthy controls.
• Genotyping of seventeen candidate SNPs in ERAP1/ERAP2 and RUNX3 genes was performed using the iPLEX Gold assay.
• A meta-analysis was performed to evaluate the association of ERAP1 polymorphisms with AS susceptibility in Asian populations.

Main Results:

• No significant association was found between the tested SNPs in ERAP1, ERAP2, or RUNX3 genes and the susceptibility to AS, regardless of AAU status.
• A separate case-control analysis of HLA-B27-positive AS patients and healthy controls also did not reveal any association with the tested SNPs.
• Meta-analysis confirmed no association between specific ERAP1 SNPs (rs30187, rs27037, rs27980, rs27434, rs27582) and AS in the Chinese Han population.

Conclusions:

• The seventeen candidate SNPs in ERAP1/ERAP2 and RUNX3 genes do not confer disease susceptibility to ankylosing spondylitis in the Chinese Han population.
• The findings suggest that these specific genetic variations may not play a significant role in AS pathogenesis in this ethnic group.
• Further research may be needed to explore other genetic factors contributing to AS susceptibility in the Chinese Han population.