Aim: To explore the association of single nucleotide polymorphisms (SNPs) in the gene region with the susceptibility to Behcet's disease (BD) in a Chinese Han population.

Methods: A total of eight SNPs in the candidate gene region (rs11792633, rs7025417, rs10975519 and rs1048274 in ; rs2310220, rs12712142, rs13424006 and rs3821204 in ) were genotyped in783 BD patients and 701 healthy controls by the Sequenom Mass Array iPLEX platform.

Results: A statistically significant association was observed between rs12712142 and BD patients. The frequency of rs12712142 variant allele A was significantly lower in BD patients than that in controls (OR=0.8, 95%CI: 0.69-0.94, =0.039); the genotype distribution (=0.043) and additive and dominant genetic model analyses (OR=0.8, 95%CI: 0.69-0.94, =0.040 and OR=0.72, 95%CI: 0.58-0.88, =0.011) also indicated a strong association between rs12712142 and BD patients.

Conclusion: This is the first study to reveal the association between rs12712142 variant allele A and the decreased risk of BD in the Chinese Han population, indicating a protective role of in the pathogenesis of BD.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8403853PMC
http://dx.doi.org/10.18240/ijo.2021.09.04DOI Listing

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