Association of Long Non-coding RNA C1RL-AS1 and PTPN6 Gene Polymorphisms with Ocular Behcet’s Disease in Han Chinese

ABSTRACT

Purpose

To explore the association of the polymorphisms in PTPN6 and LncRNA C1RL-AS1 genes with ocular BD in Han Chinese patients.

Methods

Correlation study was performed using the iPLEX system on a cohort of ocular BD patients andcontrols. The genotyping of 7 SNPs for LncRNA C1RL-AS1 and PTPN6 genes in ocular BD patients was performed using the iPLEX Gold genotype.

Results

The frequencies of rs4013722 AG genotype/A allele in LncRNA C1RL-AS1 were significantly decreased in BD patients, and the frequency of GG genotype was significantly increased in BD patients. The rs4013722 was associated with ocular BD in male patients, but not in female patients. The AG and GG genotype of rs4013722 were associated with skin lesions in male patients. The gene polymorphisms of PTPN6 were not associated with BD patients.

Conclusions

The LncRNA C1RL-AS1/rs4013722 polymorphism conferred susceptibility to ocular BD in Han Chinese patients, which was influenced by sex.

Abbreviations: LncRNA: Long Non-coding RNA; BD: Behcet’s disease; SNP: single nucleotide polymorphism; PBMCs: peripheral blood mononuclear cells; PTPs: Protein tyrosine phosphatases; PTPN6: protein tyrosine phosphatase non-receptor 6; GWAS: genome-wide association study; HWE: Hardy-Weinberg equilibrium; LD: linkage disequilibrium; OR: odds ratio; CI: confidence interval; eQTL: expression quantitative trait loci; IBD: inflammatory bowel disease; RA: rheumatoid arthritis; P_adj: Bonferroni corrected P value; NS: non-significant.

KEYWORDS:

• Behcet’s disease
• genetic polymorphism
• LncRNA
• PTPN6

Acknowledgments

The authors would like to thank all the participants enrolled in this study.

Author contributions

XW and QZ conceptualised and designed the study, coordinated and supervised data collection, drafted the initial manuscript and reviewed and revised the manuscript. PY conceptualised and designed the study, and critically reviewed the manuscript for important intellectual content. SH and JQ critically reviewed the manuscript for important intellectual content and revised the manuscript. QC, LD and FL collected samples, collected data and carried out the initial analyses. All authors approved the final manuscript as submitted and agree to be accountable for all aspects of the work.

Disclosure statement

No potential conflict of interest was reported by the author(s).

Ethical consideration

Written informed consent was provided by all subjects. The experimental research program was approved by the Clinical Research Ethics Committee of the First Affiliated Hospital of Chongqing Medical University (permit no. 2009-201008). The study was carried out according to the principles of Helsinki Declaration. All assays were carried out by the approved guidelines and regulations.

Provenance and peer review

Not commissioned, externally peer reviewed.

Data availability statement

The data that support the findings of this study are openly available in GWAS Catalog at https://www.ebi.ac.uk/gwas/downloads/summary-statistics and GTEx at https://www.gtexportal.org/home/snp/rs4013722.

Supplementary material

Supplemental data for this article can be accessed online at https://doi.org/10.1080/09273948.2023.2170887

Additional information

Funding

This study was supported by Natural Science Foundation Major International (Regional) Joint Research Project (81720108009), Chongqing Outstanding Scientists Project (2019), Chongqing Key Laboratory of Ophthalmology (CSTC, 2008CA5003), Chongqing Science & Technology Platform and Base Construction Program (cstc2014pt-sy10002), Chongqing Chief Medical Scientist Project (2018), National Natural Science Foundation Project (82070935), Chongqing Natural Science Foundation Project (cstc2019jcyj-msxmX0398), Joint Research Project of Health Bureau and Science & Technology Platform (2019MSXM003) and the Innovative Research Group Project of Chongqing Education Commission (CXQT19015). The funding organizations had no role in the design or conduct of this study.