July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
How the genetic evolution happened in Bechet’s diseases along the Silk Route: China, Turkery and United Kingdom?
Author Affiliations & Notes
  • Yuan Tian
    Ophthalmology department, The First Affiliated Hospital of Chongqing Medical University, Chongqing, Chongqing, China
    Academic Unit of Ophthalmology, Institute of Inflammation and ageing, University of Birmingham, UK, Birmingham, United Kingdom
  • Ana Poveda Gallego
    Academic Unit of Ophthalmology, Institute of Inflammation and ageing, University of Birmingham, UK, Birmingham, United Kingdom
    School of Dentistry, University of Birmingham, Birmingham, England, United Kingdom
  • Mothith Shamdas
    Academic Unit of Ophthalmology, Institute of Inflammation and ageing, University of Birmingham, UK, Birmingham, United Kingdom
  • Hedayat Javidi
    Academic Unit of Ophthalmology, Institute of Inflammation and ageing, University of Birmingham, UK, Birmingham, United Kingdom
  • Saaeha Rauz
    Academic Unit of Ophthalmology, Institute of Inflammation and ageing, University of Birmingham, UK, Birmingham, United Kingdom
  • Philip Ian Murray
    Academic Unit of Ophthalmology, Institute of Inflammation and ageing, University of Birmingham, UK, Birmingham, United Kingdom
  • Peizeng Yang
    Ophthalmology department, The First Affiliated Hospital of Chongqing Medical University, Chongqing, Chongqing, China
  • Graham R Wallace
    Academic Unit of Ophthalmology, Institute of Inflammation and ageing, University of Birmingham, UK, Birmingham, United Kingdom
  • Footnotes
    Commercial Relationships   Yuan Tian, None; Ana Gallego, None; Mothith Shamdas, None; Hedayat Javidi, None; Saaeha Rauz, None; Philip Murray, None; Peizeng Yang, None; Graham Wallace, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 817. doi:
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      Yuan Tian, Ana Poveda Gallego, Mothith Shamdas, Hedayat Javidi, Saaeha Rauz, Philip Ian Murray, Peizeng Yang, Graham R Wallace; How the genetic evolution happened in Bechet’s diseases along the Silk Route: China, Turkery and United Kingdom?. Invest. Ophthalmol. Vis. Sci. 2019;60(9):817.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Recent genome-wide association studies(GWAS) showed the risk genes and loci in different population that related to Behcet's disease have a substantial difference. We hypothesize that even though the related mutants are different, they shared the common downstream effect which is the dysregulation of the same autoimmune pathways. In order to test our hypothesis, we conducted a population-based cohort study by investigating the association of 15 candidate single nucleotide polymorphisms(SNPs) in British BD cohort, and compare with other cohort studies such as Turkish and Chinese.

Methods : Fifteen suspicious SNPs from six genes have been selected from meta-analysis results based on previous GWAS. A case-control association study was performed in 120 patients with BD and 200 healthy controls in British cohort. Next generation sequencing(NGS) performed by illumina NextSeq500 and DNA genotyping was performed by using TaqMan SNP Genotyping Assays.The correlation between SNPs was analysed by Haploview4.2.

Results : Our current results showed two polymorphisms rs1310182 and rs2476601 in PTPN22 were strongly associated with BD in British cohort, but have less effect in Turkey population and even not exist in Han-Chinese. The rest thirteen SNPs (rs3825427, rs9517668, rs9517701 and rs7999348 in UBAC2, rs1805110 in TGFBR3, rs1522596 in GIMAP4 and rs6503695, rs2293152 in STAT3 and rs1518111, rs3024505 and rs3024490) have no significant difference in British BD patients, even they showed strongly associated with BD in other two cohort Han Chinese and Turkish. The haplotype analysis revealed that even SNPs rs6503695 and rs2293152 from gene STAT3 did not show a direct relationship with BD in UK cohort, but their combination of the haplotype CA showed significant different in BD patients as compared with health participates in UK cohort (p=0.0027, x2= 5.19).

Conclusions : In conclusion, our finding independently confirm, extend and refine the association of BD with six genes in different BD patients’ cohort. We further identified 2 SNPs (rs1310182 and rs2476601) in gene PTPN22 have strong association with BD in British cohort. In line with the functional investigation from China and Turkey cohort studies, our haplotype results indicate that the STAT3 pathway might be the main pathway involved into the development of BD no matter which ethnic background.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

 

 

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