The genetic contribution of HLA-E*01:03 and HLA-E*01:03-G*01:01 to Posner-Schlossman syndrome in southern Chinese

Huang, Xiaosheng; Xu, Yunping; Chen, WenChieh; Zhu, Tianhui; He, Liumei; Wang, Song-Xing; Peng, Shiming; Mei, Shaoyi; Wang, Yan; Zhao, Jun

doi:10.21037/atm.2019.11.70

Cited by 9 publications

(4 citation statements)

References 34 publications

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“…Hirose et al reported that the HLA-Bw54 and HLA-Bw54-Cw1 haplotype were overrepresented in patients with PSS in a Japanese population (6). In previous studies, we found that the HLA-C*14:02 and HLA-E*01:03 alleles, and the HLA-A*11:01-C*14:02, HLA-B*51:01-C*14:02, and HLA-E*01:03-G*01:04 haplotypes confer susceptibility to PSS in a southern Chinese population (7,8). However, the role of non-HLA genetic variants in PSS still needs to be investigated.…”

Section: Introductionmentioning

confidence: 72%

“…The adaptive immune system maintaining normal function needs appropriate balance between the stimulatory and inhibitory signals (9). The positive costimulatory signal involves the peptide-HLA engagement of the T cell receptor, which is associated with PSS (6)(7)(8)(9). The inhibitory signal is caused by the negative immune checkpoints (e.g., CTLA-4 and PD-1) to spare healthy cells and maintain self-tolerance (9).…”

Section: Introductionmentioning

confidence: 99%

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Polymorphisms and Circulating Plasma Protein Levels of Immune Checkpoints (CTLA-4 and PD-1) Are Associated With Posner-Schlossman Syndrome in Southern Chinese

Huang

Liu

et al. 2021

Front. Immunol.

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Cytotoxic T-lymphocyte associated protein 4 (CTLA-4) and programmed cell death 1 (PD-1) are well-known key immune checkpoints that play a crucial dampening effect on regulating T-cell homeostasis and self-tolerance. In this study, we aimed to evaluate the association between immune checkpoints (CTLA-4 and PD-1) and Posner-Schlossman syndrome (PSS) in a southern Chinese population. A total of 137 patients with PSS and 139 healthy controls from a southern Chinese population were recruited. Five single nucleotide polymorphisms (SNPs) of CTLA-4 (rs733618, rs4553808, rs5742909, rs231775, and rs3087243) and five SNPs of PD-1 (rs10204525, rs2227981, rs2227982, rs41386349, and rs36084323) were genotyped by SNaPshot technique. Soluble CTLA-4 (sCTLA-4) and soluble PD-1 (sPD-1) were determined by ELISA and antibody array assay, respectively. The frequencies of T allele at rs733618 and A allele at rs231775 of CTLA-4 were significantly higher in PSS patients than in healthy controls (corrected p (Pc) = 0.037; Pc = 0.044, respectively). The haplotype frequencies of CACGG haplotype (rs733618-rs4553808-rs5742909-rs231775-rs3087243) of CTLA-4 and TGAGC haplotype (rs10204525-rs2227981-rs2227982-rs41386349-rs36084323) of PD-1 in the PSS group was significantly lower than those in the control group (Pc = 0.015, p = 0.034, respectively). Circulating plasma levels of sCTLA-4 and sPD-1 in PSS patients were significantly higher than those in controls (all p < 0.001). The present study suggests that CTLA-4 and PD-1 genetic polymorphisms are associated with the susceptibility to PSS in a southern Chinese population. The upregulated circulating plasma protein levels of sCTLA-4 and sPD-1 might provide some hints regarding the dysfunction of immune checkpoints in PSS during the active status.

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Section: Introductionmentioning

confidence: 72%

Section: Introductionmentioning

confidence: 99%

Polymorphisms and Circulating Plasma Protein Levels of Immune Checkpoints (CTLA-4 and PD-1) Are Associated With Posner-Schlossman Syndrome in Southern Chinese

Huang

Liu

et al. 2021

Front. Immunol.

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“…In previous studies, many methods were used to partially or full-length sequence the HLA-E gene containing some SNP sites, including PCR-SBT and PCR-SSP [ 19 , 20 ]. Among these, the PCR-SBT method is considered as the gold standard and its results are accurate and comprehensive; it can help discover new SNP sites.…”

Section: Discussionmentioning

confidence: 99%

Establishment of Rapid Detection Methods for rs76971248 Related to Leukemia

Sun

Wang

et al. 2022

Disease Markers

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Background. The HLA-E gene is a member of the HLA-I gene family. Its genetic polymorphism is regarded as associated with numerous diseases. Establishing a rapid and accurate detection method of disease-related SNP sites in HLA-E is particularly important. Methods. Blood samples from 226 healthy blood donors and 228 leukemia patients were collected, and DNA was extracted. Three typing methods based on PCR-sequence-based typing, TaqMan genotyping, and high-resolution melting curve were established to identify rs76971248 (G>T). The Chi-square test was used for statistical analysis by SPSS. Results. Three methods based on PCR-SBT, TaqMan genotyping, and HRM were all able to identify rs76971248. The software for analyzing the results of HLA-E sequencing was easy to use, and the results were accurate. The frequency of rs76971248 in different types of leukemia patients was significantly lower than that in healthy blood donors ( p < 0.05 ). And the frequency of the G/G genotype in leukemia patients was significantly higher than that in healthy blood donors ( p < 0.05 ). Conclusions. For the screening of known SNP sites in large-scale populations, among the three methods, the TaqMan genotyping method had the advantage of shortest time consumption, simplest operation, and greatest specificity, which was the most appropriate method for this experiment. The analysis software for HLA-E gene sequencing needed to be further optimized. rs76971248 had a protective effect against leukemia. And the G/G genotype was a risk factor for leukemia.

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“…Multiple genetic loci in human leukocyte antigen (HLA) have been identified to be associated with PSS in Japanese and Chinese populations, such as HLA-Ia, HLA-II, HLA-Bw54, HLA-E, and HLA-G. These recent genetic studies have not only helped shed light on the pathogenesis of the disease, but also have suggested that they share common etiologies with other hypertensive uveitic conditions (5)(6)(7)(8). To date, however, no specific gene other than HLA has been found to directly cause PSS.…”

Section: Introductionmentioning

confidence: 99%

CFH I62V as a Putative Genetic Marker for Posner-Schlossman Syndrome

et al. 2021

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Objective: Posner-Schlossman syndrome (PSS), also known as glaucomatocyclitic crisis, is an ocular condition characterized by recurrent attacks of anterior uveitis and raised intraocular pressure. Previous studies by our team and others have identified the genetic association of complement pathway genes with uveitis and glaucoma. This study aimed to investigate the complement genes in PSS patients with the view of elucidating the genetic background of the disease.Methods: A total of 331 subjects (56 PSS patients and 275 controls) were recruited for this study. We selected 27 variants in six complement pathway genes (SERPING1, C2, CFB, CFH, C3, and C5) and detected them using TaqMan single nucleotide polymorphism (SNP) Genotyping Assays. Univariate SNP association analysis, haplotype-based association analysis, gene-gene interaction analysis among complement genes, and genotype-phenotype correlation analysis were performed.Results: Among the 27 variants of six complement pathway genes, the functional variant I62V (rs800292) at the CFH gene was found to be significantly associated with PSS; there was a significant increase in the frequency of A allele and AA homozygosity in PSS patients than in controls (P = 1.79 × 10−4; odds ratio (OR) 2.18, 95% CI: 1.44–3.29; P = 4.65 × 10−4; OR 3.66, 95% CI: 1.70–7.85, respectively). The additive effect of CFH-rs800292 and SERPING1-rs3824988 was identified with an OR of 12.50 (95% CI: 2.16–72.28). Genotype-phenotype analysis indicated that the rs800292 AA genotype was associated with a higher intraocular pressure and higher frequency of recurrence. Unlike a high proportion of human leukocyte antigen (HLA)-B27 positivity in anterior uveitis, only 3 in 56 (5.36%) PSS patients were HLA-B27 positive. In addition, one haplotype block (GC) in the SERPING1 gene showed a nominal association with PSS with an increased risk of 2.04 (P = 0.01; 95% CI: 1.18–3.53), but the P-value could not withstand the Bonferroni correction (Pcorr > 0.05).Conclusion: This study revealed a genetic association of a CFH variant with PSS as well as its clinical parameters, implying that the alternative complement pathway might play an important role in the pathogenesis of PSS. Further studies to enrich the understanding of the genetic background of PSS and the role of the complement system in ocular inflammation are warranted.

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The genetic contribution of HLA-E01:03 and HLA-E01:03-G*01:01 to Posner-Schlossman syndrome in southern Chinese

Cited by 9 publications

References 34 publications

Polymorphisms and Circulating Plasma Protein Levels of Immune Checkpoints (CTLA-4 and PD-1) Are Associated With Posner-Schlossman Syndrome in Southern Chinese

Polymorphisms and Circulating Plasma Protein Levels of Immune Checkpoints (CTLA-4 and PD-1) Are Associated With Posner-Schlossman Syndrome in Southern Chinese

Establishment of Rapid Detection Methods for rs76971248 Related to Leukemia

CFH I62V as a Putative Genetic Marker for Posner-Schlossman Syndrome

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