Study of association of CTLA4 gene variants to non‐anterior uveitis

Rodríguez, Daniel Salazar; Lopera, A. Serrano; Cordero‐Coma, Miguel; Márquez, Ana; Fonollosa, Alejandro; Ruiz-Arruza, Ioana; Callejas‐Rubio, José Luis; Serrano, José; Valle, David Díaz; Pato, Esperanza; Cañal, J.; Río, María José del; Capella, María José; Blanco, Ana; Olea, J.L.; Cordero, Yudelkis Benítez; Martín-Villa, José Manuel; Gorroño-Echebarría, Marina Begoña; Molins, Blanca; Adán, Alfredo; Martín, Javier

doi:10.1111/tan.12668

Cited by 2 publications

(3 citation statements)

References 25 publications

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“…[ 23 ] While, rs733618 SNP had no significant association with nonanterior uveitis. [ 17 ] However, in this study we found that heterozygote and homozygote of rs733618 T allele were mildly associated with decreased susceptibility for RSA. At the same time, no significant association has been discovered between rs733618 alleles and RSA susceptibility.…”

Section: Discussioncontrasting

confidence: 61%

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Correlation between CTLA4 genetic polymorphisms, its serum protein level and the susceptibility to recurrent spontaneous abortion

Liu

Qin

et al. 2018

Medicine

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Present study was aimed to detect the influence of cytotoxic T-lymphocyte associated protein 4 (CTLA4) gene polymorphisms for the risk of recurrent spontaneous abortion (RSA), as well as the serum level of CTLA4 protein in RSA patients.One hundred thirty-three RSA patients and 146 healthy persons were recruited in this case–control study. PCR-RFLP was used to genotype the CTLA4 gene polymorphisms both in case and control groups. Serum level of CTLA4 was detected by ELISA kit. Quantitative variables were compared by t test or Mann–Whitney U test between groups. Qualitative variables were evaluated by χ2 test or Fisher exact test. Association strength was expressed by odds ratios (ORs) and 95% confidence intervals (95% CIs).G allele of rs4553808 (P = .027, OR = 0.570, 95% CI = 0.345–0.942) and T allele of rs5742909 (P = .027, OR = 0.570, 95% CI = 0.345–0.942) were distinctly associated with reduced susceptibility of RSA. Distinctly negative association has been discovered between rs231775 AA genotype and RSA susceptibility (P = .040, OR = 0.427, 95% CI = 0.188–0.973). CTLA4 protein had significantly higher serum level in RSA patients than in healthy controls (P = .028). In RSA patients, AA genotype carriers had higher CTLA4 serum level than that GG genotype carriers (17.83 ± 6.35 ng/mL vs 10.41 ± 7.28 ng/mL, P = .039).Minor alleles of CTLA4 polymorphisms might inhibit the RSA susceptibility via upregulated the protein expression level.

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Section: Discussioncontrasting

confidence: 61%

“…All of these SNPs were widely explored in different diseases. [ 17 – 19 ] However, the genetic association of these SNPs with RSA occurrence were rarely reported in Chinese Han population.…”

Section: Introductionmentioning

confidence: 99%

Correlation between CTLA4 genetic polymorphisms, its serum protein level and the susceptibility to recurrent spontaneous abortion

Liu

Qin

et al. 2018

Medicine

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“…Among these studies, one had depicted other PTPN22 polymorphisms with VKH disease, and another six did not contain enough genotypic data. Finally, 20 published records with 5,320 cases and 8,839 controls were included in our meta-analysis [13,16,[25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42].…”

Section: Literature Searchmentioning

confidence: 99%

Meta-Analysis of the Genetic Association between PTPN22 and CTLA-4 Variants and Risk of Uveitis

Zhang

Zhou

et al. 2022

Ophthalmic Res

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Background: Though the risk of PTPN22, CTLA-4 genetic variants with uveitis have been developed, the combined results still remain uncertain and controversial. Objectives: To perform a meta-analysis to estimate the precise association of PTPN22 (rs2488457, rs2476601) and CTLA-4 (rs231775, rs5742909, rs4553808, and rs3087243) polymorphisms with uveitis susceptibility. Method: Five electronic databases (PubMed, Embase, Web of Science, CBM, CNKI) were systematically searched for relevant literature up to July 20, 2021. All statistical analysis were evaluated by STATA 12.0 software and R programming language. Results: Our meta-results indicated that PTPN22 rs2488457 conferred positive susceptibility to uveitis (OR=1.18, 95%CI=1.02-1.38, p=0.029). In stratified analysis by ethnicity, rs2488457 C allele had a growing tendency towards uveitis in Asian region (OR=1.21, 95%CI=1.00-1.45, p=0.046). For CTLA-4 rs231775, subgroup analysis based on ethnicity manifested a negative association among uveitis individuals in Africa region (OR=0.25, 95%CI=0.19-0.33, p<0.001). For CTLA-4 rs4553808, subgroup analysis by disease type revealed that GG genotype was associated with an elevated risk of Behcet's disease (OR=3.22, 95%CI=1.05-9.90, p=0.042). Conclusions: Our research revealed that PTPN22 rs2488457 conferred strong susceptibility to uveitis in general, especially in Asian region. CTLA-4 rs231775 conveyed protection against uveitis in African populations and CTLA-4 rs4553808 displayed an increased risk of Behcet's disease.

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Study of association of CTLA4 gene variants to non‐anterior uveitis

Cited by 2 publications

References 25 publications

Correlation between CTLA4 genetic polymorphisms, its serum protein level and the susceptibility to recurrent spontaneous abortion

Correlation between CTLA4 genetic polymorphisms, its serum protein level and the susceptibility to recurrent spontaneous abortion

Meta-Analysis of the Genetic Association between <b><i>PTPN22</i></b> and <b><i>CTLA-4</i></b> Variants and Risk of Uveitis

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