Ophthalmology science · 2026
Associations of TNFRSF10A with Central Serous Chorioretinopathy, Polypoidal Choroidal Vasculopathy, and Age-Related Macular Degeneration.
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Chen Zhen Ji, Yu Jun, Ng Danny S C, Ho Mary, Zhu Xintian, Brelen Marten E, Young Alvin L, Yam Jason C, Tham Clement C, Pang Chi Pui, Chen Li Jia
Аннотация
PURPOSE: To investigate the role of tumour necrosis factor receptor superfamily member 10A (TNFRSF10A ) in chronic central serous chorioretinopathy (cCSCR), polypoidal choroidal vasculopathy (PCV), and neovascular age-related macular degeneration (nAMD).
DESIGN: Case-control genetic association study.
PARTICIPANTS: A total of 1478 Chinese participants were recruited, including 217 patients with cCSCR (174 without and 43 with macular neovascularization [MNV]), 288 patients with PCV, 341 patients with nAMD, and 632 healthy controls.
METHODS: Thirteen single-nucleotide polymorphisms (SNPs) in TNFRSF10A that covered both the promoter and coding regions were genotyped, including 12 haplotype-tagging SNPs and a manually selected reference SNP, rs13278062. Two variants showing significant deviation from Hardy-Weinberg equilibrium were excluded, leaving 11 SNPs for the final analysis. Logistic regression, adjusted for age and sex, was applied to assess both allelic and haplotype associations. Conditional analyses were conducted to evaluate independent effects. Single-nucleotide polymorphisms were annotated based on TNFRSF10A domains defined by UniProtKB.
MAIN OUTCOME MEASURES: Associations between individual SNPs and haplotypes in the TNFRSF10A with nAMD, PCV, and cCSCR (with or without MNV), respectively.
RESULTS: For cCSCR without MNV, 4 tagging SNPs showed significant associations: rs59693001 (odds ratio [OR] = 1.65, 95% confidence interval [CI]: 1.12 - 2.33; P = 0.0043), rs3808530 (OR = 1.91, 95% CI: 1.22 - 2.83; P = 0.0013), rs2235126 (OR = 1.74, 95% CI: 1.22 - 2.41; P = 7.50 × 10-4), and rs7814465 (OR = 1.66, 95% CI: 1.22 - 2.28; P = 0.0016). The reference SNP, rs13278062, also showed a significant association (OR = 1.81, 95% CI: 1.31 - 2.51; P = 3.64 × 10-4). In addition, 4 haplotypes within 2 blocks from a continuous region also showed significant associations. For PCV, only rs36005462 in an independent domain showed a marginally significant association (OR = 0.58; P = 0.0050). No significant association was identified for nAMD or cCSCR with MNV.
CONCLUSIONS: This study identified multiple TNFRSF10A variants associated with cCSCR without MNV, while a distinct protective SNP was linked to PCV. These findings provide preliminary evidence for varying TNFRSF10A association patterns across the pachychoroid disease spectrum.
FINANCIAL DISCLOSURES: The authors have no proprietary or commercial interest in any materials discussed in this article.
DESIGN: Case-control genetic association study.
PARTICIPANTS: A total of 1478 Chinese participants were recruited, including 217 patients with cCSCR (174 without and 43 with macular neovascularization [MNV]), 288 patients with PCV, 341 patients with nAMD, and 632 healthy controls.
METHODS: Thirteen single-nucleotide polymorphisms (SNPs) in TNFRSF10A that covered both the promoter and coding regions were genotyped, including 12 haplotype-tagging SNPs and a manually selected reference SNP, rs13278062. Two variants showing significant deviation from Hardy-Weinberg equilibrium were excluded, leaving 11 SNPs for the final analysis. Logistic regression, adjusted for age and sex, was applied to assess both allelic and haplotype associations. Conditional analyses were conducted to evaluate independent effects. Single-nucleotide polymorphisms were annotated based on TNFRSF10A domains defined by UniProtKB.
MAIN OUTCOME MEASURES: Associations between individual SNPs and haplotypes in the TNFRSF10A with nAMD, PCV, and cCSCR (with or without MNV), respectively.
RESULTS: For cCSCR without MNV, 4 tagging SNPs showed significant associations: rs59693001 (odds ratio [OR] = 1.65, 95% confidence interval [CI]: 1.12 - 2.33; P = 0.0043), rs3808530 (OR = 1.91, 95% CI: 1.22 - 2.83; P = 0.0013), rs2235126 (OR = 1.74, 95% CI: 1.22 - 2.41; P = 7.50 × 10-4), and rs7814465 (OR = 1.66, 95% CI: 1.22 - 2.28; P = 0.0016). The reference SNP, rs13278062, also showed a significant association (OR = 1.81, 95% CI: 1.31 - 2.51; P = 3.64 × 10-4). In addition, 4 haplotypes within 2 blocks from a continuous region also showed significant associations. For PCV, only rs36005462 in an independent domain showed a marginally significant association (OR = 0.58; P = 0.0050). No significant association was identified for nAMD or cCSCR with MNV.
CONCLUSIONS: This study identified multiple TNFRSF10A variants associated with cCSCR without MNV, while a distinct protective SNP was linked to PCV. These findings provide preliminary evidence for varying TNFRSF10A association patterns across the pachychoroid disease spectrum.
FINANCIAL DISCLOSURES: The authors have no proprietary or commercial interest in any materials discussed in this article.