Expressive

rs11153718 (SLC35F1): Anti-VEGF Response in DME

Key takeaways

  • SLC35F1 was flagged in a genome-wide study as a candidate gene for predicting anti-VEGF treatment response in diabetic macular edema.
  • The association is preliminary and did not reach the conventional genome-wide significance threshold.
  • The study was conducted only in a Korean diabetic population, so generalizability to other groups is unknown.
  • About 30% of diabetic macular edema patients do not respond to anti-VEGF therapy, driving interest in genetic predictors of treatment outcome.

Key takeaways

  • SLC35F1 was flagged in a genome-wide study as a candidate gene for predicting anti-VEGF treatment response in diabetic macular edema.
  • The association is preliminary and did not reach the conventional genome-wide significance threshold.
  • The study was conducted only in a Korean diabetic population, so generalizability to other groups is unknown.
  • About 30% of diabetic macular edema patients do not respond to anti-VEGF therapy, driving interest in genetic predictors of treatment outcome.

What the research says A prospective genome-wide association study (GWAS) enrolled Korean patients with diabetic macular edema (DME) - a complication of diabetes in which fluid leaks into the macular region of the retina, causing vision-threatening swelling - and classified them as good or poor responders to three monthly intravitreal anti-VEGF injections (drugs that block vascular endothelial growth factor, a protein that promotes abnormal blood vessel growth). SLC35F1 (solute carrier family 35 member F1) was one of eight genes showing a suggestive association with treatment response at p < 5.0 × 10^-5; this threshold falls below the conventional genome-wide significance cutoff of p < 5 × 10^-8, meaning this is a preliminary signal. The study's strongest signals came from variants in DIRC3 (rs16857280, p = 1.2 × 10^-6), SLCO3A1 (rs12899055, p = 2.5 × 10^-6), and RAB2A (rs2272620, p = 4.6 × 10^-6) - not from the SLC35F1 locus.

Reported associations

  • Anti-VEGF treatment response in diabetic macular edema: The SLC35F1 locus was associated with whether Korean patients with DME maintained a stable macular response after monthly intravitreal injections versus experiencing recurrence within six months (p < 5.0 × 10^-5). No separate odds ratio or beta coefficient for this locus was reported in the available text.

Evidence quality The sole source for this entry is a single-center prospective GWAS (Scientific Reports, 2023; Hong EH et al.) of Korean patients with type 2 diabetes and DME, recruited from Hanyang University Guri Hospital between May 2016 and August 2017. The SLC35F1 association did not reach conventional genome-wide significance (p < 5 × 10^-8); the reported threshold of p < 5.0 × 10^-5 is considered suggestive only. No replication cohort was described, no independent study confirming this association was provided, and the single-ancestry design limits generalizability. Overall, the evidence for this locus is weak and preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is SLC35F1 and why is it linked to eye disease?

SLC35F1 (solute carrier family 35 member F1) is a gene that showed a suggestive association with anti-VEGF treatment response in diabetic macular edema in a 2023 genome-wide study. Its precise biological role in this process has not been established in the available research.

Is rs11153718 linked to diabetic macular edema treatment response?

A 2023 GWAS found a suggestive association between the SLC35F1 gene region and anti-VEGF treatment response in diabetic macular edema, but the finding did not reach genome-wide significance and has not been independently replicated.

How strong is the evidence connecting rs11153718 to anti-VEGF outcomes?

The evidence is weak and preliminary. The association came from a single-center study in a Korean diabetic population, reached only suggestive significance (p < 5.0 × 10^-5 rather than the conventional p < 5 × 10^-8), and has not been replicated in an independent cohort.

What is diabetic macular edema?

Diabetic macular edema is a complication of diabetes in which fluid leaks into the macular region of the retina, causing swelling that can impair central vision. It is a leading cause of adult-onset blindness worldwide.

Why do some patients not respond to anti-VEGF eye injections?

Roughly 30% of diabetic macular edema patients do not respond to anti-VEGF therapy. Researchers believe complex mechanisms - including genetic variation and inflammation - affect who benefits from this treatment, which is why genetic studies like GWAS are being pursued.