rs118037557 (BCL2L14): Genetic Variant Overview

Key takeaways

• The provided studies do not report a direct genetic association for rs118037557
• A UK Biobank analysis of 72,376 donors found 84 metabolites linked to age-related macular degeneration (AMD) risk
• Very small VLDL depletion was identified as likely causal for AMD via Mendelian randomization
• Age is the strongest predictor of AMD; metabolites added a smaller predictive role in this cohort

What the research says The single study supplied covers blood metabolite associations with AMD and does not report genetic data for rs118037557 or reference the BCL2L14 gene. That study analyzed 325 metabolites in 72,376 UK Biobank donors (1,353 AMD cases and 71,023 controls), identifying 84 markers significantly associated with AMD at a false discovery rate-adjusted threshold. Using a two-sample Mendelian randomization approach (a statistical method that uses genetic variants as proxies to infer whether an exposure causes an outcome), the researchers identified depletion of circulating very small VLDL subclasses as likely causally involved in AMD development, with age remaining the dominant predictive variable and metabolites contributing a smaller share of AMD risk prediction.

Reported associations No direct associations for rs118037557 are reported in the provided studies. The study examines metabolite-level predictors of AMD; its findings are listed below as contextual background only.

• Age-related macular degeneration (contextual, not attributed to rs118037557): Among 1,353 AMD cases and 71,023 controls in the UK Biobank (n = 72,376), 84 of 325 analyzed metabolites were significantly associated with AMD (false discovery rate-adjusted P < 0.05). Lipoprotein subclasses represented 39% of those associations. Nineteen metabolites showed likely causative involvement via Mendelian randomization, with very small VLDL depletion highlighted as the key lipoprotein signal. These findings describe metabolite levels in a general population cohort and are not attributed to this variant in the provided text.

Evidence quality The available evidence comes from a single large observational and Mendelian randomization study using UK Biobank data (total n = 72,376, AMD cases = 1,353, GWAS subset = 98,316 European participants). Metabolite associations were evaluated at a false discovery rate threshold across 325 metabolites, and causal inference used a two-sample Mendelian randomization framework. The study does not provide genetic association data for rs118037557, and no replication studies specific to this variant were included in the provided materials. Evidence quality for this particular variant cannot be assessed from the supplied study; all findings summarized here apply to metabolite levels in the general cohort, not to a specific genotype.

Lifestyle considerations No lifestyle considerations on file for this variant.