rs114313479 (ITGA4): Variant Research Summary

Key takeaways

• No direct published research on rs114313479 was included in the available evidence base.
• The provided study identified 84 blood metabolites significantly associated with age-related macular degeneration (AMD) in 72,376 UK Biobank participants; ITGA4 was not among the genes discussed.
• Very small VLDL (very low-density lipoprotein) depletion was identified as likely causal for AMD using Mendelian randomization; this finding relates to metabolite pathways, not to this specific variant.
• No drug response, tissue expression, or lifestyle findings for rs114313479 can be drawn from the provided studies.

What the research says The single study in the provided evidence base does not discuss rs114313479 or ITGA4. That study analyzed 325 blood metabolites in 72,376 UK Biobank participants (1,353 AMD cases, 71,023 controls) and found 84 metabolites significantly associated with AMD after false discovery rate correction (adjusted P < 0.05). Mendelian randomization conducted in 98,316 European participants identified 19 metabolites with likely causal roles in AMD, with depletion of circulating very small VLDL subclasses and medium-VLDL phospholipid-to-total-lipid ratio among the most notable findings.

Reported associations

• Age-related macular degeneration - lipoprotein subclasses: Among 84 AMD-associated metabolites identified in 72,376 UK Biobank donors, lipoprotein subclasses made up 39% of the group; this association is with circulating metabolite levels, not with rs114313479 directly.
• AMD causal risk - very small VLDL: Mendelian randomization in 98,316 European participants identified depletion of circulating very small VLDL subclasses (six VLDL-related lipoproteins and medium-VLDL phospholipid ratios) as likely causal for AMD; this variant was not examined in that analysis.

Note: Neither rs114313479 nor ITGA4 appears in the provided study. The associations above describe metabolite-level findings, not genotype-specific findings for this variant.

Evidence quality The provided study is a large observational and Mendelian randomization analysis in the UK Biobank (metabolite association N = 72,376; metabolite genome-wide association study N = 98,316 European participants). Significance was assessed at a false discovery rate-adjusted P < 0.05, and a machine learning classifier incorporating metabolites, age, and sex found age to be the primary predictive factor for AMD with a smaller contribution from metabolites. While the study is methodologically substantial, it does not address rs114313479 or ITGA4. No odds ratios, beta coefficients, or genotype-specific findings for this variant can be derived from the provided literature, and replication status for this variant is unknown. The evidence base for characterizing rs114313479 is therefore insufficient based on the available studies.

Lifestyle considerations No lifestyle considerations on file for this variant.