Expressive

rs11257188 (PFKFB3): Genetic Variant Overview

Key takeaways

  • No confirmed associations for rs11257188 appear in the available research sources.
  • The available source study investigated bevacizumab-induced hypertension in breast cancer trials.
  • The primary finding from that study involved a different variant in SV2C, not PFKFB3.
  • More published evidence is needed before this variant's effects can be characterized.

Key takeaways

  • No confirmed associations for rs11257188 are present in the provided study sources.
  • The sole available source study investigated bevacizumab-induced hypertension in breast cancer trials.
  • The primary GWAS finding from the available study was a different variant (rs6453204 in SV2C), not PFKFB3.
  • More published evidence is needed before any associations for this variant can be described.

What the research says The only study provided examines genetic predictors of hypertension caused by bevacizumab - a monoclonal antibody targeting vascular endothelial growth factor - across two phase-III breast cancer trials (ECOG-5103 and ECOG-2100). That genome-wide association study (GWAS) identified rs6453204 in SV2C as the primary associated variant, linked to systolic blood pressure exceeding 160 mm Hg (odds ratio 3.3, p=6.0×10^-8 in the discovery cohort; validated at OR=2.4, p=0.037 in ECOG-2100). No findings for rs11257188 or PFKFB3 appear anywhere in the provided study text.

Reported associations

  • No associations reported: The provided study contains no findings specific to rs11257188 or PFKFB3. The source material addresses a distinct variant (rs6453204) in an unrelated gene (SV2C) in the context of bevacizumab-induced blood pressure changes.

Evidence quality The provided study is a GWAS conducted within two randomised phase-III trials, with germline DNA available from approximately 4,033 patients in ECOG-5103 and an independent validation cohort from ECOG-2100. Genotyping used Illumina BeadChip arrays (HumanOmni1-Quad and OmniExpress) with imputation to the 1000 Genomes Phase-I reference panel. These methodological strengths apply to the study's primary reported finding (rs6453204 in SV2C) only; rs11257188 is not addressed anywhere in the source material, and evidence quality for this specific variant therefore cannot be assessed from the data provided.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs11257188?

rs11257188 is a single-nucleotide polymorphism (SNP) - a position in the human genome where one DNA letter varies between people - near the PFKFB3 gene. Available research sources do not yet report confirmed associations for this specific variant.

Is rs11257188 linked to any disease or health condition?

Based on the study sources available, no associations between rs11257188 and any disease or health condition have been reported. The sole available study examined a different variant in the context of bevacizumab-related hypertension in breast cancer trials.

What is PFKFB3?

The provided study sources do not describe the function of PFKFB3. No PFKFB3-specific findings are reported in the research used to compile this entry.

What is a genome-wide association study (GWAS)?

A genome-wide association study (GWAS) scans hundreds of thousands of genetic variants across the entire genome to identify those that appear more often in people with a particular trait or condition. The available study used this approach to find genetic predictors of bevacizumab-induced hypertension, but did not report findings for rs11257188.