Prevalence and cardiometabolic correlates of ketohexokinase gene variants among UK Biobank participants

PLoS One. 2021 Feb 23;16(2):e0247683. doi: 10.1371/journal.pone.0247683. eCollection 2021.

Abstract

Essential fructosuria (EF) is a benign, asymptomatic, autosomal recessive condition caused by loss-of-function variants in the ketohexokinase gene and characterized by intermittent appearance of fructose in the urine. Despite a basic understanding of the genetic and molecular basis of EF, relatively little is known about the long-term clinical consequences of ketohexokinase gene variants. We examined the frequency of ketohexokinase variants in the UK Biobank sample and compared the cardiometabolic profiles of groups of individuals with and without these variants alone or in combination. Study cohorts consisted of groups of participants defined based on the presence of one or more of the five ketohexokinase gene variants tested for in the Affymetrix assays used by the UK Biobank. The rs2304681:G>A (p.Val49Ile) variant was present on more than one-third (36.8%) of chromosomes; other variant alleles were rare (<1%). No participants with the compound heterozygous genotype present in subjects exhibiting the EF phenotype in the literature (Gly40Arg/Ala43Thr) were identified. The rs2304681:G>A (p.Val49Ile), rs41288797 (p.Val188Met), and rs114353144 (p.Val264Ile) variants were more common in white versus non-white participants. Otherwise, few statistically or clinically significant differences were observed after adjustment for multiple comparisons. These findings reinforce the current understanding of EF as a rare, benign, autosomal recessive condition.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles*
  • Biological Specimen Banks
  • Female
  • Fructokinases / deficiency
  • Fructokinases / genetics*
  • Fructose Metabolism, Inborn Errors
  • Genetic Variation*
  • Genotype
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Phenotype
  • United Kingdom

Substances

  • Fructokinases
  • ketohexokinase

Supplementary concepts

  • Fructosuria

Grants and funding

This study was funded by Eli Lilly and Co (https://www.lilly.com/). Eli Lilly provided financial support in the form of salaries for JJ, DN, PB, SC, YC and JM. The specific roles of these authors are articulated in the author contributions. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.