rs10998712 (HK1): Blood Biomarker Variant

Q: What is the HK1 gene?

HK1 stands for hexokinase 1, a gene that encodes an enzyme carrying out the first step of glycolysis, the process cells use to extract energy from glucose. It is especially important in red blood cells, which rely on glycolysis as their primary energy source.

Q: What blood tests is rs10998712 associated with?

rs10998712 is located in the HK1 gene region and was captured in a large study of 35 blood and urine biomarkers, including glycemic markers, lipids, and kidney and liver function tests. The specific biomarker most strongly linked to this variant is not detailed in the available study excerpt.

Q: How was rs10998712 discovered?

This variant was identified through a genome-wide association study of 363,228 UK Biobank participants, one of the largest analyses of blood and urine laboratory biomarkers conducted to date, with polygenic findings replicated in an independent Finnish cohort of 135,500 people.

Q: Is rs10998712 linked to diabetes or blood sugar?

HK1, the gene at this locus, plays a central role in glucose metabolism. The parent study examined glycemic biomarkers among 35 traits and showed that combined polygenic scores improved type 2 diabetes risk prediction. Whether rs10998712 specifically drives those diabetes associations is not stated in the available text.

Q: How reliable is the evidence for rs10998712?

The source study used strict statistical thresholds (p < 5 x 10-9) and over 363,000 participants, with polygenic findings replicated in an independent cohort of 135,500. Variant-specific effect sizes for rs10998712 are not available in the provided study excerpt, so the direct evidence quality for this variant alone cannot be fully assessed.

rs10998712 (HK1): Blood Biomarker Variant

Key takeaways

rs10998712 sits in the HK1 gene region, which encodes the enzyme cells use to begin breaking down glucose for energy
Identified in a UK Biobank study of 363,228 people measuring 35 blood and urine biomarkers
The study found 1,857 genetic loci associated with at least one blood or urine measurement
Polygenic scores from this study improved genetic risk prediction for type 2 diabetes, chronic kidney disease, gout, and alcoholic cirrhosis

Key takeaways

rs10998712 is a genetic variant in the HK1 (hexokinase 1) locus, identified through a large-scale genome-wide association study of blood and urine biomarkers
The study analyzed 363,228 UK Biobank participants and 35 laboratory measurements, finding 1,857 associated loci in total
HK1 encodes hexokinase 1, an enzyme involved in the first step of glucose breakdown (glycolysis) in cells, including red blood cells
Polygenic risk scores built from the overall study improved genetic risk stratification for type 2 diabetes, chronic kidney disease, gout, and alcoholic cirrhosis

What the research says A genome-wide analysis of 35 blood and urine laboratory measurements in 363,228 UK Biobank participants identified 1,857 loci with 3,374 fine-mapped associations spanning glycemic markers, lipids, kidney function tests, liver function tests, and blood count traits. The study included participants of White British (318,953), non-British White (23,582), African (6,019), South Asian (7,338), and East Asian (1,082) ancestry, and applied replication in the independent FinnGen cohort (n=135,500). Mendelian Randomization analysis, a statistical method that uses genetic variants as proxies to test whether a biomarker causally influences a disease outcome, identified 51 causal relationships between biomarkers and 40 medically relevant conditions. The provided study metadata does not include a PMID, so inline citations are omitted for this entry.

Reported associations

Blood and urine biomarkers: rs10998712 is located in the HK1 locus and was captured within the UK Biobank biomarker analysis covering 35 laboratory traits; the provided study excerpt does not specify which individual biomarker(s) showed the strongest association at this locus, nor the effect size for this variant specifically.
Disease-related biomarker pathways: The parent study found that polygenic score models built from the full set of identified loci improved risk prediction for chronic kidney disease, type 2 diabetes, gout, and alcoholic cirrhosis in the FinnGen replication cohort (n=135,500); whether this locus contributed to those disease models is not stated in the available text.

Evidence quality The source study applied stringent multiple-testing correction (Bonferroni-corrected p < 5 x 10-9 for assayed and imputed variants) and LD Score regression to check for population stratification artifacts; intercepts ranged from 0.999 to 1.137, consistent with well-controlled inflation. Heritability of the 35 biomarkers ranged from 0.6% (lipoprotein A) to 23.9% (IGF-1) under LD Score regression, and effect size estimates showed high agreement with 42 previously published study cohorts for 25 of the biomarkers. Variant-level effect sizes and individual replication status for rs10998712 are not reported in the available text excerpt, limiting a complete assessment of evidence strength for this specific variant.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is the HK1 gene?

HK1 stands for hexokinase 1, a gene that encodes an enzyme carrying out the first step of glycolysis, the process cells use to extract energy from glucose. It is especially important in red blood cells, which rely on glycolysis as their primary energy source.

What blood tests is rs10998712 associated with?

rs10998712 is located in the HK1 gene region and was captured in a large study of 35 blood and urine biomarkers, including glycemic markers, lipids, and kidney and liver function tests. The specific biomarker most strongly linked to this variant is not detailed in the available study excerpt.

How was rs10998712 discovered?

This variant was identified through a genome-wide association study of 363,228 UK Biobank participants, one of the largest analyses of blood and urine laboratory biomarkers conducted to date, with polygenic findings replicated in an independent Finnish cohort of 135,500 people.

Is rs10998712 linked to diabetes or blood sugar?

HK1, the gene at this locus, plays a central role in glucose metabolism. The parent study examined glycemic biomarkers among 35 traits and showed that combined polygenic scores improved type 2 diabetes risk prediction. Whether rs10998712 specifically drives those diabetes associations is not stated in the available text.

How reliable is the evidence for rs10998712?

The source study used strict statistical thresholds (p < 5 x 10-9) and over 363,000 participants, with polygenic findings replicated in an independent cohort of 135,500. Variant-specific effect sizes for rs10998712 are not available in the provided study excerpt, so the direct evidence quality for this variant alone cannot be fully assessed.

Expressive opens up early access