rs114507999 (ALPL): Alkaline Phosphatase Genetics
Key takeaways
- rs114507999 is in the ALPL gene, which controls alkaline phosphatase, an enzyme measured in routine liver and bone blood tests
- This variant was found in a UK Biobank study of over 363,000 people examining 35 blood and urine biomarkers
- The study identified more than 1,800 genomic regions linked to at least one biomarker, cross-validated against 42 previously published study cohorts
- Specific effect size data for rs114507999 is not reported in the available study text
Key takeaways
- rs114507999 is in the ALPL gene, which controls alkaline phosphatase, an enzyme measured in routine liver and bone blood tests
- This variant was found in a UK Biobank study of over 363,000 people examining 35 blood and urine biomarkers
- The study identified more than 1,800 genomic regions linked to at least one biomarker, cross-validated against 42 previously published study cohorts
- Specific effect size data for rs114507999 is not reported in the available study text
What the research says A genome-wide association study of 35 blood and urine biomarkers in the UK Biobank identified 1,857 loci associated with at least one trait across 363,228 participants from five population groups, with fine-mapping narrowing results to 3,374 associations. The study covered protein-truncating, protein-altering, and non-coding variants and compared effect sizes against 42 previously published study cohorts with high overall agreement. Liver function tests, the category that includes alkaline phosphatase encoded by the ALPL gene, were among the biomarker groups examined.
Reported associations
- Serum alkaline phosphatase levels: rs114507999, located in the ALPL (alkaline phosphatase, liver/bone/kidney) gene, is associated with alkaline phosphatase biomarker levels within this large-scale blood biomarker study; the provided study text does not report a specific effect size or beta coefficient for this variant
Evidence quality The underlying study included 363,228 UK Biobank participants with a meta-analysis covering 355,891 individuals across White British, non-British White, African, South Asian, and East Asian population groups. Genome-wide significance was set at a Bonferroni-corrected threshold of p < 5 x 10^-9 for imputed variants. LD score regression intercepts ranged from 0.999 to 1.137 across all 35 traits, confirming that population structure was well-controlled. Effect sizes were cross-validated against 42 external study cohorts with high overall agreement. However, the available study text does not report association statistics or an effect size specific to rs114507999, limiting assessment of this variant's individual contribution to alkaline phosphatase variance.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What does the ALPL gene do?
ALPL encodes tissue-nonspecific alkaline phosphatase, an enzyme involved in phosphate metabolism that is active in the liver, bones, and kidneys. Alkaline phosphatase levels are routinely measured in blood as part of liver function and bone health assessments.
What is rs114507999 associated with?
rs114507999 is a variant in the ALPL gene that has been studied in connection with alkaline phosphatase levels in the blood. It was identified as part of a large genome-wide association study of 35 blood and urine biomarkers in the UK Biobank involving over 363,000 participants.
How large was the study examining ALPL biomarker genetics?
The study analyzed genetic data from 363,228 UK Biobank participants across five population groups, with a meta-analysis of 355,891 individuals. It identified 1,857 genomic loci associated with at least one of 35 blood and urine biomarkers and cross-validated findings against 42 previously published study cohorts.
Is rs114507999 linked to liver disease?
The available study data focused on alkaline phosphatase as a blood biomarker level rather than as a predictor of specific disease outcomes. The study also conducted Mendelian Randomization analysis across 40 medical phenotypes, though whether liver disease was among them is not described in the provided text.
What is alkaline phosphatase and why do genetics influence it?
Alkaline phosphatase is an enzyme in the blood that clinicians measure to assess liver and bone health. Genetic variants in the ALPL gene can influence baseline alkaline phosphatase levels, which is relevant context for interpreting clinical lab results.