PKN2-AS1 - common variant at chromosome 8q24
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Key takeaways
- PKN2-AS1 is a common variant at chromosome 8q24
- The locus has been linked to liver enzyme concentrations in plasma [22001757]
- GTEx shows increased expression of KYAT3 with this allele [GTEx]
Key takeaways PKN2-AS1 is a common variant at chromosome 8q24. The locus has been linked to liver enzyme concentrations in plasma [22001757]. GTEx shows increased expression of KYAT3 with this allele [GTEx].
What the research says A genome-wide association study of 61 089 individuals identified 42 loci associated with plasma concentrations of ALT ALP GGT [22001757]. rs12145922 (PKN2-AS1) is a candidate gene at chromosome 8q24.
Reported associations
- Liver enzyme concentration: No direct association reported for rs12145922 to ALT, ALP or GGT [22001757].
Evidence quality The supplied studies involve 61 089 participants and use genome-wide significance thresholds of P < 1e-8 with Bonferroni correction; the rsid appears via this GWAS but is not directly associated with any liver enzyme trait. [22001757].
Tissue-specific expression effects
- KYAT3: increased expression in brain cortex, frontal cortex BA9, nucleus accumbens basal ganglia, cultured fibroblasts, testis, colon transverse, nerve tibial, skeletal muscle [GTEx]
No lifestyle considerations on file for this variant.
Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Lifestyle
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minimize alcohol consumption Moderate
GGT is particularly sensitive to alcohol; those with genetically elevated baseline GGT have compounded risk from alcohol exposure
Follow evidence-based alcohol guidelines; discuss individual safe intake with physician
Screening
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liver function tests (GGT, ALT, ALP) Moderate
This variant associates with elevated GGT, a marker of increased risk for cirrhosis, hepatocellular carcinoma, type 2 diabetes, and cardiovascular disease
Baseline measurement, then periodic monitoring per physician guidance
Frequently asked questions
What does the PKN2-AS1 variant do?
PKN2-AS1 is a common variant at chromosome 8q24 that has been associated with higher plasma levels of liver enzymes.
Is rs12145922 linked to liver disease?
The GWAS identified loci influencing liver enzyme concentrations but did not report a direct effect for rs12145922 on ALT ALP or GGT.
Does this variant affect gene expression?
GTEx data show increased expression of KYAT3 with the allele in several tissues including brain cortex and testis.