rs10821163 PHF2 PTSD risk and expression changes

Key takeaways

• PTSD risk linked to the variant
• Reduced expression in brain cerebellum and thyroid tissue
• Increased expression in colon transverse, esophagus mucosa, visceral omentum, skeletal muscle
• Reduced expression in skin sun exposed lower leg

What the research says The GWAS Catalog shows rs10821163 is associated with PTSD risk, with a reported effect size of 7.25 and p=4e-13 in about 1.3 million individuals [PMID 38637617]. GTEx expression data indicate reduced expression in brain cerebellum and thyroid tissue GTEx Portal.

Reported associations

• PTSD: the variant is associated with higher risk, effect size 7.25 p=4e-13 [PMID 38637617].

Evidence quality The evidence is based on a single GWAS Catalog association in about 1.3 million individuals with effect size 7.25 and p=4e-13 [PMID 38637617]. No replication data are provided, so the finding remains preliminary.

Tissue-specific expression effects

• PHF2: reduced expression in brain cerebellum and thyroid tissue GTEx Portal
• FAM120AOS: increased expression in colon transverse, esophagus mucosa, visceral omentum, and skeletal muscle GTEx Portal
• WNK2: reduced expression in skin sun exposed lower leg GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.