rs10122014 PHF2: increased CSF sTREM-2

Key takeaways

• CSF sTREM-2 levels are higher with this variant
• The gene shows increased expression in several tissues
• This is a common variant not linked to disease

What the research says This variant is associated with higher cerebrospinal fluid sTREM-2 levels, reported effect size 1520.45 p=4e-6 in about 1 thousand individuals [31708768].

Reported associations

• CSF sTREM-2 levels: the variant is linked to higher levels with a reported effect size of 1520.45 and p=4e-6 [31708768].
• gene expression: GTEx shows increased expression in pituitary, brain cortex, testis, thyroid, caudate basal ganglia, EBV transformed lymphocytes, adipose subcutaneous, skin suprapubic [GTEx].

Evidence quality The supplied studies do not report a direct trait association for this variant; the rsid appears via GWAS Catalog association. The effect size is 1520.45 p=4e-6 in about 1 thousand individuals.

Tissue-specific expression effects

• Pituitary: increased expression
• Brain_Cortex: increased expression
• Testis: increased expression
• Thyroid: increased expression
• Brain_Caudate_basal_ganglia: increased expression
• Cells_EBV-transformed_lymphocytes: increased expression
• Adipose_Subcutaneous: increased expression
• Skin_Not_Sun_Exposed_Suprapubic: increased expression [GTEx].

Lifestyle considerations No lifestyle considerations on file for this variant.