rs11654428 - GPATCH8

Magnitude 2.2 · 1 study on file

Reported associations

• The FAM171A2 gene is a key regulator of progranulin expression and modifies the risk of multiple neurodegenerative diseases - Unknown journal (n.d.) · Unknown authors · PubMed 33087363

  ABSTRACT: The FAM171A2 gene is a key regulator of progranulin expression and modifies the risk of multiple neurodegenerative diseases. Progranulin (PGRN) is a secreted pleiotropic glycoprotein associated with the development of common neurodegenerative diseases. Understanding the pathophysiological role of PGRN may help uncover biological underpinnings. We performed a genome-wide association study to determine the genetic regulators of cerebrospinal fluid (CSF) PGRN levels. Common variants in region of FAM171A2 were associated with lower CSF PGRN levels (rs708384, P = 3.95 × 10−12). This was replicated in another independent cohort. The rs708384 was associated with increased risk of Alzheimer's disease, Parkinson's disease, and frontotemporal dementia and could modify the expression

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