Genome-wide association study of prolactin levels in blood plasma and cerebrospinal fluid

BMC Genomics. 2016 Jun 29;17 Suppl 3(Suppl 3):436. doi: 10.1186/s12864-016-2785-0.


Background: Prolactin is a polypeptide hormone secreted by the anterior pituitary gland that plays an essential role in lactation, tissue growth, and suppressing apoptosis to increase cell survival. Prolactin serves as a key player in many life-critical processes, including immune system and reproduction. Prolactin is also found in multiple fluids throughout the body, including plasma and cerebrospinal fluid (CSF).

Methods: In this study, we measured prolactin levels in both plasma and CSF, and performed a genome-wide association study. We then performed meta-analyses using METAL with a significance threshold of p < 5 × 10(-8) and removed SNPs where the direction of the effect was different between the two datasets.

Results: We identified 12 SNPs associated with increased prolactin levels in both biological fluids.

Conclusions: Our efforts will help researchers understand how prolactin is regulated in both CSF and plasma, which could be beneficial in research for the immune system and reproduction.

Keywords: Association; CSF; Genetics; Plasma; Prolactin.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alzheimer Disease / blood
  • Alzheimer Disease / cerebrospinal fluid
  • Alzheimer Disease / genetics
  • Biomarkers / blood
  • Biomarkers / cerebrospinal fluid
  • Calcium-Calmodulin-Dependent Protein Kinases / genetics
  • Female
  • Gene Frequency
  • Genome-Wide Association Study / methods*
  • Genotype
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Linear Models
  • Linkage Disequilibrium
  • Meta-Analysis as Topic
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Prolactin / blood*
  • Prolactin / cerebrospinal fluid*
  • Sulfotransferases / genetics


  • Biomarkers
  • Intracellular Signaling Peptides and Proteins
  • Prolactin
  • Calcium-Calmodulin-Dependent Protein Kinases
  • TRIB2 protein, human
  • SULF1 protein, human
  • Sulfotransferases