Variants in CCL16 are associated with blood plasma and cerebrospinal fluid CCL16 protein levels

BMC Genomics. 2016 Jun 29;17 Suppl 3(Suppl 3):437. doi: 10.1186/s12864-016-2788-x.


Background: CCL16 is a chemokine predominantly expressed in the liver, but is also found in the blood and brain, and is known to play important roles in immune response and angiogenesis. Little is known about the gene's regulation.

Methods: Here, we test for potential causal SNPs that affect CCL16 protein levels in both blood plasma and cerebrospinal fluid in a genome-wide association study across two datasets. We then use METAL to performed meta-analyses with a significance threshold of p < 5x10(-8). We removed SNPs where the direction of the effect was different between the two datasets.

Results: We identify 10 SNPs associated with increased CCL16 protein levels in both biological fluids.

Conclusions: Our results will help understand CCL16's regulation, allowing researchers to better understand the gene's effects on human health.

Keywords: Association; Blood; Brain; CCL16; Cerebrospinal fluid; Genetics; Plasma.

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

  • Aged
  • Aged, 80 and over
  • Alleles
  • Alzheimer Disease / blood
  • Alzheimer Disease / cerebrospinal fluid
  • Alzheimer Disease / genetics
  • Chemokines, CC / blood
  • Chemokines, CC / cerebrospinal fluid
  • Chemokines, CC / genetics*
  • Gene Expression Regulation
  • Gene Frequency
  • Genome-Wide Association Study / methods*
  • Genotype
  • Humans
  • Linkage Disequilibrium
  • Meta-Analysis as Topic*
  • Middle Aged
  • Polymorphism, Single Nucleotide*


  • CCL16 protein, human
  • Chemokines, CC