A refined study of FCRL genes from a genome-wide association study for Graves' disease

PLoS One. 2013;8(3):e57758. doi: 10.1371/journal.pone.0057758. Epub 2013 Mar 7.

Abstract

To pinpoint the exact location of the etiological variant/s present at 1q21.1 harboring FCRL1-5 and CD5L genes, we carried out a refined association study in the entire FCRL region in 1,536 patients with Graves' disease (GD) and 1,516 sex-matched controls by imputation analysis, logistic regression, and cis-eQTL analysis. Among 516 SNPs with P<0.05 in the initial GWAS scan, the strongest signals associated with GD and correlated to FCRL3 expression were located at a cluster of SNPs including rs7528684 and rs3761959. And the allele-specific effects for rs3761959 and rs7528684 on FCRL3 expression level revealed that the risk alleles A of rs3761959 and C of rs7528684 were correlated with the elevated expression level of FCRL3 whether in PBMCs or its subsets, especially in CD19(+) B cells and CD8(+) T subsets. Next, the combined analysis with 5,300 GD cases and 4,916 control individuals confirmed FCRL3 was a susceptibility gene of GD in Chinese Han populations, and rs3761959 and rs7528684 met the genome-wide association significance level (P(combined) = 2.27×10(-12) and 7.11×10(-13), respectively). Moreover, the haplotypes with the risk allele A of rs3761959 and risk allele C of rs7528684 were associated with GD risk. Finally, our epigenetic analysis suggested the disease-associated C allele of rs7528684 increased affinity for NF-KB transcription factor. Above data indicated that FCRL3 gene and its proxy SNP rs7528684 may be involved in the pathogenesis of GD by excessive inhibiting B cell receptor signaling and the impairment of suppressing function of Tregs.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 1
  • Epigenesis, Genetic
  • Female
  • Gene Expression Profiling
  • Gene Frequency
  • Genome-Wide Association Study*
  • Graves Disease / genetics*
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci
  • Receptors, Fc / genetics*

Substances

  • FCRLA protein, human
  • Receptors, Fc

Grants and funding

This work was supported in part by the National Natural Science Foundation of China (30971595, 30971383, 81100553, 81200568, 81270863, and 31171127), National Basic Research Program of China (973) (2010CB529204 and 2012CB517604), Shanghai Science and Technology Committee (10JC1410400), Program for Graves’ Disease Innovative Research Team of Shanghai Municipal Education Commission, and Natural Science Foundation of Jiangsu Province, China (BK2009208 and SBK201221245). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.