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Genomic Copy Number Variations of the Complement Component C4B Gene Are Associated With Chronic Central Serous

Myrte B Breukink1, Rosa L Schellevis1, Camiel J F Boon2

  • 1Department of Ophthalmology Radboud University Medical Center, Nijmegen, the Netherlands.

Investigative Ophthalmology & Visual Science
|August 26, 2015
PubMed

Insights

Genomic copy number variations in complement component 4B (C4B) are linked to chronic central serous chorioretinopathy (cCSC). Absence of C4B increases cCSC risk, while three C4B copies are protective, suggesting complement system involvement.

Area of Science:

  • Ophthalmology
  • Immunogenetics
  • Complement System Biology

Background:

  • Chronic central serous chorioretinopathy (cCSC) is increasingly associated with genetic factors.
  • Previous research linked cCSC to variants in the complement factor H gene.
  • The role of the complement system in cCSC pathogenesis requires further investigation.

Purpose of the Study:

  • To investigate the association between genomic copy number variations (CNVs) of the complement component 4 gene (C4) and cCSC.
  • Specifically, to analyze C4A and C4B copy numbers in cCSC patients and healthy controls.

Main Methods:

  • Genomic DNA was analyzed from 197 cCSC patients and 303 healthy controls.
  • Taqman copy number determination assay was used to quantify C4A and C4B gene copy numbers.
  • Statistical analyses included Fisher exact test and logistic regression, with Bonferroni correction applied.

Main Results:

  • Significant differences in C4B copy numbers were observed between cCSC patients and controls (P = 0.0018).
  • Absence of C4B copy significantly increased cCSC risk (OR = 2.61, P = 0.039).
  • Three copies of C4B significantly decreased cCSC risk (OR = 0.45, P = 0.014).
  • No significant differences were found for C4A copy numbers or total C4 load.

Conclusions:

  • Copy numbers of C4B are significantly associated with the risk of developing cCSC.
  • The study reinforces the hypothesis implicating the complement system in the pathogenesis of cCSC.
  • C4B gene copy number variations represent a potential genetic risk factor for cCSC.
Abstract

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