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Detecting Abnormalities in Choroidal Vasculature in a Mouse Model of Age-related Macular Degeneration by Time-course Indocyanine Green Angiography
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Detecting Abnormalities in Choroidal Vasculature in a Mouse Model of Age-related Macular Degeneration by Time-course Indocyanine Green Angiography

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SERPING1 polymorphisms in polypoidal choroidal vasculopathy

Meng Li1, Feng Wen, Chengguo Zuo

  • 1State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.

Molecular Vision
|February 18, 2010
PubMed

Insights

Common genetic variants in the SERPING1 gene are not associated with polypoidal choroidal vasculopathy (PCV) in the Chinese Han population. This study found no evidence linking SERPING1 variants to PCV susceptibility.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Polypoidal choroidal vasculopathy (PCV) is a significant cause of vision loss.
  • The genetic factors contributing to PCV susceptibility require further investigation.
  • The complement component 1 inhibitor gene (SERPING1) is a potential candidate for genetic association studies in PCV.

Purpose of the Study:

  • To investigate the association between common genetic variants in the SERPING1 gene and PCV.
  • To determine if specific single nucleotide polymorphisms (SNPs) or haplotypes in SERPING1 are risk factors for PCV in a Chinese Han population.

Main Methods:

  • Genotyping of four tag SNPs (rs2509897, rs1005510, rs11603020, rs2511989) in the SERPING1 gene was performed using PCR restriction fragment length polymorphism and DNA sequencing.
  • A cohort of 118 PCV patients and 115 healthy controls from the Chinese Han population was analyzed.
  • Haplotype analysis was conducted across the SERPING1 gene.

Main Results:

  • No significant association was found between any of the four tag SNPs in SERPING1 and PCV (p=0.41-0.83).
  • Evaluation of common haplotypes within the SERPING1 gene also did not reveal any association with PCV (p=0.49-0.82).
  • The previously reported age-related macular degeneration-related risk factor SNP, rs2511989, showed no association with PCV in this cohort.

Conclusions:

  • This study found no evidence to support the role of common SERPING1 gene variants in the susceptibility to PCV.
  • The investigated SERPING1 variants, including rs2511989, do not appear to be major genetic risk factors for PCV in the Chinese Han population.
Abstract

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