Association of CFH rs1061170 (Y402H), C2 rs9332739 (E318D), and C3 rs2230199 (R102G) gene polymorphism with age-related macular degeneration: an integrative systematic review, meta-analysis, and in-silico approach

B S 1 , Thanigai Arasu A 2 , Ravichandar S 3 , Ganapathy P 4 , Rajagopal RE 5 , Murali U 6 Show all authors , M K 7 , R P 8 , Subbaraj GK 9

Affiliations 

  • 1 Department of Biochemistry and Bioinformatics, Dr MGR Janaki College for Women, Chennai, India
  • 2 Department of Anatomy, Karpaga Vinayaga Institute of Medical Sciences and Research Centre, Chengalpattu, India
  • 3 Department of Respiratory Medicine, SRM Medical College Hospital and Research Center, Chengalpattu, India
  • 4 Department of Physiology, Sree Balaji Medical College and Hospital, Chennai, India
  • 5 Multi Disciplinary Research Unit, Tirunelveli Medical College, Tirunelveli, India
  • 6 Department of Surgery, Manipal University College Malaysia, Melaka, Malaysia
  • 7 Department of Microbiology, Faculty of Medicine, Quest International University Perak, Ipoh, Malaysia
  • 8 Department of Biochemistry, Vels Institute of Science, Technology and Advanced Studies, Chennai, India
  • 9 Saveetha Institute of Basic Medical Sciences (SIBMS), Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, India
Ophthalmic Genet, 2026 Oct 30.
PMID: 42960599 DOI: 10.1080/13816810.2026.2749870

Abstract

BACKGROUND: Age-related macular degeneration (AMD) is a progressive retinal disorder and a major cause of irreversible blindness in the elderly, with complement pathway dysfunction playing a key role in its pathogenesis.

METHODS: The present aims to examine the impact of CFH rs1061170 (Y402H), C2 rs9332739 (E318D), and C3 rs2230199 (R102G) gene polymorphisms and AMD risk, in addition, Deleterious missense SNPs in CFH, C2, and C3 were analyzed for stability, conservation, and structural impact using multiple computational approaches. Relevant studies were searched in PubMed, Web of Science, and Google Scholar databases between the years Jan 2020 and 30 April 2026 and covered a total of nine case-control articles.

RESULTS: Meta-analysis demonstrated significant associations of CFH rs1061170 and C3 rs2230199 polymorphisms with AMD susceptibility under specific genetic models (p 

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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