Rs3753394 Complement Factor H (CFH) Gene Polymorphism in Patients with Age-Related Macular Degeneration (AMD) in Indonesian Population

Supanji Supanji,Muhammad Bayu Sasongko,Angela Nurini Agni,Firman Setya Wardhana,Mohammad Eko Prayogo,Chio Oka,Ayudha Bahana Ilham Perdamaian,Dinda Ajeng Anindita ,Tri Wahyu Widayanti

doi:10.1051/bioconf/20214106001

Supanji Supanji, Muhammad Bayu Sasongko + Show 7 more

Open Access

https://doi.org/10.1051/bioconf/20214106001

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Abstract

Neovascular Age-related Macular Degeneration (nAMD) is one of the major factors for blindness and impaired visual acuity in elderly people. The aim of this study was CFH gene screening in Age-Related Macular Degeneration patients in Indonesia. This study was performed in 106 AMD patients and 104 controls for genomic markers in the Complement Factor H (CFH). The diagnosis of AMD was carried out by retinal specialists based on color fundus photography and optical coherence tomography. Informed consent was given to patients then proceed to blood sampling and recording of body parameters (BMI, smoking, other systemic diseases). CFH polymorphisms were then analyzed by PCR-restriction fragment length polymorphism (PCR-RFLP). There was no association between genetics polymorphism with nAMD. From the research can be inferred that association between genetics polymorphism with nAMD was insignificant.

Highlights

Neovascular Age-related macular degeneration was the serious risk factor in elderly people central sight loss in developed countries [1], [2] Approximately 200 millions people had AMD in 2020
Complement factor involved in immune cells recognition to infection and tissue injury sites.[16], [17]
Lampalizumab had no effect on the halting progression of drusen enlargement in severe dry AMD patients [18]

Summary

Introduction

Neovascular Age-related macular degeneration (nAMD) was the serious risk factor in elderly people central sight loss in developed countries [1], [2] Approximately 200 millions people had AMD in 2020. Polymorphism in complement gene family, in particular, were closely related to the AMD epidemiology and biology.[4], [6]–[15]. Complement was essentials part of innate immune system which involved in opsonizing, removing bacteria and death cell degradation. Complement factor involved in immune cells recognition to infection and tissue injury sites.[16], [17]. The significance factors of complement protein in AMD onset remains uncertain. A factor D inhibitor which inhibit of the alternative complement pathway activation, was fail in a phase III clinical trial. Lampalizumab had no effect on the halting progression of drusen enlargement in severe dry AMD patients [18]

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