1.Strong Linkage Disequilibrium and Haplotype Association of Neovascular Age-related Macular Degeneration in Indonesian Patients
Supanji Supanji ; Ayudha Bahana Ilham Perdamaian ; Izzati Amayazifun Khalifa Farzana ; Muhammad Bayu Sasongko ; Angela Nurini Agni ; Firman Setya Wardhana ; Tri Wahyu Widayanti ; Mohammad Eko Prayogo
Malaysian Journal of Medicine and Health Sciences 2023;19(No.2):138-144
Introduction: The aim of this study was to investigate the linkage disequilibrium (LD) and haplotype of three most
associated SNP with nAMD of 80 patients in Indonesia. Methods: All patients underwent standard ophthalmic tests
including fundoscopy and optical coherence tomography. Genomic DNA was extracted using commercially available DNA isolation kits. Genotyping of rs11200638, rs1061170 and del443ins54 used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methods. The acquired genotype data were analyzed using
Haploview and R package software. Results: Linkage Disequilibrium analyses showed high LD value in the 10q26
region of 80 patients with AMD and 85 controls. The PCR-RFLP showed TTA was the most frequent haplotype while
GTG was the most associated haplotype in the study sample. Conclusion: There was a high LD in the 10q26 region
and strong association in GTG haplotype of Indonesian patients with AMD.
Result Analysis
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