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

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Strong Linkage Disequilibrium and Haplotype Association of Neovascular Age-related Macular Degeneration in Indonesian Patients

Author: Supanji Supanji ^{1
,

2
,

3} ; Ayudha Bahana Ilham Perdamaian ^{1
,

4} ; Izzati Amayazifun Khalifa Farzana ¹ ; Muhammad Bayu Sasongko ^{1
,

3} ; Angela Nurini Agni ^{1
,

3} ; Firman Setya Wardhana ^{1
,

3} ; Tri Wahyu Widayanti ^{1
,

3} ; Mohammad Eko Prayogo ^{1
,

3}
Author Information

1. Department of Ophthalmology, Faculty of Medicine Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia/ Dr. Sardjito General Hospital, Yogyakarta, Indonesia&
2. Ophthalmology Clinic, Military Air Force Central Hospital Dr. Suhardi Hardjolukito, Yogyakarta, Indonesia&
3. Ophthalmology Clinic, Dr. YAP Eye Hospital, Yogyakarta, Indonesia
4. Doctoral degree of Biomedical science, Faculty of Medicine Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia
Publication Type:Journal Article
Keywords: Age-related Macular Degeneration, linkage disequilibrium, HTRA1, ARMS2
From:Malaysian Journal of Medicine and Health Sciences 2023;19(No.2):138-144
CountryMalaysia
Language:English
Abstract: 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.
Full text:11.2023my1471.pdf