Identification of Gene Variations Associated with Diabetic Neuropathy Using Bioinformatics Approach

Siti Fatimah Sultan (1) , Adisti Putri Novriyanti (2) , Siti Rohmah (3) , Lalu Muhammad Irham (4) , Nanik Sulistyani (5) , Muhammad Ma'ruf (6)
(1) Universitas Ahmad Dahlan , Indonesia
(2) Universitas Ahmad Dahlan , Indonesia
(3) Universitas Ahmad Dahlan , Indonesia
(4) National Research and Innovation Agency , Indonesia
(5) Universitas Ahmad Dahlan , Indonesia
(6) Sekolah Tinggi Ilmu Kesehatan ISFI Banjarmasin , Indonesia

Abstract

Diabetic neuropathy is the most common complication of diabetes, experienced by almost 90% of diabetic patients. Pain is one of the most common symptoms of diabetic neuropathy, but the pathophysiologic mechanism of pain is not clearly known. The hypothesis of hyperglycemia toxicity to the development of pain complications has been widely accepted worldwide, but there are still other hypotheses proposed. The basic concept in the management of painful diabetic neuropathy is to exclude other causes of peripheral neuropathic pain, improve glycemic control for prophylactic therapy, and use drugs to reduce pain. Diabetic neuropathy variation data can be obtained from the Ensembl Genome Browser. Here, genes associated with 26 variants were selected according to Haploreg version 4.2. In addition, protein expression of missense gene variants was examined using the GTEx portal to determine two variants: rs55703767, which encodes the COL4A3 gene, and rs141560952, which encodes the DIS3L2 gene. According to data obtained from the Ensembl Genome Browser, the two most prevalent populations for SNP rs55703767, which is linked to the COL4A3 gene, are in Africa, while SNP rs141560952, which is linked to the DIS3L2 gene, is most prevalent in Africa, the Americas, East Asia, Europe, and South Asia.

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Authors

Siti Fatimah Sultan
sitifatimahsultan3@gmail.com (Primary Contact)
Adisti Putri Novriyanti
Siti Rohmah
Lalu Muhammad Irham
Nanik Sulistyani
Muhammad Ma'ruf
Author Biographies

Siti Fatimah Sultan, Universitas Ahmad Dahlan

Department of Pharmacy, Universitas Ahmad Dahlan, Yogyakarta, Special Region of Yogyakarta, Indonesia

Adisti Putri Novriyanti, Universitas Ahmad Dahlan

Department of Pharmacy, Universitas Ahmad Dahlan, Yogyakarta, Special Region of Yogyakarta, Indonesia

Siti Rohmah, Universitas Ahmad Dahlan

Department of Pharmacy, Universitas Ahmad Dahlan, Yogyakarta, Special Region of Yogyakarta, Indonesia

Lalu Muhammad Irham, National Research and Innovation Agency

Research Center for Pharmaceutical Ingredients and Traditional Medicine, National Research and Innovation Agency, South Tangerang, Banten, Indonesia
Department of Pharmacy, Universitas Ahmad Dahlan, Yogyakarta, Special Region of Yogyakarta, Indonesia

Nanik Sulistyani, Universitas Ahmad Dahlan

Department of Pharmacy, Universitas Ahmad Dahlan, Yogyakarta, Special Region of Yogyakarta, Indonesia

Muhammad Ma'ruf, Sekolah Tinggi Ilmu Kesehatan ISFI Banjarmasin

Department of Pharmacy, Sekolah Tinggi Ilmu Kesehatan ISFI Banjarmasin, Banjarmasin, South Kalimantan, Indonesia

1.
Sultan SF, Novriyanti AP, Rohmah S, Irham LM, Sulistyani N, Ma’ruf M. Identification of Gene Variations Associated with Diabetic Neuropathy Using Bioinformatics Approach. Borneo J Pharm [Internet]. 2026Mar.26 [cited 2026Mar.26];9(1). Available from: https://journal.umpr.ac.id/index.php/bjop/article/view/7148

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