POLIMORFISME GEN ALKOHOL DEHIDROGENASE 2 (ADH2) DAN EFEKNYA PADA SEL GINJAL SUKU JAWA DI YOGYAKARTA

NATHANIA CHRISTI P K, DR. Dra. Suhartini, Apt., SU; dr. Yudha Nurhantari, Ph.D., Sp. F

2020 | Skripsi | S1 KEDOKTERAN

Latar Belakang: Alkohol diproduksi tubuh dari hasil fermentasi karbohidrat oleh mikrobiota usus dan respirasi anaerob. Proses metabolisme alkohol di hati dengan enzim Alkohol Dehidrogenase 2 (ADH1B) mengoksidasi etanol menjadi asetaldehid (toksik). Pada beberapa penelitian, didapatkan peran polimorfisme gen ADH2 berpengaruh terhadap fungsi organ. Produk asetaldehid yang tidak segera dikeluarkan tubuh akan menumpuk dan dapat merusak sel ginjal. Sebagai salah satu faktor risiko penyakit, perlu penelitian polimorfisme gen ADH2 suku Jawa dan efeknya pada sel ginjal. Tujuan: Mengetahui variasi gen ADH2 dan efeknya pada sel ginjal bukan peminum alkohol suku Jawa di Yogyakarta. Metode: Sampel darah didapatkan dari subjek setelah informed consent. Pengolahan data sampel melalui ekstraksi DNA, amplifikasi DNA, restriksi enzim dengan MaeIII, dan elektroforesis. Pemeriksaan BUN Kreatinin dan eGFR dengan metode Jaffe dan �Urease-GLDH� enzymatic UV test menilai fungsi ginjal. Polimorfisme gen ADH2 dengan analisis cross sectional deskriptif, korelasi polimorfisme gen ADH2 dan efeknya pada sel ginjal dengan Chi-square Test. Hasil: Populasi bukan peminum alkohol suku Jawa terdiri atas 5,1% pemilik tipe variasi enzim ADH2*1/ADH2*1, 57,6% pemilik tipe variasi enzim ADH2*1/ADH2*2, dan 37,3% pemilik tipe variasi enzim ADH2*2/ADH2*2. Sebanyak 88,1% populasi memiliki fungsi ginjal baik yang dinilai dari hasil kreatinin dan eGFR. Tidak ditemukan adanya perbedaan signifikan secara statistik (nilai P > 0,05) antara variasi genetik enzim ADH2 pada bukan peminum alkohol suku Jawa di Yogyakarta dengan fungsi sel ginjal. Kesimpulan: Ditemukan tiga jenis tipe variasi genetik enzim ADH2 pada populasi suku Jawa dengan frekuensi tipe gen ADH2*1/*2 (57,6%) paling banyak. Tidak ditemukan adanya korelasi antara variasi gen enzim ADH2 dan fungsi sel ginjal pada bukan peminum alkohol suku Jawa di Yogyakarta secara statistik (nilai P > 0,05).

Background: Alcohol is produced inside the body as the result of carbohydrate fermentation by intestinal microorganisms and anaerobic respiration. Liver is the main organ for alcohol metabolism, alcohol dehydrogenase 2 (ADH1B) oxidizes ethanol into acetaldehyde (toxic). Previous studies showed that there is some correlation between ADH2 genetic polymorphism and organ function. Acetaldehyde which is not excreted right away from the body will accumulate and damage kidney cells. As one of the disease risk factors, the effect of ADH2 genetic polymorphism on kidney cells in Javanese people needs further study. Objective: To analyze ADH2 genetic variation in non-alcoholic Javanese people and its effects on kidney cells. Method: Blood samples were collected after the subject had signed the informed consent. The data then was processed through DNA extraction, DNA amplification, enzyme restriction with MaeIII, and electrophoresis. BUN Creatinine and eGFR were obtained using Jaffe method and �Urease-GLDH� Enzymatic UV test to evaluate kidney cells function. ADH2 genetic polymorphism was analyzed using a cross-sectional descriptive test, meanwhile its effect on kidney cells was analyzed using Chi-square Test. Result: Among non-alcoholic Javanese population there are 5.1% people with ADH2*1/*1 gene type, 57.6% with ADH2*1/*2 gene type, and 37.3% with ADH2*2/*2 gene type. Right amount 88.1% of the population have good kidney function and there is no significant correlation (P value > 0.05) between ADH2 genetic variations and kidney cells function in non-alcoholic Javanese population in Yogyakarta. Conclusion: This study shows that there are three ADH2 enzyme genetic variations, ADH*1/ADH2*2 (57.6%) is the most frequent gene variant. There was no correlation between ADH2 genetic variations and kidney cells function in non- alcoholic Javanese population in Yogyakarta statistically (P value > 0.05).

Kata Kunci : Alkohol, ADH2, polimorfisme genetik, ginjal, eGFR, Alcohol, ADH2, genetic polymorphism, kidney