Sains Malaysiana 52(3)(2023): 851-862

http://doi.org/10.17576/jsm-2023-5203-13

Investigation of Gene Variation among Non-Alcoholic Fatty Liver Disease Patients in Gaza Strip: A Preliminary Study

(Kajian Variasi Gen dalam Kalangan Pesakit Hati Berlemak Bukan Alkohol di Semenanjung Gaza: Suatu Kajian Awal)

ABEER AL-QATATI ¹, ALI AL-BELTAJI² & MAZEN ALZAHARNA^2,*

¹Clinical Laboratory Sciences Department, Faculty of Science, The University of Jordan, Amman, Jordan

²Medical Laboratory Sciences Dept., Faculty of Health Sciences, Islamic University of Gaza, P.O. Box 108, Gaza city, Palestine

Diserahkan: 18 Oktober 2022/Diterima: 7 Februari 2023

Abstract

The prevalent hepatic presentation of the metabolic syndrome is a non-alcoholic fatty liver disease (NAFLD), one of the most common types of chronic liver illnesses. Patients with NAFLD may develop liver damage depending on their genetic heritage. In this preliminary study, our main aim was to detect the genetic association of p85α (Met326Ile), PNPLA3 (C>G), IL28B275 (A>G), and IL28B860 (C>T) single nucleotide polymorphisms (SNPs) with steatosis and NASH in patients from Gaza Strip. We performed an SNP analysis by RFLP-PCR in 33 cases of steatosis and 28 cases of non-alcoholic steatohepatitis (NASH), in addition to 29 age- and sex-matched controls. We found that only the mutant T allele of IL28B860 was significantly associated with an increased risk of steatosis (P = 0.04). The other studied alleles and genotypes were not significantly associated with increased or decreased risk of steatosis, NASH, or combined steatosis or NASH groups. Among all of the studied variables (age, sex, diabetes, and BMI), only BMI was significantly associated with an increased risk of steatosis as well as NASH. A linkage disequilibrium analysis showed that the association between the two SNPs of IL28B860 and IL28B275 was significant. Having the TG haplotype increased the risk of steatosis by 2.97 fold and the risk of combined steatosis or NASH by 2.44 fold. This haplotype increased the risk of NASH, but the effect was not significant.

Keywords: NAFLD; NASH; preliminary study; single nucleotide polymorphism; steatosis

Abstrak

Persembahan hati yang lazim bagi sindrom metabolik ialah penyakit hati berlemak bukan alkohol (NAFLD), salah satu jenis penyakit hati kronik yang paling biasa. Pesakit dengan NAFLD mungkin mengalami kerosakan hati bergantung kepada warisan genetik mereka. Dalam kajian awal ini, matlamat utama kami adalah untuk mengesan perkaitan genetik p85α (Met326Ile), PNPLA3 (C> G), IL28B275 (A> G) dan IL28B860 (C> T) polimorfisme nukleotida tunggal (SNP) dengan steatosis dan NASH pada pesakit dari Semenanjung Gaza. Kami menjalankan analisis SNP dengan RFLP-PCR dalam 33 kes steatosis dan 28 kes steatohepatitis bukan alkohol (NASH), sebagai tambahan kepada 29 kawalan padanan umur dan jantina. Kami mendapati bahawa hanya alel T mutan IL28B860 dikaitkan dengan peningkatan risiko steatosis (P = 0.04). Kajian lain Alel dan genotip tidak dikaitkan dengan peningkatan atau penurunan risiko steatosis, NASH, atau gabungan steatosis atau kumpulan NASH. Antara semua pemboleh ubah yang dikaji (umur, jantina, diabetes dan BMI), hanya BMI dikaitkan dengan peningkatan risiko steatosis serta NASH. Analisis ketidakseimbangan kaitan menunjukkan bahawa perkaitan antara dua SNP IL28B860 dan IL28B275 adalah signifikan. Mempunyai haplotip TG meningkatkan risiko steatosis sebanyak 2.97 kali ganda dan risiko gabungan steatosis atau NASH sebanyak 2.44 kali ganda. Haplotip ini meningkatkan risiko NASH, tetapi kesannya tidak ketara.

Kata kunci: Kajian awal; NAFLD; NASH; polimorfisme nukleotida tunggal; steatosis

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^*Pengarang untuk surat-menyurat; email: mzaharna@iugaza.edu.ps