Association between rs738409 and rs2896019 polymorphisms of PNPLA3 and  metabolic dysfunction-associated steatotic liver disease

Dolgion D; Yumchinsuren Ts; Yesukhei E; Baljinnyam T; Enkhmend Kh; Otgongerel N; Gantogtokh D; Ganchimeg D; Batbold B; Davaadorj D; Khurelbaatar N; Tulgaa L

Return

Association between rs738409 and rs2896019 polymorphisms of PNPLA3 and metabolic dysfunction-associated steatotic liver disease

VernacularTitle:Бодисын солилцооны алдагдлын шалтгаант элэг өөхлөх өвчний үед PNPLA3 генийн rs738409, rs2896019 полиморфизмын илрэлийг судалсан дүн
Author: Dolgion D ^{1
,

2} ; Yumchinsuren Ts ¹ ; Yesukhei E ¹ ; Baljinnyam T ³ ; Enkhmend Kh ¹ ; Otgongerel N ¹ ; Gantogtokh D ¹ ; Ganchimeg D ¹ ; Batbold B ¹ ; Davaadorj D ² ; Khurelbaatar N ⁴ ; Tulgaa L ¹
Author Information

1. Institute of Medical Sciences
2. Department of Gastroenterology, School of Medicine, MNUMS
3. School of Biomedicine, MNUMS
4. School of Medicine, MNUMS
Publication Type:Journal Article
Keywords: NALFD; MASLD; RFLP – PCR; risk of steatosis
From:Mongolian Medical Sciences 2024;209(3):3-11
CountryMongolia
Language:Mongolian
Abstract: Introduction:The prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD) has increased significantly over the last three decades worldwide, from 17.6% in 1990 to 23.4% in 2019. The development of this disease depends on many risk factors, including genetics, lifestyle, and environment. The PNPLA3 (patatin-like phospholipase domain-containing protein 3) gene is the most relevant genetic factor influencing the risk of metabolic dysfunction-associated steatotic liver disease. The PNPLA3 rs738409 GG genotype impairs adiponutrin function, accumulating triglyceride in liver cells and forming small fat droplets within the liver.
Aim:To determine rs738409 and rs2896019 single nucleotide polymorphisms of the PNPLA3 gene in metabolic dysfunction-associated steatotic liver disease and their correlation with some parameters of anthropometric and laboratory tests.
Materials and Methods:This study was conducted with a case-control design in 2023–2024. There were 150 participants in the study, 50 in the control group without MASLD, and 100 in the case group with MASLD. The PNPLA3 (rs738409, rs2896019) gene’s single nucleotide polymorphism was identified by the RFLP-PCR technique. All statistical analysis was performed using SPSS 23 software. Categorical variables were described by numbers and percentages, and the numerical variables were characterized by the median (min and max) for the normal distribution, and mean± standard deviation for the non-normal distribution. The statistical tests utilized were the Chi-square test, Fisher’s exact test, student t-test, and Mann–Whitney test. Ethical approval for the survey was obtained from the Medical Ethics Committee under the Ministry of Health Of Mongolia in January 2023.
Results:The participants’ average age was 46.73±11.45, with 60% being women (90) and 40% being men (60). Among all patients, the PNPLA3 gene’s single nucleotide polymorphism rs738409 revealed 44.7% (67) CC, 54.7% (82) GC, and 0.7% (1) GG (OR-CG+GG genotype- 2.9, p=0.003). In addition, as a result of determining the PNPLA3 gene rs2896019 single nucleotide polymorphism, the frequency of the TT genotype was significantly higher in the control group than in the case group (48%, 31%, p = 0.042).
Conclusion:The frequency of CG/GG genotypes rs738409, and rs2896019 of the PNPLA3 gene is higher in the case group, suggesting that they may be more susceptible to MASLD.
Full text:2025060516050792225MMS-2024-209(3)-3-11.pdf