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RELEVANCE OF PNPLA3, TM6SF2, HSD17B13, AND GCKR GENOTYPES TO THE RISK OF NAFLD IN AN EGYPTIAN POPULATION

Nehal Elmansoury 1, Ahmed Kamal 1, Marina Labane 1, Manal Abdel-Magiud 1, Ann K. Daly 2, Ahmed Wahid 1

Affiliations

1 Alexandria University, Alexandria, Egypt

2 Newcastle University, Newcastle, United Kingdom

Summary

AI Generated

A genetic study of 205 Egyptian NAFLD patients and 187 controls identifies PNPLA3 rs738409 and GCKR rs1260326 variants as risk factors for NAFLD and fibrosis, while HSD17B13 rs9992651 may be protective against fibrosis.

PNPLA3 rs738409 GG carriers had 5.296 times higher risk of NAFLD than CC carriers, and 9.267 times higher risk of fibrotic NAFLD after adjusting for age, gender, BMI, and waist circumference.
GCKR rs1260326 variant T allele acquired statistical significance for NAFLD risk and fibrosis progression after correction for other risk factors.
HSD17B13 rs9992651 variant A allele showed protective effect against fibrosis, with GA carriers having 0.487 times lower fibrosis risk than GG carriers.
TM6SF2 rs58542926 did not show statistical significance for NAFLD or fibrosis risk in univariate or adjusted analyses in this Egyptian population.
Clinicians and researchers interested in genetic risk stratification for NAFLD and fibrosis progression in Middle Eastern or Egyptian populations may find this material relevant.

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This summary was generated by an AI large language model based on the content transcript. It is for informational purposes only and should not be considered a substitute for clinical judgment. Always rely on your professional expertise and the full clinical context when making clinical decisions.

Abstract

Introduction

Non-alcoholic fatty liver disease (NAFLD) is a widespread clinical condition that affects about 1/4th adults globally. It can lead to liver fibrosis, cirrhosis, and hepatocellular carcinoma (HCC). More than one-third of Egyptians are affected by NAFLD. Unfortunately, many patients diagnosed with NAFLD after cirrhosis has already occurred.
Single Nucleotide Polymorphisms (SNPs) associated with NAFLD have been proposed to identify the causal variants of the disease and also as potential pharmacological targets. Heritability of NAFLD estimates range from 20% to 70% based on ethnicity, and environmental factors. The first gene variant found to be a consistent genetic risk factor for NAFLD was Patatin-like phospholipase domain containing 3 (PNPLA3) rs738409. In addition, other studies have shown that, Transmembrane 6 superfamily 2 (TM6SF2) rs58542926 and Hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) rs9992651 also affect risk of NAFLD developmen. Some studies also show a role for Glucokinase regulatory protein (GCKR) rs1260326.

Aims & Methods

We aimed to investigate genetic risk factors for NAFLD occurrence in Egyptian patients.
Cases of clinically diagnosed NAFLD (n= 205) and controls (n= 187) were recruited. A subgroup of individuals with NAFLD that had progressed to liver fibrosis (n= 131) was compared with the control individuals. TaqMan-based genotyping assays were employed to explore the association of selected SNPs (PNPLA3 rs738409, TM6SF2 rs58542926, HSD17B13 rs9992651 and GCKR rs1260326) with NAFLD in Egyptian patients.

Results

NAFLD cases versus controls genotype data: rs738409 -genotype showed statistical significance. Univariate analysis for TM6SF2 rs58542926, HSD17B13 rs9992651, and GCKR rs1260326 did not show statistical significance.
After adjusting for the other risk factors -age, gender, BMI, and waist circumference, the association of PNPLA3 rs738409 -genotype, and allele models- with the variant G allele more common in NAFLD remained statistically signiﬁcant with an increased odds ratio. PNPLA3 rs738409 GG carriers have 5.296 times NAFLD risk than CC carriers. For GCKR rs1260326 genotype model, after correction for the other risk factors, the variant T allele acquired statistical signiﬁcance.
Fibrotic-NAFLD cases versus controls genotype data: Univariate analysis for PNPLA3 rs738409 showed statistical significance. The univariate analysis for TM6SF2 rs58542926, HSD17B13 rs9992651, and GCKR rs1260326 did not show statistical significance.
After adjusting for the other risk factors -age, gender, BMI, and waist circumference, the association of PNPLA3 rs738409 -genotype, and allele models remained statistically signiﬁcance with an increased odds ratio. Of note, PNPLA3 rs738409 GG carriers have 9.267 times higher risk of Fibrotic-NAFLD than CC carriers.The association of HSD17B13 rs9992651 -genotype model-with the variant A allele protective against fibrosis acquired statistical signiﬁcance and decreased odds ratio. Notably, HSD17B13 rs9992651 GA carriers have a fibrosis risk 0.487 times less than GG carriers. The association of GCKR rs1260326 -genotype model, after correction for the other risk factors acquired statistical signiﬁcance and an increased odds ratio.

Conclusion

We discovered that in our study population, PNPLA3 rs738409 and GCKR rs1260326 variants increase the risk of NAFLD generally as well as its progression to fibrosis. On the other hand, the HSD17B13 rs9992651 variant may protect against fibrosis development in NAFLD.
Nehal Elmansoury shares the first authorship with Ahmed Kamal.

Conference

UEG Week Copenhagen 2023

Topics

Hepatobiliary

Submission format

Abstract

Session

PP 07 Liver & biliary (Posters)

Citation

United European Gastroenterology Journal 2023; 11 (Supplement 8)

Published

2023

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