Genotypic variation in CYP2E1, GCKR, and PNPLA3 among nonalcoholic steatohepatitis patients of Turkish origin.
Humans
Male
Female
Turkey
Lipase
/ genetics
Polymorphism, Single Nucleotide
/ genetics
Non-alcoholic Fatty Liver Disease
/ genetics
Middle Aged
Adult
Membrane Proteins
/ genetics
Genetic Predisposition to Disease
Gene Frequency
/ genetics
Genotype
Cytochrome P-450 CYP2E1
/ genetics
Adaptor Proteins, Signal Transducing
/ genetics
Alleles
Case-Control Studies
Aged
Acyltransferases
Phospholipases A2, Calcium-Independent
Hardy-Weinberg proportion
Nonalcoholic steatohepatitis
Single nucleotide polymorphism
Turkish population
Journal
Molecular biology reports
ISSN: 1573-4978
Titre abrégé: Mol Biol Rep
Pays: Netherlands
ID NLM: 0403234
Informations de publication
Date de publication:
23 Jul 2024
23 Jul 2024
Historique:
received:
30
03
2024
accepted:
08
07
2024
medline:
23
7
2024
pubmed:
23
7
2024
entrez:
23
7
2024
Statut:
epublish
Résumé
This study examines genetic variations in CYP2E1 (rs6413432, rs3813867), GCKR (rs780094, rs1260326), and PNPLA3 (rs738409) among Turkish patients to assess their influence on nonalcoholic steatohepatitis. Allele and genotype frequencies were compared between 245 NASH patients and 120 healthy controls using SNP genotyping via polymerase chain reaction-restriction fragment length polymorphism. Additionally, the deviation of the observed genotype frequencies from Hardy-Weinberg proportion was examined. No significant differences were found in the allelic and genotypic distributions of rs6413432, rs3813867, and rs780094 between NASH patients and healthy controls. However, significant disparities were noted for rs1260326 and rs738409. Gender and age-specific distributions showed no notable differences. The only observed deviation from Hardy-Weinberg proportion was in the genotype frequency of rs738409. Variants in GCKR (rs1260326) and PNPLA3 (rs738409) are significantly associated with increased NASH risk in the Turkish population, with the rs738409 variant potentially playing a more prominent role in NASH development.
Sections du résumé
BACKGROUND
BACKGROUND
This study examines genetic variations in CYP2E1 (rs6413432, rs3813867), GCKR (rs780094, rs1260326), and PNPLA3 (rs738409) among Turkish patients to assess their influence on nonalcoholic steatohepatitis.
METHODS
METHODS
Allele and genotype frequencies were compared between 245 NASH patients and 120 healthy controls using SNP genotyping via polymerase chain reaction-restriction fragment length polymorphism. Additionally, the deviation of the observed genotype frequencies from Hardy-Weinberg proportion was examined.
RESULTS
RESULTS
No significant differences were found in the allelic and genotypic distributions of rs6413432, rs3813867, and rs780094 between NASH patients and healthy controls. However, significant disparities were noted for rs1260326 and rs738409. Gender and age-specific distributions showed no notable differences. The only observed deviation from Hardy-Weinberg proportion was in the genotype frequency of rs738409.
CONCLUSIONS
CONCLUSIONS
Variants in GCKR (rs1260326) and PNPLA3 (rs738409) are significantly associated with increased NASH risk in the Turkish population, with the rs738409 variant potentially playing a more prominent role in NASH development.
Identifiants
pubmed: 39042259
doi: 10.1007/s11033-024-09787-w
pii: 10.1007/s11033-024-09787-w
doi:
Substances chimiques
Lipase
EC 3.1.1.3
PNPLA3 protein, human
EC 3.1.1.3
GCKR protein, human
0
Membrane Proteins
0
Cytochrome P-450 CYP2E1
EC 1.14.13.-
Adaptor Proteins, Signal Transducing
0
Acyltransferases
EC 2.3.-
Phospholipases A2, Calcium-Independent
EC 3.1.1.4
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
845Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer Nature B.V.
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