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Journal article
Frequency of the PNPLA3 rs738409 polymorphism and other genetic loci for liver disease in a Guatemalan adult population
LIVER INTERNATIONAL, v 42(6), p1470
Jun 2022
PMID: 35365950
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Background & Aims Individuals of Latino ancestry experience disproportionate rates of nonalcoholic fatty liver disease (NAFLD) and other liver disorders. Common genetic variants have been linked to NAFLD, but their prevalence in Guatemalan adults has not been previously examined. Methods Selected genetic variants including rs738409 (PNPLA3), rs2228603 (NCAN), rs780094 (GCKR), and rs12137855 (LYPLAL1) were examined in a cross-sectional study of 403 adults with low or no alcohol consumption and without viral hepatitis. The primary liver disease measure was an elevated level of aminotransferases (ALT or AST). Regression analyses used additive genetic models and controlled for age, sex, alcohol consumption, ancestry informative markers, and body mass index. For genetic variants with significant associations, we calculated the attributable fraction of elevated ALT/AST. Results The overall frequency of the PNPLA3 G allele of rs738409 was 0.69. The frequency was higher among persons who self-identified as indigenous compared to persons who did not (0.77 vs. 0.59). The PNPLA3 G allele of rs738409 was significantly associated with elevated ALT/AST (adjusted OR = 2.04, 95% CI 1.38, 3.03). NCAN, GCKR, and LYPLAL1 variants were not associated with the liver disease measures. The estimated attributable fraction of elevated ALT/AST due to the PNPLA3 rs738409 G allele was 33%. Conclusions There is an exceptionally high prevalence of the PNPLA3 rs738409 risk variant among Guatemalan adults. Future studies are needed to examine the role of genetic testing to inform prevention and management of persons at risk of, or with, NAFLD, and to understand whether environmental factors modulate genetic predisposition.
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Details
- Title
- Frequency of the PNPLA3 rs738409 polymorphism and other genetic loci for liver disease in a Guatemalan adult population
- Publication Details
- LIVER INTERNATIONAL, v 42(6), p1470
- Publisher
- WILEY; HOBOKEN
- Grant note
- This work was supported by the National Institutes of Health grants P30CA006973-52S3, 1UL1RR025005, M. L. was supported also by the Linda Kao Award from the Johns Hopkins School of Public Health. This study was also funded in part by the Intramural Research Program of the National Cancer Institute.
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Drexel University
- Web of Science ID
- WOS:000782196000001
- Scopus ID
- 2-s2.0-85127963733
- Other Identifier
- 991021861292504721
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- Collaboration types
- Industry collaboration
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Gastroenterology & Hepatology