Genetic variant I148M in PNPLA3 is associated with the ultrasonography-determined steatosis degree in a Chinese population

Yiling Li, Chao Xing, Zhong Tian, Hung Chih Ku

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

Background: Nonalcoholic fatty liver disease (NAFLD) is an escalating medical problem worldwide. A nonsynonymous single nucleotide polymorphism rs738409 (I148M) in patatin-like phospholipase domain-containing protein 3 (PNPLA3) predisposes susceptibility to NAFLD; however, its association with steatosis grade is inconsistent in the literature. In particular, there was no significant association found between I148M and steatosis grade in two East Asian-based studies. In this study we aim to investigate whether I148M is associated with the ultrasonography-determined steatosis degree in Chinese adults.Methods: 203 NAFLD cases and 202 matched controls were recruited. Cases were classified into mild, moderate and severe fatty liver by ultrasonography. Association between I148M and the ultrasonography-determined steatosis degree as well as other clinical parameters was evaluated.Results: The I148M variant was associated with the ultrasonography-determined steatosis degree with the M allele frequencies being 0.32, 0.54, and 0.87 in mild (n=105), moderate (n=83), and severe (n=15) cases, respectively (P-value = 7.6×10-8). We also confirmed the interaction between I148M variation and body mass index towards elevated plasma alanine aminotransferase levels in cases (P-value = 4.4×10-4).Conclusion: The PNPLA3 I148M variant is associated with the ultrasonography-determined steatosis degree in Chinese population.

Original languageEnglish (US)
Article number113
JournalBMC Medical Genetics
Volume13
DOIs
StatePublished - Nov 23 2012

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Phospholipases
Ultrasonography
Population
Fatty Liver
Alanine Transaminase
Gene Frequency
Single Nucleotide Polymorphism
Body Mass Index
Protein Domains
Non-alcoholic Fatty Liver Disease

Keywords

  • NAFLD
  • PNPLA3
  • Steatosis grade
  • Ultrasonography

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Genetic variant I148M in PNPLA3 is associated with the ultrasonography-determined steatosis degree in a Chinese population. / Li, Yiling; Xing, Chao; Tian, Zhong; Ku, Hung Chih.

In: BMC Medical Genetics, Vol. 13, 113, 23.11.2012.

Research output: Contribution to journalArticle

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N2 - Background: Nonalcoholic fatty liver disease (NAFLD) is an escalating medical problem worldwide. A nonsynonymous single nucleotide polymorphism rs738409 (I148M) in patatin-like phospholipase domain-containing protein 3 (PNPLA3) predisposes susceptibility to NAFLD; however, its association with steatosis grade is inconsistent in the literature. In particular, there was no significant association found between I148M and steatosis grade in two East Asian-based studies. In this study we aim to investigate whether I148M is associated with the ultrasonography-determined steatosis degree in Chinese adults.Methods: 203 NAFLD cases and 202 matched controls were recruited. Cases were classified into mild, moderate and severe fatty liver by ultrasonography. Association between I148M and the ultrasonography-determined steatosis degree as well as other clinical parameters was evaluated.Results: The I148M variant was associated with the ultrasonography-determined steatosis degree with the M allele frequencies being 0.32, 0.54, and 0.87 in mild (n=105), moderate (n=83), and severe (n=15) cases, respectively (P-value = 7.6×10-8). We also confirmed the interaction between I148M variation and body mass index towards elevated plasma alanine aminotransferase levels in cases (P-value = 4.4×10-4).Conclusion: The PNPLA3 I148M variant is associated with the ultrasonography-determined steatosis degree in Chinese population.

AB - Background: Nonalcoholic fatty liver disease (NAFLD) is an escalating medical problem worldwide. A nonsynonymous single nucleotide polymorphism rs738409 (I148M) in patatin-like phospholipase domain-containing protein 3 (PNPLA3) predisposes susceptibility to NAFLD; however, its association with steatosis grade is inconsistent in the literature. In particular, there was no significant association found between I148M and steatosis grade in two East Asian-based studies. In this study we aim to investigate whether I148M is associated with the ultrasonography-determined steatosis degree in Chinese adults.Methods: 203 NAFLD cases and 202 matched controls were recruited. Cases were classified into mild, moderate and severe fatty liver by ultrasonography. Association between I148M and the ultrasonography-determined steatosis degree as well as other clinical parameters was evaluated.Results: The I148M variant was associated with the ultrasonography-determined steatosis degree with the M allele frequencies being 0.32, 0.54, and 0.87 in mild (n=105), moderate (n=83), and severe (n=15) cases, respectively (P-value = 7.6×10-8). We also confirmed the interaction between I148M variation and body mass index towards elevated plasma alanine aminotransferase levels in cases (P-value = 4.4×10-4).Conclusion: The PNPLA3 I148M variant is associated with the ultrasonography-determined steatosis degree in Chinese population.

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