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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.

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