Genetic variant I148M in PNPLA3 is associated with the ultrasonography-determined steatosis degree in a Chinese population
- Equal contributors
1 Department of Gastroenterology, First Affiliated Hospital of China Medical University, Shenyang, 110001, China
2 McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, 75390, USA
3 Department of General Surgery, Shengjing Hospital of China Medical University, Shenyang, 110001, China
BMC Medical Genetics 2012, 13:113 doi:10.1186/1471-2350-13-113Published: 23 November 2012
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.
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.
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).
The PNPLA3 I148M variant is associated with the ultrasonography-determined steatosis degree in Chinese population.