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

BMC Medical Genetics

Hung-Chih Ku²  Zhong Tian¹  Chao Xing²  Yiling Li³ 

[1] Department of General Surgery, Shengjing Hospital of China Medical University, Shenyang, 110001, China;McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, 75390, USA;Department of Gastroenterology, First Affiliated Hospital of China Medical University, Shenyang, 110001, China

关键词: Steatosis grade;    Ultrasonography;    NAFLD;    PNPLA3;   

Others  :  1177767
DOI  :  10.1186/1471-2350-13-113

 received in 2012-05-24, accepted in 2012-10-24,  发布年份 2012

【 摘 要 】

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.

【 授权许可】

   
2012 Li et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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