Association of single nucleotide polymorphism at PNPLA3 with fatty liver, steatohepatitis, and cirrhosis of liver

被引：9
作者：
Alam S. [1 ]
Islam M.S. [1 ]
Islam S. [1 ]
Mustafa G. [1 ]
Saleh A.A. [2 ]
Ahmad N. [1 ]
机构：
[1] Department of Hepatology, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka
[2] Department of Microbiology and Immunology, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka
来源：
Indian Journal of Gastroenterology | 2017年 / 36卷 / 5期
关键词：
Non-alcoholic fatty liver disease; Nonalcoholic steatohepatitis; Patatin-like phospholipase domain-containing 3 gene; rs738409; Single nucleotide polymorphism;
D O I：
10.1007/s12664-017-0784-y
中图分类号：
学科分类号：
摘要：
Background/Purpose: The aim of this study was to determine the association of single nucleotide polymorphism (SNP) in patatin-like phospholipase domain-containing 3 (PNPLA3) at I148 with histological severity of non-alcoholic fatty liver disease (NAFLD). Methods: Patients were selected for the study if they had histological evidence of NAFLD and clinical evidence of non-alcoholic steatohepatits (NASH) cirrhosis. We included 50 NASH cirrhosis, 99 patients of NAFLD including 36 non-NASH fatty liver (NNFL) along with 63 NASH and 75 healthy controls. PNPLA3 genotyping was done by real-time PCR using a Taqman assay for rs738409. Results: CC, CG, and GG frequencies were 45 (60.0%)/27 (36.0%)/3 (4.0%) in healthy control, 19 (52.8%)/14 (38.9%)/ 3 (8.3%) in NNFL, 18 (28.6%)/29 (46.0%)/16 (25.4%) in NASH, and 7 (14.6%), 25 (52.1%), 16 (33.3%) in cirrhosis. The frequency of G allele was significantly higher (62.6%) in NAFLD than in healthy control. The GG genotype had 20.25 times odds of NAFLD. The GG genotype had 6.53 times odds of having NASH. HOMA-IR > 1.6 had 3.81 times odds of having NASH. Regression analysis revealed that G allele odds of having cirrhosis was 3.9 times compared to C. The G allele was also significantly associated with steatosis, lobular inflammation, NAFLD activity score, and fibrosis. Conclusion: PNPLA3 genotype showed an association with NAFLD, NASH, fibrosis, and cirrhosis. © 2017, Indian Society of Gastroenterology.
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页码：366 / 372
页数：6
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