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Association of single nucleotide polymorphism at PNPLA3 with fatty liver, steatohepatitis, and cirrhosis of liver.
Indian J Gastroenterol 2017; 36(5):366-372IJ

Abstract

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.

Authors+Show Affiliations

Department of Hepatology, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka, Bangladesh. shahinul67@yahoo.com.Department of Hepatology, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka, Bangladesh.Department of Hepatology, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka, Bangladesh.Department of Hepatology, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka, Bangladesh.Department of Microbiology and Immunology, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka, Bangladesh.Department of Hepatology, Bangabandhu Sheikh Mujib Medical University, Shahbag, Dhaka, Bangladesh.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28975533

Citation

Alam, Shahinul, et al. "Association of Single Nucleotide Polymorphism at PNPLA3 With Fatty Liver, Steatohepatitis, and Cirrhosis of Liver." Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, vol. 36, no. 5, 2017, pp. 366-372.
Alam S, Islam MS, Islam S, et al. Association of single nucleotide polymorphism at PNPLA3 with fatty liver, steatohepatitis, and cirrhosis of liver. Indian J Gastroenterol. 2017;36(5):366-372.
Alam, S., Islam, M. S., Islam, S., Mustafa, G., Saleh, A. A., & Ahmad, N. (2017). Association of single nucleotide polymorphism at PNPLA3 with fatty liver, steatohepatitis, and cirrhosis of liver. Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 36(5), pp. 366-372. doi:10.1007/s12664-017-0784-y.
Alam S, et al. Association of Single Nucleotide Polymorphism at PNPLA3 With Fatty Liver, Steatohepatitis, and Cirrhosis of Liver. Indian J Gastroenterol. 2017;36(5):366-372. PubMed PMID: 28975533.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of single nucleotide polymorphism at PNPLA3 with fatty liver, steatohepatitis, and cirrhosis of liver. AU - Alam,Shahinul, AU - Islam,Mohammad Shaiful, AU - Islam,Saiful, AU - Mustafa,Golam, AU - Saleh,Ahmed Abu, AU - Ahmad,Nooruddin, Y1 - 2017/10/04/ PY - 2017/05/09/received PY - 2017/09/05/accepted PY - 2017/10/5/pubmed PY - 2018/4/14/medline PY - 2017/10/5/entrez KW - Non-alcoholic fatty liver disease KW - Nonalcoholic steatohepatitis KW - Patatin-like phospholipase domain-containing 3 gene KW - Single nucleotide polymorphism KW - rs738409 SP - 366 EP - 372 JF - Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology JO - Indian J Gastroenterol VL - 36 IS - 5 N2 - 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. SN - 0975-0711 UR - https://www.unboundmedicine.com/medline/citation/28975533/Association_of_single_nucleotide_polymorphism_at_PNPLA3_with_fatty_liver_steatohepatitis_and_cirrhosis_of_liver_ L2 - https://dx.doi.org/10.1007/s12664-017-0784-y DB - PRIME DP - Unbound Medicine ER -