Клинико-морфологические параллели полиморфизма гена PNPLA3 у пациентов с неалкогольной жировой болезнью печени
Клинико-морфологические параллели полиморфизма гена PNPLA3 у пациентов с неалкогольной жировой болезнью печени
Материалы доступны только для специалистов сферы здравоохранения. Авторизуйтесь или зарегистрируйтесь.
Аннотация
Неалкогольная жировая болезнь печени (НАЖБП) – наиболее распространенное хроническое заболевание печени; ее выявление в общей популяции достигло глобальных масштабов. Несмотря на то что на ранних стадиях заболевание характеризуется относительно мягким течением, развитие в ходе его естественного течения неалкогольного стеатогепатита, цирроза печени и гепатоцеллюлярной карциномы приводит к ухудшению долгосрочного прогноза. Все больше данных указывает на то, что НАЖБП имеет сложную, многогранную этиологию, включающую множество факторов, в том числе и генетические. В представленном обзоре мы сосредоточились на генетической составляющей НАЖБП, а именно – на роли полиморфизма гена PNPLA3 в развитии и течении заболевания, а также состояний ее прогрессирования, таких как неалкогольный стеатогепатит, цирроз печени и гепатоцеллюлярная карцинома.
Ключевые слова: неалкогольная жировая болезнь печени, неалкогольный стеатогепатит, цирроз печени, PNPLA3.
Keywords: non-alcoholic fatty liver disease, nonalcoholic steatohepatitis, liver cirrhosis, PNPLA3.
Ключевые слова: неалкогольная жировая болезнь печени, неалкогольный стеатогепатит, цирроз печени, PNPLA3.
________________________________________________
Keywords: non-alcoholic fatty liver disease, nonalcoholic steatohepatitis, liver cirrhosis, PNPLA3.
Список литературы
1. De Alwis NMW, Day CP. Non-alcoholic fatty liver disease: Them its gradually clears. J Hepatol. 2008;48:104-12.
2. Ratziu V, Bellentani S, Cortez-Pinto H, Day C, Marchesini G. A position statement on NAFLD/NASH based on the EASL 2009 special conference. J Hepatol. 2010;53:372-84.
3. Vernon G, Baranova A, Younossi ZM. Systematic review: the epidemiology and natural history of non-alcoholic fatty liver disease and non-alcoholic steatohepatitis in adults. Aliment Pharmacol Ther. 2011;34:274-85.
4. Miele L, Beale G, Patman G, et al. The Kruppel-like factor 6 genotype is associated with fibrosis in nonalcoholic fatty liver disease. Gastroenterology. 2008;35(1):282-91.
5. Romeo S, Kozlitina J, Xing C, et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet. 2008;40(12):1461-5.
6. Day CP, James OF. Steatohepatitis: a tale of two “hits”? Gastroenterology. 1998;114:842-5.
7. Pingitore P, Pirazzi C, Mancina RM, et al. Recombinant PNPLA3 protein shows triglyceride hydrolase activity and its I148M mutation results in loss of function. Biochim Biophys Acta. 2014;1841:574-80.
8. Pirazzi C, Valenti L, Motta BM, et al. PNPLA3 has retinyl-palmitate lipase activity in human hepatic stellate cells. Hum Mol Genet. 2014;23(15):4077-85.
9. Sookoian S, Castaño GO, Burgueño AL, et al. A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. J Lipid Res. 2009;50(10):2111-6.
10. Valenti L, Al-Serri A, Daly AK, et al. Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. Hepatology. 2010;51(4):1209-17.
11. Speliotes EK, Butler JL, Palmer CD, et al. PNPLA3 Variants Specifically Confer Increased Risk for Histologic Nonalcoholic Fatty Liver Disease But Not Metabolic Disease. Hepatology (Baltimore). 2010;52(3):904-12.
12. Rotman Y, Koh C, Zmuda JM, Kleiner DE, Liang TJ. The Association of Genetic Variability in PNPLA3 with Histological Severity of Non-Alcoholic Fatty Liver Disease. Hepatology (Baltimore). 2010;52(3):894-903.
13. Sookoian S, Pirola CJ. Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease. Hepatology. 2011;53(6):1883-94.
14. Shen JH, Li YL, Li D, Wang NN, Jing L, Huang YH. The rs738409 (I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis.
J Lipid Res. 2015;56(1):167-75.
15. Cox AJ, Wing MR, Carr JJ, et al. Association of PNPLA3 SNP rs738409 with liver density in African Americans with type 2 diabetes mellitus. Diabet Metab. 2011;37(5):452-5.
16. Kantartzis K, Peter A, Machicao F, et al. Dissociation between fatty liver and insulin resistance in humans carrying a variant of the patatin-like phospholipase 3 gene. Diabetes. 2009;58(11):2616-23.
17. Palmer CNA, Maglio C, Pirazzi C, et al. Paradoxical Lower Serum Triglyceride Levels and Higher Type 2 Diabetes Mellitus Susceptibility in Obese Individuals with the PNPLA3 148M Variant. Hennige AM, ed. PLoS ONE. 2012;7(6):e39362.
18. Stojkovic IA, Ericson U, Rukh G, Riddestråle M, Romeo S, Orho-Melander M. The PNPLA3 Ile148Met interacts with overweight and dietary intakes on fasting triglyceride levels. Genes Nutr. 2014;9:200-9.
19. Tang CS, Zhang H, Cheung CY, et al. Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese. Nat Commun. 2015;6:10206.
20. Speliotes EK, Yerges-Armstrong LM, Wu J, Hernaez R, Kim LJ, et al. Genome-Wide Association Analysis Identifies Variants Associated withNonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits. PLoS Genet. 2011;7(3):e1001324.
21. Petit JM, Guiu B, Masson D, et al. Specifically PNPLA3-mediated accumulation of liver fat in obese patients with type 2 diabetes. J Clin Endocrinol Metab. 2010;95:430-6.
22. Krawczyk M, Grünhage F, Zimmer V, et al. Variant adiponutrin (PNPLA3) represents a common fibrosis risk gene: Non-invasive elastography-based study in chronic liver disease. J Hepatol. 2011;55: 299-306.
23. Valenti L, Alisi A, Galmozzi E, et al. I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease. Hepatology. 2010;52(4):1274-80.
24. Singal AG, Manjunath H, Yopp AC, et al. The effect of PNPLA3 on fibrosis progression and development of hepatocellular carcinoma: a meta-analysis. Review. Am J Gastroenterol. 2014;109(3):325-34.
25. Khlaiphuengsin A, Kiatbumrung R, Payungporn S, et al. Association of PNPLA3 Polymorphism with Hepatocellular Carcinoma Development and Prognosis in Viral and Non-Viral Chronic Liver Diseases. Asian Pac J Cancer Prev. 2015;16(18):8377-82.
26. Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56-65.
27. Browning JD, Szczepaniak LS, Dobbins R, et al. Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity. Hepatology. 2004;40:1387-95.
28. Browning JD, Kumar KS, Saboorian MH, Thiele DL. Ethnic differences in the prevalence of cryptogenic cirrhosis. Am J Gastroenterol. 2004;99:292-8.
29. Palmer ND, Musani SK, Yerges-Armstrong LM, et al. Characterization of European ancestry nonalcoholic fatty liver disease-associated variants in individuals of African and Hispanic descent. Hepatology. 2013;58:966-75.
30. Qu HQ, Li Q, Grove ML, et al. Population-based risk factors for elevated alanine aminotransferase in a South Texas Mexican-American population. Arch Med Res. 2012;43:482-8.
31. Peng XE, Wu YL, Lin SW, et al. Genetic variants in PNPLA3 and risk of non-alcoholic fatty liver disease in a Han Chinese population. PLoS One. 2012;7:e50256.
32. Li Y, Xing C, Tian Z, Ku HC. Genetic variant I148M in PNPLA3 is associated with the ultrasonography-determined steatosis degree in a Chinese population. BMC Med Genet. 2012;13:113.
33. Kitamoto T, Kitamoto A, Yoneda M, et al. Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan. Hum Genet. 2013;132:783-92.
34. Lee SS, Byoun YS, Jeong SH, et al. Role of the PNPLA3 I148M polymorphism in nonalcoholic fatty liver disease and fibrosis in Korea. Dig Dis Sci. 2014;59:2967-74.
35. Bhatt SP, Nigam P, Misra A, et al. Genetic variation in the patatin-like phospholipase domain-containing protein-3 (PNPLA-3) gene in Asian Indians with nonalcoholic fatty liver disease. Metab Syndr Relat Disord. 2013;11:329-35.
36. Kanth VR, Sasikala M, Rao PN, et al. Pooled genetic analysis in ultrasound measured non-alcoholic fatty liver disease in Indian subjects:
A pilot study. World J Hepatol. 2014;6:435-42.
37. Dubuquoy C, Robichon C, Lasnier F, et al. Distinct regulation of adiponutrin/PNPLA3 gene expression by the transcription factors ChREBP and SREBP1c in mouse and human hepatocytes. J Hepatol. 2011;55:145-53.
38. He S, McPhaul C, Li JZ, et al. A Sequence Variation (I148M) in PNPLA3 Associated with Nonalcoholic Fatty Liver Disease Disrupts Triglyceride Hydrolysis. J Biol Chem. 2010;285(9):6706-15.
39. Smagris E, BasuRay S, Li J, et al. Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis. Hepatology (Baltimore). 2015;61(1):108-18.
40. Pirazzi C, Adiels M, Burza MA, et al. Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) affects hepatic VLDL secretion in humans and in vitro. J Hepatol. 2012;57:1276-82.
41. Mondul A, Mancina RM, Merlo A, et al. PNPLA3 I148M variant influences circulating retinol in adults with nonalcoholic fatty liver disease or obesity. J Nutr. 2015;145:1687-91.
42. Kovarova M, Konigsrainer I, Konigsrainer A, et al. The genetic variant I148M in PNPLA3 is associated with increased hepatic retinyl-palmitate storage in humans. J Clin Endocrinol Metab. 2015;100:1568-74.
43. Moreira RK. Hepatic stellate cells and liver fibrosis. Arch Pathol Lab Med. 2007 Nov;131(11):1728-34.
2. Ratziu V, Bellentani S, Cortez-Pinto H, Day C, Marchesini G. A position statement on NAFLD/NASH based on the EASL 2009 special conference. J Hepatol. 2010;53:372-84.
3. Vernon G, Baranova A, Younossi ZM. Systematic review: the epidemiology and natural history of non-alcoholic fatty liver disease and non-alcoholic steatohepatitis in adults. Aliment Pharmacol Ther. 2011;34:274-85.
4. Miele L, Beale G, Patman G, et al. The Kruppel-like factor 6 genotype is associated with fibrosis in nonalcoholic fatty liver disease. Gastroenterology. 2008;35(1):282-91.
5. Romeo S, Kozlitina J, Xing C, et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet. 2008;40(12):1461-5.
6. Day CP, James OF. Steatohepatitis: a tale of two “hits”? Gastroenterology. 1998;114:842-5.
7. Pingitore P, Pirazzi C, Mancina RM, et al. Recombinant PNPLA3 protein shows triglyceride hydrolase activity and its I148M mutation results in loss of function. Biochim Biophys Acta. 2014;1841:574-80.
8. Pirazzi C, Valenti L, Motta BM, et al. PNPLA3 has retinyl-palmitate lipase activity in human hepatic stellate cells. Hum Mol Genet. 2014;23(15):4077-85.
9. Sookoian S, Castaño GO, Burgueño AL, et al. A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. J Lipid Res. 2009;50(10):2111-6.
10. Valenti L, Al-Serri A, Daly AK, et al. Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. Hepatology. 2010;51(4):1209-17.
11. Speliotes EK, Butler JL, Palmer CD, et al. PNPLA3 Variants Specifically Confer Increased Risk for Histologic Nonalcoholic Fatty Liver Disease But Not Metabolic Disease. Hepatology (Baltimore). 2010;52(3):904-12.
12. Rotman Y, Koh C, Zmuda JM, Kleiner DE, Liang TJ. The Association of Genetic Variability in PNPLA3 with Histological Severity of Non-Alcoholic Fatty Liver Disease. Hepatology (Baltimore). 2010;52(3):894-903.
13. Sookoian S, Pirola CJ. Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease. Hepatology. 2011;53(6):1883-94.
14. Shen JH, Li YL, Li D, Wang NN, Jing L, Huang YH. The rs738409 (I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis.
J Lipid Res. 2015;56(1):167-75.
15. Cox AJ, Wing MR, Carr JJ, et al. Association of PNPLA3 SNP rs738409 with liver density in African Americans with type 2 diabetes mellitus. Diabet Metab. 2011;37(5):452-5.
16. Kantartzis K, Peter A, Machicao F, et al. Dissociation between fatty liver and insulin resistance in humans carrying a variant of the patatin-like phospholipase 3 gene. Diabetes. 2009;58(11):2616-23.
17. Palmer CNA, Maglio C, Pirazzi C, et al. Paradoxical Lower Serum Triglyceride Levels and Higher Type 2 Diabetes Mellitus Susceptibility in Obese Individuals with the PNPLA3 148M Variant. Hennige AM, ed. PLoS ONE. 2012;7(6):e39362.
18. Stojkovic IA, Ericson U, Rukh G, Riddestråle M, Romeo S, Orho-Melander M. The PNPLA3 Ile148Met interacts with overweight and dietary intakes on fasting triglyceride levels. Genes Nutr. 2014;9:200-9.
19. Tang CS, Zhang H, Cheung CY, et al. Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese. Nat Commun. 2015;6:10206.
20. Speliotes EK, Yerges-Armstrong LM, Wu J, Hernaez R, Kim LJ, et al. Genome-Wide Association Analysis Identifies Variants Associated withNonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits. PLoS Genet. 2011;7(3):e1001324.
21. Petit JM, Guiu B, Masson D, et al. Specifically PNPLA3-mediated accumulation of liver fat in obese patients with type 2 diabetes. J Clin Endocrinol Metab. 2010;95:430-6.
22. Krawczyk M, Grünhage F, Zimmer V, et al. Variant adiponutrin (PNPLA3) represents a common fibrosis risk gene: Non-invasive elastography-based study in chronic liver disease. J Hepatol. 2011;55: 299-306.
23. Valenti L, Alisi A, Galmozzi E, et al. I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease. Hepatology. 2010;52(4):1274-80.
24. Singal AG, Manjunath H, Yopp AC, et al. The effect of PNPLA3 on fibrosis progression and development of hepatocellular carcinoma: a meta-analysis. Review. Am J Gastroenterol. 2014;109(3):325-34.
25. Khlaiphuengsin A, Kiatbumrung R, Payungporn S, et al. Association of PNPLA3 Polymorphism with Hepatocellular Carcinoma Development and Prognosis in Viral and Non-Viral Chronic Liver Diseases. Asian Pac J Cancer Prev. 2015;16(18):8377-82.
26. Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56-65.
27. Browning JD, Szczepaniak LS, Dobbins R, et al. Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity. Hepatology. 2004;40:1387-95.
28. Browning JD, Kumar KS, Saboorian MH, Thiele DL. Ethnic differences in the prevalence of cryptogenic cirrhosis. Am J Gastroenterol. 2004;99:292-8.
29. Palmer ND, Musani SK, Yerges-Armstrong LM, et al. Characterization of European ancestry nonalcoholic fatty liver disease-associated variants in individuals of African and Hispanic descent. Hepatology. 2013;58:966-75.
30. Qu HQ, Li Q, Grove ML, et al. Population-based risk factors for elevated alanine aminotransferase in a South Texas Mexican-American population. Arch Med Res. 2012;43:482-8.
31. Peng XE, Wu YL, Lin SW, et al. Genetic variants in PNPLA3 and risk of non-alcoholic fatty liver disease in a Han Chinese population. PLoS One. 2012;7:e50256.
32. Li Y, Xing C, Tian Z, Ku HC. Genetic variant I148M in PNPLA3 is associated with the ultrasonography-determined steatosis degree in a Chinese population. BMC Med Genet. 2012;13:113.
33. Kitamoto T, Kitamoto A, Yoneda M, et al. Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan. Hum Genet. 2013;132:783-92.
34. Lee SS, Byoun YS, Jeong SH, et al. Role of the PNPLA3 I148M polymorphism in nonalcoholic fatty liver disease and fibrosis in Korea. Dig Dis Sci. 2014;59:2967-74.
35. Bhatt SP, Nigam P, Misra A, et al. Genetic variation in the patatin-like phospholipase domain-containing protein-3 (PNPLA-3) gene in Asian Indians with nonalcoholic fatty liver disease. Metab Syndr Relat Disord. 2013;11:329-35.
36. Kanth VR, Sasikala M, Rao PN, et al. Pooled genetic analysis in ultrasound measured non-alcoholic fatty liver disease in Indian subjects:
A pilot study. World J Hepatol. 2014;6:435-42.
37. Dubuquoy C, Robichon C, Lasnier F, et al. Distinct regulation of adiponutrin/PNPLA3 gene expression by the transcription factors ChREBP and SREBP1c in mouse and human hepatocytes. J Hepatol. 2011;55:145-53.
38. He S, McPhaul C, Li JZ, et al. A Sequence Variation (I148M) in PNPLA3 Associated with Nonalcoholic Fatty Liver Disease Disrupts Triglyceride Hydrolysis. J Biol Chem. 2010;285(9):6706-15.
39. Smagris E, BasuRay S, Li J, et al. Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis. Hepatology (Baltimore). 2015;61(1):108-18.
40. Pirazzi C, Adiels M, Burza MA, et al. Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) affects hepatic VLDL secretion in humans and in vitro. J Hepatol. 2012;57:1276-82.
41. Mondul A, Mancina RM, Merlo A, et al. PNPLA3 I148M variant influences circulating retinol in adults with nonalcoholic fatty liver disease or obesity. J Nutr. 2015;145:1687-91.
42. Kovarova M, Konigsrainer I, Konigsrainer A, et al. The genetic variant I148M in PNPLA3 is associated with increased hepatic retinyl-palmitate storage in humans. J Clin Endocrinol Metab. 2015;100:1568-74.
43. Moreira RK. Hepatic stellate cells and liver fibrosis. Arch Pathol Lab Med. 2007 Nov;131(11):1728-34.
2. Ratziu V, Bellentani S, Cortez-Pinto H, Day C, Marchesini G. A position statement on NAFLD/NASH based on the EASL 2009 special conference. J Hepatol. 2010;53:372-84.
3. Vernon G, Baranova A, Younossi ZM. Systematic review: the epidemiology and natural history of non-alcoholic fatty liver disease and non-alcoholic steatohepatitis in adults. Aliment Pharmacol Ther. 2011;34:274-85.
4. Miele L, Beale G, Patman G, et al. The Kruppel-like factor 6 genotype is associated with fibrosis in nonalcoholic fatty liver disease. Gastroenterology. 2008;35(1):282-91.
5. Romeo S, Kozlitina J, Xing C, et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet. 2008;40(12):1461-5.
6. Day CP, James OF. Steatohepatitis: a tale of two “hits”? Gastroenterology. 1998;114:842-5.
7. Pingitore P, Pirazzi C, Mancina RM, et al. Recombinant PNPLA3 protein shows triglyceride hydrolase activity and its I148M mutation results in loss of function. Biochim Biophys Acta. 2014;1841:574-80.
8. Pirazzi C, Valenti L, Motta BM, et al. PNPLA3 has retinyl-palmitate lipase activity in human hepatic stellate cells. Hum Mol Genet. 2014;23(15):4077-85.
9. Sookoian S, Castaño GO, Burgueño AL, et al. A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. J Lipid Res. 2009;50(10):2111-6.
10. Valenti L, Al-Serri A, Daly AK, et al. Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. Hepatology. 2010;51(4):1209-17.
11. Speliotes EK, Butler JL, Palmer CD, et al. PNPLA3 Variants Specifically Confer Increased Risk for Histologic Nonalcoholic Fatty Liver Disease But Not Metabolic Disease. Hepatology (Baltimore). 2010;52(3):904-12.
12. Rotman Y, Koh C, Zmuda JM, Kleiner DE, Liang TJ. The Association of Genetic Variability in PNPLA3 with Histological Severity of Non-Alcoholic Fatty Liver Disease. Hepatology (Baltimore). 2010;52(3):894-903.
13. Sookoian S, Pirola CJ. Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease. Hepatology. 2011;53(6):1883-94.
14. Shen JH, Li YL, Li D, Wang NN, Jing L, Huang YH. The rs738409 (I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis.
J Lipid Res. 2015;56(1):167-75.
15. Cox AJ, Wing MR, Carr JJ, et al. Association of PNPLA3 SNP rs738409 with liver density in African Americans with type 2 diabetes mellitus. Diabet Metab. 2011;37(5):452-5.
16. Kantartzis K, Peter A, Machicao F, et al. Dissociation between fatty liver and insulin resistance in humans carrying a variant of the patatin-like phospholipase 3 gene. Diabetes. 2009;58(11):2616-23.
17. Palmer CNA, Maglio C, Pirazzi C, et al. Paradoxical Lower Serum Triglyceride Levels and Higher Type 2 Diabetes Mellitus Susceptibility in Obese Individuals with the PNPLA3 148M Variant. Hennige AM, ed. PLoS ONE. 2012;7(6):e39362.
18. Stojkovic IA, Ericson U, Rukh G, Riddestråle M, Romeo S, Orho-Melander M. The PNPLA3 Ile148Met interacts with overweight and dietary intakes on fasting triglyceride levels. Genes Nutr. 2014;9:200-9.
19. Tang CS, Zhang H, Cheung CY, et al. Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese. Nat Commun. 2015;6:10206.
20. Speliotes EK, Yerges-Armstrong LM, Wu J, Hernaez R, Kim LJ, et al. Genome-Wide Association Analysis Identifies Variants Associated withNonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits. PLoS Genet. 2011;7(3):e1001324.
21. Petit JM, Guiu B, Masson D, et al. Specifically PNPLA3-mediated accumulation of liver fat in obese patients with type 2 diabetes. J Clin Endocrinol Metab. 2010;95:430-6.
22. Krawczyk M, Grünhage F, Zimmer V, et al. Variant adiponutrin (PNPLA3) represents a common fibrosis risk gene: Non-invasive elastography-based study in chronic liver disease. J Hepatol. 2011;55: 299-306.
23. Valenti L, Alisi A, Galmozzi E, et al. I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease. Hepatology. 2010;52(4):1274-80.
24. Singal AG, Manjunath H, Yopp AC, et al. The effect of PNPLA3 on fibrosis progression and development of hepatocellular carcinoma: a meta-analysis. Review. Am J Gastroenterol. 2014;109(3):325-34.
25. Khlaiphuengsin A, Kiatbumrung R, Payungporn S, et al. Association of PNPLA3 Polymorphism with Hepatocellular Carcinoma Development and Prognosis in Viral and Non-Viral Chronic Liver Diseases. Asian Pac J Cancer Prev. 2015;16(18):8377-82.
26. Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56-65.
27. Browning JD, Szczepaniak LS, Dobbins R, et al. Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity. Hepatology. 2004;40:1387-95.
28. Browning JD, Kumar KS, Saboorian MH, Thiele DL. Ethnic differences in the prevalence of cryptogenic cirrhosis. Am J Gastroenterol. 2004;99:292-8.
29. Palmer ND, Musani SK, Yerges-Armstrong LM, et al. Characterization of European ancestry nonalcoholic fatty liver disease-associated variants in individuals of African and Hispanic descent. Hepatology. 2013;58:966-75.
30. Qu HQ, Li Q, Grove ML, et al. Population-based risk factors for elevated alanine aminotransferase in a South Texas Mexican-American population. Arch Med Res. 2012;43:482-8.
31. Peng XE, Wu YL, Lin SW, et al. Genetic variants in PNPLA3 and risk of non-alcoholic fatty liver disease in a Han Chinese population. PLoS One. 2012;7:e50256.
32. Li Y, Xing C, Tian Z, Ku HC. Genetic variant I148M in PNPLA3 is associated with the ultrasonography-determined steatosis degree in a Chinese population. BMC Med Genet. 2012;13:113.
33. Kitamoto T, Kitamoto A, Yoneda M, et al. Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan. Hum Genet. 2013;132:783-92.
34. Lee SS, Byoun YS, Jeong SH, et al. Role of the PNPLA3 I148M polymorphism in nonalcoholic fatty liver disease and fibrosis in Korea. Dig Dis Sci. 2014;59:2967-74.
35. Bhatt SP, Nigam P, Misra A, et al. Genetic variation in the patatin-like phospholipase domain-containing protein-3 (PNPLA-3) gene in Asian Indians with nonalcoholic fatty liver disease. Metab Syndr Relat Disord. 2013;11:329-35.
36. Kanth VR, Sasikala M, Rao PN, et al. Pooled genetic analysis in ultrasound measured non-alcoholic fatty liver disease in Indian subjects:
A pilot study. World J Hepatol. 2014;6:435-42.
37. Dubuquoy C, Robichon C, Lasnier F, et al. Distinct regulation of adiponutrin/PNPLA3 gene expression by the transcription factors ChREBP and SREBP1c in mouse and human hepatocytes. J Hepatol. 2011;55:145-53.
38. He S, McPhaul C, Li JZ, et al. A Sequence Variation (I148M) in PNPLA3 Associated with Nonalcoholic Fatty Liver Disease Disrupts Triglyceride Hydrolysis. J Biol Chem. 2010;285(9):6706-15.
39. Smagris E, BasuRay S, Li J, et al. Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis. Hepatology (Baltimore). 2015;61(1):108-18.
40. Pirazzi C, Adiels M, Burza MA, et al. Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) affects hepatic VLDL secretion in humans and in vitro. J Hepatol. 2012;57:1276-82.
41. Mondul A, Mancina RM, Merlo A, et al. PNPLA3 I148M variant influences circulating retinol in adults with nonalcoholic fatty liver disease or obesity. J Nutr. 2015;145:1687-91.
42. Kovarova M, Konigsrainer I, Konigsrainer A, et al. The genetic variant I148M in PNPLA3 is associated with increased hepatic retinyl-palmitate storage in humans. J Clin Endocrinol Metab. 2015;100:1568-74.
43. Moreira RK. Hepatic stellate cells and liver fibrosis. Arch Pathol Lab Med. 2007 Nov;131(11):1728-34.
________________________________________________
2. Ratziu V, Bellentani S, Cortez-Pinto H, Day C, Marchesini G. A position statement on NAFLD/NASH based on the EASL 2009 special conference. J Hepatol. 2010;53:372-84.
3. Vernon G, Baranova A, Younossi ZM. Systematic review: the epidemiology and natural history of non-alcoholic fatty liver disease and non-alcoholic steatohepatitis in adults. Aliment Pharmacol Ther. 2011;34:274-85.
4. Miele L, Beale G, Patman G, et al. The Kruppel-like factor 6 genotype is associated with fibrosis in nonalcoholic fatty liver disease. Gastroenterology. 2008;35(1):282-91.
5. Romeo S, Kozlitina J, Xing C, et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet. 2008;40(12):1461-5.
6. Day CP, James OF. Steatohepatitis: a tale of two “hits”? Gastroenterology. 1998;114:842-5.
7. Pingitore P, Pirazzi C, Mancina RM, et al. Recombinant PNPLA3 protein shows triglyceride hydrolase activity and its I148M mutation results in loss of function. Biochim Biophys Acta. 2014;1841:574-80.
8. Pirazzi C, Valenti L, Motta BM, et al. PNPLA3 has retinyl-palmitate lipase activity in human hepatic stellate cells. Hum Mol Genet. 2014;23(15):4077-85.
9. Sookoian S, Castaño GO, Burgueño AL, et al. A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity. J Lipid Res. 2009;50(10):2111-6.
10. Valenti L, Al-Serri A, Daly AK, et al. Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. Hepatology. 2010;51(4):1209-17.
11. Speliotes EK, Butler JL, Palmer CD, et al. PNPLA3 Variants Specifically Confer Increased Risk for Histologic Nonalcoholic Fatty Liver Disease But Not Metabolic Disease. Hepatology (Baltimore). 2010;52(3):904-12.
12. Rotman Y, Koh C, Zmuda JM, Kleiner DE, Liang TJ. The Association of Genetic Variability in PNPLA3 with Histological Severity of Non-Alcoholic Fatty Liver Disease. Hepatology (Baltimore). 2010;52(3):894-903.
13. Sookoian S, Pirola CJ. Meta-analysis of the influence of I148M variant of patatin-like phospholipase domain containing 3 gene (PNPLA3) on the susceptibility and histological severity of nonalcoholic fatty liver disease. Hepatology. 2011;53(6):1883-94.
14. Shen JH, Li YL, Li D, Wang NN, Jing L, Huang YH. The rs738409 (I148M) variant of the PNPLA3 gene and cirrhosis: a meta-analysis.
J Lipid Res. 2015;56(1):167-75.
15. Cox AJ, Wing MR, Carr JJ, et al. Association of PNPLA3 SNP rs738409 with liver density in African Americans with type 2 diabetes mellitus. Diabet Metab. 2011;37(5):452-5.
16. Kantartzis K, Peter A, Machicao F, et al. Dissociation between fatty liver and insulin resistance in humans carrying a variant of the patatin-like phospholipase 3 gene. Diabetes. 2009;58(11):2616-23.
17. Palmer CNA, Maglio C, Pirazzi C, et al. Paradoxical Lower Serum Triglyceride Levels and Higher Type 2 Diabetes Mellitus Susceptibility in Obese Individuals with the PNPLA3 148M Variant. Hennige AM, ed. PLoS ONE. 2012;7(6):e39362.
18. Stojkovic IA, Ericson U, Rukh G, Riddestråle M, Romeo S, Orho-Melander M. The PNPLA3 Ile148Met interacts with overweight and dietary intakes on fasting triglyceride levels. Genes Nutr. 2014;9:200-9.
19. Tang CS, Zhang H, Cheung CY, et al. Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese. Nat Commun. 2015;6:10206.
20. Speliotes EK, Yerges-Armstrong LM, Wu J, Hernaez R, Kim LJ, et al. Genome-Wide Association Analysis Identifies Variants Associated withNonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits. PLoS Genet. 2011;7(3):e1001324.
21. Petit JM, Guiu B, Masson D, et al. Specifically PNPLA3-mediated accumulation of liver fat in obese patients with type 2 diabetes. J Clin Endocrinol Metab. 2010;95:430-6.
22. Krawczyk M, Grünhage F, Zimmer V, et al. Variant adiponutrin (PNPLA3) represents a common fibrosis risk gene: Non-invasive elastography-based study in chronic liver disease. J Hepatol. 2011;55: 299-306.
23. Valenti L, Alisi A, Galmozzi E, et al. I148M patatin-like phospholipase domain-containing 3 gene variant and severity of pediatric nonalcoholic fatty liver disease. Hepatology. 2010;52(4):1274-80.
24. Singal AG, Manjunath H, Yopp AC, et al. The effect of PNPLA3 on fibrosis progression and development of hepatocellular carcinoma: a meta-analysis. Review. Am J Gastroenterol. 2014;109(3):325-34.
25. Khlaiphuengsin A, Kiatbumrung R, Payungporn S, et al. Association of PNPLA3 Polymorphism with Hepatocellular Carcinoma Development and Prognosis in Viral and Non-Viral Chronic Liver Diseases. Asian Pac J Cancer Prev. 2015;16(18):8377-82.
26. Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491(7422):56-65.
27. Browning JD, Szczepaniak LS, Dobbins R, et al. Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity. Hepatology. 2004;40:1387-95.
28. Browning JD, Kumar KS, Saboorian MH, Thiele DL. Ethnic differences in the prevalence of cryptogenic cirrhosis. Am J Gastroenterol. 2004;99:292-8.
29. Palmer ND, Musani SK, Yerges-Armstrong LM, et al. Characterization of European ancestry nonalcoholic fatty liver disease-associated variants in individuals of African and Hispanic descent. Hepatology. 2013;58:966-75.
30. Qu HQ, Li Q, Grove ML, et al. Population-based risk factors for elevated alanine aminotransferase in a South Texas Mexican-American population. Arch Med Res. 2012;43:482-8.
31. Peng XE, Wu YL, Lin SW, et al. Genetic variants in PNPLA3 and risk of non-alcoholic fatty liver disease in a Han Chinese population. PLoS One. 2012;7:e50256.
32. Li Y, Xing C, Tian Z, Ku HC. Genetic variant I148M in PNPLA3 is associated with the ultrasonography-determined steatosis degree in a Chinese population. BMC Med Genet. 2012;13:113.
33. Kitamoto T, Kitamoto A, Yoneda M, et al. Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan. Hum Genet. 2013;132:783-92.
34. Lee SS, Byoun YS, Jeong SH, et al. Role of the PNPLA3 I148M polymorphism in nonalcoholic fatty liver disease and fibrosis in Korea. Dig Dis Sci. 2014;59:2967-74.
35. Bhatt SP, Nigam P, Misra A, et al. Genetic variation in the patatin-like phospholipase domain-containing protein-3 (PNPLA-3) gene in Asian Indians with nonalcoholic fatty liver disease. Metab Syndr Relat Disord. 2013;11:329-35.
36. Kanth VR, Sasikala M, Rao PN, et al. Pooled genetic analysis in ultrasound measured non-alcoholic fatty liver disease in Indian subjects:
A pilot study. World J Hepatol. 2014;6:435-42.
37. Dubuquoy C, Robichon C, Lasnier F, et al. Distinct regulation of adiponutrin/PNPLA3 gene expression by the transcription factors ChREBP and SREBP1c in mouse and human hepatocytes. J Hepatol. 2011;55:145-53.
38. He S, McPhaul C, Li JZ, et al. A Sequence Variation (I148M) in PNPLA3 Associated with Nonalcoholic Fatty Liver Disease Disrupts Triglyceride Hydrolysis. J Biol Chem. 2010;285(9):6706-15.
39. Smagris E, BasuRay S, Li J, et al. Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis. Hepatology (Baltimore). 2015;61(1):108-18.
40. Pirazzi C, Adiels M, Burza MA, et al. Patatin-like phospholipase domain-containing 3 (PNPLA3) I148M (rs738409) affects hepatic VLDL secretion in humans and in vitro. J Hepatol. 2012;57:1276-82.
41. Mondul A, Mancina RM, Merlo A, et al. PNPLA3 I148M variant influences circulating retinol in adults with nonalcoholic fatty liver disease or obesity. J Nutr. 2015;145:1687-91.
42. Kovarova M, Konigsrainer I, Konigsrainer A, et al. The genetic variant I148M in PNPLA3 is associated with increased hepatic retinyl-palmitate storage in humans. J Clin Endocrinol Metab. 2015;100:1568-74.
43. Moreira RK. Hepatic stellate cells and liver fibrosis. Arch Pathol Lab Med. 2007 Nov;131(11):1728-34.
Авторы
А.С. Тихомирова1, В.А. Кисляков1, И.Е. Байкова1, И.Г. Никитин1,2
1 ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России, Москва, Россия;
2 ФГАУ «Лечебно-реабилитационный центр» Минздрава России, Москва, Россия
1 N.I. Pirogov Russian national research medical University, Ministry of health of Russia, Moscow, Russian
2 Higher Medical rehabilitation center, Ministry of health of Russia, Moscow, Russia
1 ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России, Москва, Россия;
2 ФГАУ «Лечебно-реабилитационный центр» Минздрава России, Москва, Россия
________________________________________________
1 N.I. Pirogov Russian national research medical University, Ministry of health of Russia, Moscow, Russian
2 Higher Medical rehabilitation center, Ministry of health of Russia, Moscow, Russia
Цель портала OmniDoctor – предоставление профессиональной информации врачам, провизорам и фармацевтам.