Genetic polymorphisms in non-alcoholic fatty liver disease in obese Egyptian children
Background/Aim : Polymorphisms in the promoter of microsomal triglyceride transfer protein (MTP) lead to decreased MTP transcription, less export of triglyceride from hepatocytes, and greater intracellular triglyceride accumulation. Therefore, functional polymorphisms in MTP may be involved in deter...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2011-01-01
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| Series: | The Saudi Journal of Gastroenterology |
| Subjects: | |
| Online Access: | http://www.saudijgastro.com/article.asp?issn=1319-3767;year=2011;volume=17;issue=4;spage=265;epage=270;aulast=El-Koofy |
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| author | Nehal M El-Koofy Hanaa M El-Karaksy Iman M Mandour Ghada M Anwar Mona S El-Raziky Ahmad M El-Hennawy |
| author_facet | Nehal M El-Koofy Hanaa M El-Karaksy Iman M Mandour Ghada M Anwar Mona S El-Raziky Ahmad M El-Hennawy |
| author_sort | Nehal M El-Koofy |
| collection | DOAJ |
| description | Background/Aim : Polymorphisms in the promoter of microsomal triglyceride transfer protein (MTP) lead to decreased MTP transcription, less export of triglyceride from hepatocytes, and greater intracellular triglyceride accumulation. Therefore, functional polymorphisms in MTP may be involved in determining susceptibility to nonalcoholic steatohepatitis (NASH). The aim of this study is to examine the effect of some genetic influences among a group of obese Egyptian children. Patients and Methods: A cross-sectional study was conducted on 76 overweight and obese children presenting to the Pediatric Endocrinology Unit, Cairo University Children′s Hospital, Egypt, as well as on 20 healthy controls. Anthropometric measurements were taken for all the patients and they underwent clinical examination, ultrasonographic examination of the liver, and liver biopsy when appropriate. Liver functions, blood glucose, serum insulin, C-peptide, and lipid profile were assessed and HOMA-IR calculated. Blood samples from biopsy-proven NASH patients and controls were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism for the −493 G/T polymorphism in the promoter of MTP and the 1183 T/C polymorphism in the mitochondrial targeting sequence of manganese superoxide dismutase (MnSOD). Results : Eight had biopsy-proven simple steatosis and 7 had NASH. NASH patients had a much higher incidence of the MTP G/G genotype (P = 0.002, CI: 2.9-392) compared with the controls. NASH patients also had a 100% prevalence of the MnSOD T/T genotype. Conclusion: Certain genotypes in MTP and MnSOD are significantly more prevalent among obese children with NASH and may be responsible for such a phenotype. |
| first_indexed | 2024-04-12T02:15:56Z |
| format | Article |
| id | doaj.art-a51224848de34e3d8303a1f7ef5d8a1e |
| institution | Directory Open Access Journal |
| issn | 1319-3767 1998-4049 |
| language | English |
| last_indexed | 2024-04-12T02:15:56Z |
| publishDate | 2011-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | The Saudi Journal of Gastroenterology |
| spelling | doaj.art-a51224848de34e3d8303a1f7ef5d8a1e2022-12-22T03:52:15ZengWolters Kluwer Medknow PublicationsThe Saudi Journal of Gastroenterology1319-37671998-40492011-01-0117426527010.4103/1319-3767.82582Genetic polymorphisms in non-alcoholic fatty liver disease in obese Egyptian childrenNehal M El-KoofyHanaa M El-KaraksyIman M MandourGhada M AnwarMona S El-RazikyAhmad M El-HennawyBackground/Aim : Polymorphisms in the promoter of microsomal triglyceride transfer protein (MTP) lead to decreased MTP transcription, less export of triglyceride from hepatocytes, and greater intracellular triglyceride accumulation. Therefore, functional polymorphisms in MTP may be involved in determining susceptibility to nonalcoholic steatohepatitis (NASH). The aim of this study is to examine the effect of some genetic influences among a group of obese Egyptian children. Patients and Methods: A cross-sectional study was conducted on 76 overweight and obese children presenting to the Pediatric Endocrinology Unit, Cairo University Children′s Hospital, Egypt, as well as on 20 healthy controls. Anthropometric measurements were taken for all the patients and they underwent clinical examination, ultrasonographic examination of the liver, and liver biopsy when appropriate. Liver functions, blood glucose, serum insulin, C-peptide, and lipid profile were assessed and HOMA-IR calculated. Blood samples from biopsy-proven NASH patients and controls were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism for the −493 G/T polymorphism in the promoter of MTP and the 1183 T/C polymorphism in the mitochondrial targeting sequence of manganese superoxide dismutase (MnSOD). Results : Eight had biopsy-proven simple steatosis and 7 had NASH. NASH patients had a much higher incidence of the MTP G/G genotype (P = 0.002, CI: 2.9-392) compared with the controls. NASH patients also had a 100% prevalence of the MnSOD T/T genotype. Conclusion: Certain genotypes in MTP and MnSOD are significantly more prevalent among obese children with NASH and may be responsible for such a phenotype.http://www.saudijgastro.com/article.asp?issn=1319-3767;year=2011;volume=17;issue=4;spage=265;epage=270;aulast=El-KoofyEgyptian childrenmicrosomal triglyceride transfer proteinmanganese superoxide dismutasenonalcoholic steatohepatitisobesity |
| spellingShingle | Nehal M El-Koofy Hanaa M El-Karaksy Iman M Mandour Ghada M Anwar Mona S El-Raziky Ahmad M El-Hennawy Genetic polymorphisms in non-alcoholic fatty liver disease in obese Egyptian children The Saudi Journal of Gastroenterology Egyptian children microsomal triglyceride transfer protein manganese superoxide dismutase nonalcoholic steatohepatitis obesity |
| title | Genetic polymorphisms in non-alcoholic fatty liver disease in obese Egyptian children |
| title_full | Genetic polymorphisms in non-alcoholic fatty liver disease in obese Egyptian children |
| title_fullStr | Genetic polymorphisms in non-alcoholic fatty liver disease in obese Egyptian children |
| title_full_unstemmed | Genetic polymorphisms in non-alcoholic fatty liver disease in obese Egyptian children |
| title_short | Genetic polymorphisms in non-alcoholic fatty liver disease in obese Egyptian children |
| title_sort | genetic polymorphisms in non alcoholic fatty liver disease in obese egyptian children |
| topic | Egyptian children microsomal triglyceride transfer protein manganese superoxide dismutase nonalcoholic steatohepatitis obesity |
| url | http://www.saudijgastro.com/article.asp?issn=1319-3767;year=2011;volume=17;issue=4;spage=265;epage=270;aulast=El-Koofy |
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