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Association Between The T400K Polymorphism In The ABCG8 Gene and Predisposition to Gallstone Disease
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Saman Milanizadeh1   , Amirhooshang Mohammadalizadeh1 , Pedram Azimzadeh1 , Sara Romani1 , Mohammad Roshani1 , Mahsa Khanyagham1 , Mohammadreza Zali1 , Seyed reza Mohebbi * 2 |
1- research center for gastroentrology and liver disease shahid beheshty university Tehran
2- research center for gastroentrology and liver disease shahid beheshty university Tehran , srmohebbi@gmail.com |
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Abstract: (9186 Views) |
| Introduction: Gallstone disease is a very common disease of gallbladder. Gallstone formation occurs when too much cholesterol is secreted into bile, leading to bile super-saturation and precipitation. Alteration in abcg8 protein which is one of the key transporters in gallbladder could result in increased bile cholesterol level. The aim of this study was to analyze the T400K genetic change that could have an effect on the function of this protein.
Materials & Methods: This study was conducted on 220 people, dividing into two groups of cases (n=111) and controls (n=220). Genotyping was carried out by amplification of the target sequence followed by restriction fragment length polymorphism. Detection of any differences between cases and controls was done via statistic analysis.
Findings: In this study, frequencies of the genotypes C/C, C/T and T/T were 59.5%, 39.5% and 1%, respectively. After statistical analysis of the data, there were no ass-ociations between this polymorphism and gallstone susceptibility.
Discussion & Conclusion: The heterodimer protein, abcg5/abcg8, has a key role in the transportation of cholesterol in gallbladder and any changes in these proteins could result in gallstone formation. We could not find any association between T400K polymorphism and gallstone formation. This differentiation may be a result of genetic drifts among ethnic groups of populations. |
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| Keywords: ABCG8 protein, polymorphism, gall stone, restriction fragment length poly-morphism |
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Full-Text [PDF 399 kb]
(1950 Downloads)
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Type of Study: Research |
Subject:
Molecular Genetics
Received: 2012/04/10 | Accepted: 2013/10/15 | Published: 2013/10/15
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