Selected variations of the organic anion transporting polypeptide 2 (OATP2) gene in Malay neonates with and without hyperbilirubinaemia

Neonatal hyperbilirubinaemia is caused by many possible risk factors, including genetic factor. The OATP2 protein, which is encoded by OATP2 gene plays a crucial role in transporting bilirubin from the circulation to the hepatocytes. There are several genetic variations that have been reported an...

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Main Author:	Nawawi, Noor Namirah
Format:	Thesis
Language:	English
Published:	2015
Subjects:	RJ Pediatrics
Online Access:	http://eprints.usm.my/43587/1/Dr.%20Noor%20Namirah%20Nawawi-24%20pages.pdf
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id	my-usm-ep.43587
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spelling	my-usm-ep.435872019-04-12T05:25:36Z Selected variations of the organic anion transporting polypeptide 2 (OATP2) gene in Malay neonates with and without hyperbilirubinaemia 2015-10 Nawawi, Noor Namirah RJ Pediatrics Neonatal hyperbilirubinaemia is caused by many possible risk factors, including genetic factor. The OATP2 protein, which is encoded by OATP2 gene plays a crucial role in transporting bilirubin from the circulation to the hepatocytes. There are several genetic variations that have been reported and each of them was presence at different frequencies between population to population. The role of genetic variations of the OATP2 gene in the development of neonatal hyperbilirubinaemia is still controversial and there is lack of study investigated the association between the presence of genetic variations and neonatal hyperbilirubinaemia including in Malay population in Malaysia. The appropriate choice of screening method is also important to allow robust and accurate genotyping results. The objectives of this study is to screen for the selected genetic variations of the OATP2 gene using high resolution melting (HRM) analysis, to determine the genotype, allele as well as haplotype frequencies between hyperbilirubinaemia and non-hyperbilirubinaemia groups and to determine the association between genotypes and haplotypes with the development of neonatal hyperbilirubinaemia. Buccal cells sample of 264 neonates were collected and DNA was extracted using commercialized DNA extraction kit. HRM analysis was performed to screen for the selected genetic variations and samples that have different pattern of melt curve were confirmed by DNA sequencing analysis. Out of 14 genetic variations that were selected, 9 were presence in Malay neonates with the most common is c.388 A>G.This study also shows that there was no significant association between genetic variations of the OATP2 gene with neonatal hyperbilirubinaemia in Malay neonates except for heterozygous mutant genotype of c.597 C>T that shows high frequency in non-hyperbilirubinaemia group. The analysis on the association between serum bilirubin levels and genotypes found there was a significant association of g.-11187 G>A with serum bilirubin levels. However, the analysis on the association between serum bilirubin levels and haplotypes of other genetic variations shows no significant differences. Thus, further study need to be conducted for confirmation. 2015-10 Thesis http://eprints.usm.my/43587/ http://eprints.usm.my/43587/1/Dr.%20Noor%20Namirah%20Nawawi-24%20pages.pdf application/pdf en public masters Universiti Sains Malaysia Pusat Pengajian Sains Perubatan
institution	Universiti Sains Malaysia
collection	USM Institutional Repository
language	English
topic	RJ Pediatrics
spellingShingle	RJ Pediatrics Nawawi, Noor Namirah Selected variations of the organic anion transporting polypeptide 2 (OATP2) gene in Malay neonates with and without hyperbilirubinaemia
description	Neonatal hyperbilirubinaemia is caused by many possible risk factors, including genetic factor. The OATP2 protein, which is encoded by OATP2 gene plays a crucial role in transporting bilirubin from the circulation to the hepatocytes. There are several genetic variations that have been reported and each of them was presence at different frequencies between population to population. The role of genetic variations of the OATP2 gene in the development of neonatal hyperbilirubinaemia is still controversial and there is lack of study investigated the association between the presence of genetic variations and neonatal hyperbilirubinaemia including in Malay population in Malaysia. The appropriate choice of screening method is also important to allow robust and accurate genotyping results. The objectives of this study is to screen for the selected genetic variations of the OATP2 gene using high resolution melting (HRM) analysis, to determine the genotype, allele as well as haplotype frequencies between hyperbilirubinaemia and non-hyperbilirubinaemia groups and to determine the association between genotypes and haplotypes with the development of neonatal hyperbilirubinaemia. Buccal cells sample of 264 neonates were collected and DNA was extracted using commercialized DNA extraction kit. HRM analysis was performed to screen for the selected genetic variations and samples that have different pattern of melt curve were confirmed by DNA sequencing analysis. Out of 14 genetic variations that were selected, 9 were presence in Malay neonates with the most common is c.388 A>G.This study also shows that there was no significant association between genetic variations of the OATP2 gene with neonatal hyperbilirubinaemia in Malay neonates except for heterozygous mutant genotype of c.597 C>T that shows high frequency in non-hyperbilirubinaemia group. The analysis on the association between serum bilirubin levels and genotypes found there was a significant association of g.-11187 G>A with serum bilirubin levels. However, the analysis on the association between serum bilirubin levels and haplotypes of other genetic variations shows no significant differences. Thus, further study need to be conducted for confirmation.
format	Thesis
qualification_level	Master's degree
author	Nawawi, Noor Namirah
author_facet	Nawawi, Noor Namirah
author_sort	Nawawi, Noor Namirah
title	Selected variations of the organic anion transporting polypeptide 2 (OATP2) gene in Malay neonates with and without hyperbilirubinaemia
title_short	Selected variations of the organic anion transporting polypeptide 2 (OATP2) gene in Malay neonates with and without hyperbilirubinaemia
title_full	Selected variations of the organic anion transporting polypeptide 2 (OATP2) gene in Malay neonates with and without hyperbilirubinaemia
title_fullStr	Selected variations of the organic anion transporting polypeptide 2 (OATP2) gene in Malay neonates with and without hyperbilirubinaemia
title_full_unstemmed	Selected variations of the organic anion transporting polypeptide 2 (OATP2) gene in Malay neonates with and without hyperbilirubinaemia
title_sort	selected variations of the organic anion transporting polypeptide 2 (oatp2) gene in malay neonates with and without hyperbilirubinaemia
granting_institution	Universiti Sains Malaysia
granting_department	Pusat Pengajian Sains Perubatan
publishDate	2015
url	http://eprints.usm.my/43587/1/Dr.%20Noor%20Namirah%20Nawawi-24%20pages.pdf
_version_	1747821242028654592

Selected variations of the organic anion transporting polypeptide 2 (OATP2) gene in Malay neonates with and without hyperbilirubinaemia

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