Wahyuningsih, Hesti and Bahrudin, Bahrudin and Mundhofir, Farmaditya EP (2014) MUTATION IDENTIFICATION OF APOA1 GENE IN SUBJECTS WITH LOW LEVEL OF HIGH DENSITY LIPORRETEIN. Masters thesis, Universitas Diponegoro.

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Abstract

Background: High density lipoprotein cholesterol (HDL-C) is the densest and smallest lipoprotein. The APOA1 mutation shows more acceleration in atherosclerosis process than other gene mutation which encode the main protein of reverse cholesterol transport. This study aimed to identify the predicted pathogenic mutation of APOA1 gene in subject with low level of HDL-C.
Methods: Forty two subjects with low HDL-C level were included. Mutation screening of APOA1 was done by using high resolution melting (HRM) technique. The aberrant graph samples were confirmed by sequencing.
Results: Subjects consisted of 24 males (57.1%) and 18 females (42.9%). The risk factors which may influence the level of HDL-C were as follows age more than 60 years old (26.2%), male (57.1%), smoking (45.2%), obesity (50%) and diabetes mellitus (45.2%). Statistical analysis showed that HDL-C level did not associate with age (p=0.32), gender (p=0.79), smoking (p=0.86), diabetes mellitus (p=0.87) and body mass index (p=0.67). Two polymorphisms were identified in APOA1 gene i.e. 756C/T and 84T/C. The genotypes of 756C/T were C/C, C/T and T/T in 21 (50%), 18 (42.86%) and 3 (7.14%) subjects, respectively. Those genotypes were not significantly associated with HDL-C level (p=0.55).
Conclusion: Two reported polymorphisms i.e. 756C/T and 84T/C were found in APOA1 gene in subjects with low HDL-C level.
Keywords: Low HDL-C level, APOA1 gene, HRM, Sequencing

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