Association of Upstream Transcription Factor 1 Gene (USF1) 306 G > A with Increased Homocysteine Level among Iban Ethnic Groups in Sarawak Population

Mohd Aminudin, Bin Mustapha (2020) Association of Upstream Transcription Factor 1 Gene (USF1) 306 G > A with Increased Homocysteine Level among Iban Ethnic Groups in Sarawak Population. International Medical Journal, 27 (3). pp. 1-4. ISSN 1341-2051

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Abstract

Objective: to determine the polymorphic allele and genotype frequencies of USF1 306 G > A. It aimed to elucidate the association of the polymorphic allele and genotypes with clinical profiles such as total cholesterol (TC), high- density lipoprotein (HDL), low- density lipoprotein (LDL) and homocysteine level in Iban ethnic group in Sarawak. Materials and methods: One hundred and fourteen (114) individuals of the Iban ethnic group were recruited as the study subjects. The Allele Specific PCR (AS-PCR) was used in the genotyping. Association of genotype frequencies and clinical profile was assessed using One Way ANOVA. As for the association of allele frequencies and clinical profile, Independent Sample T test was used. Results: Genotype frequency showed statistical significant difference with homocysteine level with p value less than 0.05. The heterozygous and variant genotypes of Upstream Transcription Factor 1 (USF 1) 306 G > A is significantly associated with high level of homocysteine with F (2,112) = 7.048, p < 0.05. The variant allele of USF 1 306 G > A is also significantly associated with high level of triglycerides with t (-2.116), p value of 0.035. Conclusion: Our results show that the genetic diversity of USF1 gene influences the susceptibility to increased level of homocysteine in the Iban ethnic group of the Malaysian population. This results support the involvement of USF1 mediated pathways in the process of familial hypercholesterolemia (FH).

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