Genome Wide Associations of liver function in Sickle Cell Patients in Tanzania

Identification: Mwita, Liberata

Genome Wide Associations of liver function in Sickle Cell Patients in Tanzania
Raphael Sangeda1, Siana Nkya2, Bruno Mmbando1, Liberata Mwita1,*, Ayton Meintjes3, Mamana Mbiyavanga3, Nicola Mulder3, Julie Makani1
1Muhimbili University of Health and Allied Sciences; 2Dar es Salaaam University College of Education; 3University of Capetown, South Africa
*Corresponding author:
Sickle cell disease (SCD) encompasses a group of hemoglobinopathies characterized by a single amino acid substitution in the ß-globin chain. Tanzania is one of the countries burdened by SCD. In individuals with SCD the liver can be affected by a number of complications during treatment. SCD patients that often received multiple transfusions may be at risk for viral hepatitis. For the first time, genome-wide studies examining liver functions tests were performed in the Tanzania SCD cohort to study SNPs that are associated with abnormal liver functions. Sickle cohort contain data of approximately 5000 SCD patients. Out of these, Genome Wide Association Study (GWAS) has been performed for 1,952 individuals where 2,379,855 markers were genotyped on the Illumina Human Omnichip platform. The phenotype parameters that were included in the analysis were aspartate aminotransferase (AST), alkaline phosphatase (ALP), total bilirubin, indirect bilirubin lactate dehydrogenase (LDH) and creatinine. Preliminary analysis showed chromosomes 1, 2, 4, 7, 9, 10, 15, 17 and 19 contain SNPs that are significantly associated with the AST, ALP, total bilirubin, LDH and creatinine. Imputation of the available results is planned. These results have a potential to improve the welfare of sickle cell individuals by giving guidance on the management and treatment of SCD patients.


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