Balkan Journal of Medical Genetics

GENETIC ASSOCIATION OF SOLUTE CARRIER TRANSPORTER GENE VARIANTS WITH METFORMIN RESPONSE
Abrahams-October Z1, Xhakaza L1, Pearce B1,*, Mandisa Masilela C1, Benjeddou M1, Vincent Adeniyi O2, Johnson R3,4, Jebio Ongole J5
*Corresponding Author: Brendon Pearce, Ph.D., Department of Biotechnology, University of the Western Cape, Private Bag X17, Bellville 7535, South Africa. Tel.: +2721-959-2080. Fax: +2721-959- 2648. E-mail: brendon.biff@gmail.com
page: 47

RESULTS

Table 1 displays the clinical and biochemical demographics of the study population. All SNPs are within HWE with two SNPs (rs1801282 and rs6265) being mono-morphic (Table 2). Hardy-Weinberg equilibrium p values ranged between 0.145-0.932 for all of the studied SNPs in the population. Genotype and allele distribution of the 17 SNPS were determined in all the study participants (Table 3). Among the SNPs selected for this study, four displayed significant association between T2DM and/or genotype or allele frequencies prior to adjustment (Table 4). The four significantly associated SNPs identified are: rs316009, rs316019, rs4810083 and rs578427. Prior to adjustment, the heterozygous genotype, i.e. CT, and the minor allele T of rs316009 demonstrated significant association between T2DM and treatment response [p = 0.023 (OR: 0.20; 95% Cl: 0.05-0.81) and p = 0.027 (OR: 0.22; 95% Cl: 0.06-0.84) respectively] (Table 4). The minor A allele of rs316019 with a p value of 0.026 (OR: 0.35; 95% Cl: 0.14-0.88) also showed a significant association (Table 4). The heterozygous genotype, i.e. CT of rs4810083 with a p value of 0.021 (OR: 0.38; 95% Cl: 0.17-0.86) and the homozygous minor genotype CC of rs578427 with a p value of 0.022 (OR: 4.67; 95% Cl: 1.25-1.83) also demonstrated a significant association between T2DM and response (Table 4). However, after adjustment, only the T allele of rs316009 with a p = 0.044 (OR: 0.85; 95% Cl: 0.01-0.93) and the CT genotype of rs4810083 with a p = 0.049 (OR: 2.80; 95% Cl: 1.01-7.79) could still be associated with a response to treatment. Lastly, after Bonferroni correction, both rs316009 with a p = 0.088 and rs4810083 with a p = 0.098, showed a lack of association.

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