Pharmacogenetic analysis of inter-ethnic variability in the uptake transporter SLCO1B1 gene in Colombian, Mozambican, and Portuguese populations

Mulata Haile Nega; Derbew Fikadu Berhe; Vera Ribeiro

doi:10.1186/s12920-023-01642-4

Pharmacogenetic analysis of inter-ethnic variability in the uptake transporter SLCO1B1 gene in Colombian, Mozambican, and Portuguese populations

BMC Med Genomics. 2023 Sep 1;16(1):207. doi: 10.1186/s12920-023-01642-4.

Authors

Mulata Haile Nega^{1

2}, Derbew Fikadu Berhe^{3

4}, Vera Ribeiro⁵

Affiliations

¹ Department of Medical Biochemistry, School of Medicine, College of Health Sciences, Mekelle University, Mekelle, Ethiopia. hailemulat22@gmail.com.
² Laboratory of Pharmacogenomics and Molecular Toxicology, Center for Molecular and Structural Biomedicine (CBME/CCMAR), University of Algarve, Faro, Algarve, Portugal. hailemulat22@gmail.com.
³ University of Global Health Equity, Kigali, Rwanda.
⁴ Department of Pharmacology and Clinical Pharmacy, School of Pharmacy, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.
⁵ Laboratory of Pharmacogenomics and Molecular Toxicology, Center for Molecular and Structural Biomedicine (CBME/CCMAR), University of Algarve, Faro, Algarve, Portugal.

Abstract

Background: Statin-induced myopathy is reported to be associated with the solute carrier organic anion transporter family member 1B1 gene single nucleotide polymorphism, c.521 T > C. There is no epidemiologic data on this gene polymorphism in several countries. Therefore, this study aimed at assessing the genotype and allele frequencies of the gene variant in three countries.

Methods: This study involved healthy individuals from Colombia, Mozambique, and Portugal. Genomic DNA was isolated from blood samples using the Qiamp DNA Extraction Kit (Qiagen). The isolated DNA was genotyped using novel Polymerase Chain Reaction-Restriction Fragment Length Polymorphism. Microstat and GraphPad QuickCal software were used for the Chi-square test and the evaluation of Hardy-Weinberg equilibrium respectively.

Results: A total of 181 individuals' blood samples were analyzed. Overall, the TT (74.0%) genotype was the highest and the CC (7.8%) was the lowest. Country wise genotypic frequencies were Colombia 47(70.2%) TT, 12(17.9%) TC and 8(11.9%) CC; Mozambique 47(88.7%) TT, 5(9.4%) TC, and 1(1.9%) CC; and Portugal 40(65.6%) TT, 16(26.2%) TC, and 5(8.2%) CC. The reference (T) allele was highest among Mozambicans (93.4%) compared to Colombians (79.1%) and Portuguese (78.7%). Mozambicans showed statistically significant genotypic and allelic frequency differences compared to Colombians (p < 0.01) and Portuguese (p < 0.01).

Conclusions: Overall and country-wise, CC genotype was less frequent and it is relatively high for Colombians and Portuguese populations. This finding may imply statins risk-benefit variability associated with CC genotype among these populations that needs further understanding.

Keywords: Polymorphism; SLCO1B1; SNP; Statins; c.521 T > C.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Colombia
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors*
Liver-Specific Organic Anion Transporter 1 / genetics
Membrane Transport Proteins
Mozambique
Pharmacogenomic Testing*
Portugal

Substances

Membrane Transport Proteins
Hydroxymethylglutaryl-CoA Reductase Inhibitors
SLCO1B1 protein, human
Liver-Specific Organic Anion Transporter 1