
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
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REFERENCES
1. Ogurtsova K, da Rocha Fernandes JD, Huang Y,
Linnenkamp U, Guariguata L, Cho NH, et al. IDF
Diabetes Atlas: Global estimates for the prevalence of
diabetes for 2015 and 2040. Diabetes Res Clin Pract.
2017; 128: 40-50.
2. International Diabetes Federation. IDF Diabetes
Atlas 8th ed., 2017. Brussels, Belgium. (Available
at: https:// diabetesatlas.org [accessed: July 15 2018].
3. Hoogwerf BJ, Sferra J, Donley BG. Diabetes mellitus-
-overview. Foot Ankle Clin. 2006; 11(4): 703-715.
4. Chawla A, Chawla R, Jaggi S. Microvascular and
macrovascular complications in diabetes mellitus:
Distinct or continuum? Indian J Endocrinol Metab.
2016; 20(4): 546-551.
5. Islam T, Rahman MS, Paul N, Akhteruzzaman S,
Sajib AA. Allele-specific detection of SLC22A2
rs316019 variants associated with metformin disposition
through the kidney. Int J Diabetes and Metab.
2018; 24: 22-28. 6. American Diabetes Association (ADA). Diagnosis
and classification of diabetes mellitus. Diabetes Care.
2014; 37(Suppl 1): S81-S90.
7. World Health Organization. WHO model list of essential
medicines (20th list) [accessed: October 5 2018].
8. Inzucchi SE, Lipska KJ, Mayo H, Bailey CJ, McGuire
DK. Metformin in patients with type 2 diabetes and
kidney disease: A systematic review. JAMA. 2014;
312(24):2668-2675.
9. Singh S, Usman K, Banerjee M. Pharmacogenetic
studies update in type 2 diabetes mellitus. World J
Diabetes. 2016; 7(15): 302-315.
10. Inzucchi SE, Bergenstal RM, Buse JB, Diamant M,
Ferrannini E, Nauck M, et al. Management of hyperglycaemia
in type 2 diabetes: A patient-centered approach.
Position statement of the American Diabetes
Association (ADA) and the European Association for
the Study of Diabetes (EASD). Diabetologia. 2012;
55(6): 1577-1596.
11. Topić E. The role of pharmacogenetics in the treatment
of diabetes mellitus. J Med Biochem. 2014;
33(1): 58-70.
12. Mannino GC, Sesti G. Individualized therapy for type
2 diabetes: Clinical implications of pharmacogenetic
data. Mol Diagn Ther. 2012; 16(5): 285-302.
13. Hermann LS, Scherstén B, Bitzén PO, Kjellström T,
Lindgärde, F, Melander A. Therapeutic comparison
of metformin and sulfonylurea, alone and in various
combinations: A double-blind controlled study.
Diabetes Care. 1994; 17(10): 1100-1109.
14. Cook MN, Girman CJ, Stein PP, Alexander CM.
Initial monotherapy with either metformin or sulphonylureas
often fails to achieve or maintain current
glycaemic goals in patients with type 2 diabetes in
UK primary care. Diabet Med. 2007; 24(4): 350-358.
15. Chen L, Pei JH, Kuang J, Chen HM, Chen Z, Li ZW,
et al. Effect of lifestyle intervention in patients with
type 2 diabetes: A meta-analysis. Metabolism. 2015;
64(2): 338-347.
16. Zia A, Kiani AK, Bhatti A, John P. Genetic susceptibility
to type 2 diabetes and implications for therapy.
J Diabetes Metab. 2013; 4(3): 248.
17. Tzvetkov MV, Vormfelde SV, Balen D, Meineke I,
Schmidt T, Sehrt D, et al. The effects of genetic polymorphisms
in the organic cation transporters OCT1,
OCT2, and OCT3 on the renal clearance of metformin.
Clin Pharmacol Ther. 2009; 86(3): 299-306.
18. Becker ML, Visser LE, Van Schaik RHN, Hofman
A, Uitterlinden AG, Stricker BHC. Genetic variation
in the multidrug and toxin extrusion 1 transporter
protein influences the glucose-lowering effect of metformin
in patients with diabetes: A preliminary study.
Diabetes. 2009; 58(3): 745-749.
19. Chen L, Takizawa M, Chen E, Schlessinger A,
Segenthelar J, Choi JH, et al. Genetic polymorphisms
in organic cation transporter 1 (OCT1) in Chinese
and Japanese populations exhibit altered function. J
Pharmacol Exp Ther. 2010; 335(1): 42-50.
20. Sanchez-Ibarra HE, Reyes-Cortes LM, Jiang XL, Luna-
Aguirre CM, Aguirre-Trevino D, Morales-Alvarado
IA, et al. Genotypic and phenotypic factors influencing
drug response in Mexican patients with type 2 diabetes
mellitus. Front Pharmacol. 2018; 9: 320.
21. Christensen MMH, Pedersen RS, Stage TB, Brasch-
Andersen C, Nielsen F, Damkier P, et al. A gene-gene
interaction between polymorphisms in the OCT2
and MATE1 genes influences the renal clearance of
metformin. Pharmacogenet Genomics. 2013; 23(10):
526-534.
22. Shokri F, Ghaedi H, Fard SG, Movafagh A, Abediankenari
S, Mahrooz A, et al. Impact of ATM and
SLC22A1 polymorphisms on therapeutic response
to met-formin in Iranian diabetic patients. Int J Mol
Cell Med. 2016; 5(1): 1-7.
23. Iskakova AN, Romanova AA, Aitkulova AM,
Sikhayeva NS, Zholdybayeva EV, Ramanculov EM.
Poly-morphisms in genes involved in the absorption,
distribution, metabolism, and excretion of drugs in the
Kazakhs of Kazakhstan. BMC Genet. 2016; 17: 23.
24. Xhakaza L, Abrahams-October Z, Pearce B, Masilela
CM, Adeniyi OV, Johnson R, et al. Evaluation of the
suitability of 19 pharmacogenomics biomarkers for
individualized metformin therapy for type 2 diabetes
patients. Drug Metabol Pers Ther. 2020; 35(2): j/
dmdi. 2020.35.issue-2/dmpt-2020-0111/dmpt-2020-
0111.xml. doi: 10.1515/dmpt-2020-0111.
25. Lucassen A, Ehlers K, Grobler P, Shezi AL. Allele frequency
data of 14 autosomal STR loci in four major
population groups of South Africa. Int J Legal Med.
2018; 128(2): 275-276.
26. Lane AB, Soodyall H, Arndt S, Ratshikhopha ME,
Jonker E, Freeman C, et al. Genetic substructure in
South African Bantu-speakers: Evidence from autosomal
DNA and Y-chromosome studies. Am J Phys
Anthropol. 2002; 119(2): 175-185.
27. Xiao D, Zhang S, Li X, Yin J, Gong W, Zheng Y,
et al. IL-1B rs1143623 and EEF1A1P11-RPL7P9
rs10783050 polymorphisms affect the glucose-lowing
efficacy of metformin in Chinese overweight or obese type 2 diabetes mellitus patients. Pharmacogenomics.
2015; 16(14): 1621-1629.
28. Omori S, Tanaka Y, Takahashi A, Hirose H, Kashiwagi
A, Kaku K, et al. Association of CDKAL1, IGF2BP2,
CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with
susceptibility to type 2 diabetes in a Japanese population.
Diabetes. 2008; 57(3): 791-795.
29. Kashki Z, Masoumi P, Mahrooz A, Hashemi-Soteh
MB, Bahar A, Alizadeh A. The variant organic cation
transporter 2 (OCT2)-T201M contribute to changes
in insulin resistance in patients with type 2 diabetes
treated with metformin. Diabetes Res Clin Pract.
2015; 108(1): 78-83.
30. Clinical guidelines (CDE). Available at: http://www.
cdediabetes.co.za [accessed: October 30 2018].
31. Pharmacogenomic knowledge base (PharmGKB).
Available at: http://www.pharmgkb.org [accessed:
July 5 2018].
32. Leat N, Benjeddou M, Davison S. Nine-locus
Y-chromosome STR profiling of Caucasian and
Xhosa populations from Cape Town, South Africa.
Forensic Sci Int. 2004; 144(1): 73-75.
33. Li T, Xu X, Xu Y, Jin P, Chen J, Shi Y, et al. PPARG
Polymorphisms are associated with unexplained mild
vision loss in patients with type 2 diabetes mellitus. J
Opthalmol. 2019; 2019: 5284867. doi: 10.1155/2019/
5284867. eCollection 2019.
34. Jiao X, Yang S, Yang Y, Li J, Sun H, Zhang M, et al.
Targeted sequencing analysis of PPARG identifies a
risk variant associated with obstructive sleep apnea
in Chinese Han subjects. Sleep Breath. 2020; 24(1):
167-174.
35. Bhushan B, Guleriab R, Misrac A, Luthrad K,
Kumare G. Association of PPARγ2 (Pro12Ala) and
neuropeptide Y (Leu7Pro) gene polymorphisms with
obstructive sleep apnea in obese Asian Indians. Dis
Markers. 2011; 30(1): 31-38.
36. Zhou J-X, Li H-C, Bai X-J, Chang B-C, Li C-J, Sun
P, et al. Functional Val66Met polymorphism of brainderived
neurotrophic factor in type 2 diabetes with
depression in Han Chinese subjects. Behav Brain
Funct. 2013; 9: 34.
37. Wu L, Xi B, Zhang M, Shen Y, Zhao X, Cheng H, et al.
Associations of six single nucleotide polymorphisms in
obesity related genes with BMI and risk of obesity in
Chinese children. Diabetes. 2010; 59(12): 3085-3089.
38. Hong K, Lim J, Go M, Cho Y, Ahn Y, Han B, et
al. Recapitulation of the association of Val66Met
polymorphism of BDNF gene with BMI in Koreans.
Obesity. 2012; 20(9): 1871-1875.
39. Shugart Y, Chen L, Day I, Lewis S, Timpson S, Yuan
W, et al. Two British women studies replicated the
association between the Val66Met polymorphism in
the brain-derived neurotrophic factor (BDNF) and
BMI. Eur J Hum Genet. 2009; 17(8): 1050-1055.
40. Chen Y, Li S, Brown C, Cheatham S, Castro RA,
Leabman MK, et al. Effect of genetic variation in
the organic cation transporter 2 on the renal elimination
of metformin. Pharmacogenet Genomics. 2009;
19(7): 497-504.
41. Goswami S, Yee SW, Xu F, Sridhar SB, Mosley JD,
Takahashi A, et al. A longitudinal HbA1c model elucidates
genes linked to disease progression on metformin.
Clin Pharmacol Ther. 2016; 100(5): 537-547.
42. Wang ZJ, Yin OQP, Tomlinson B, Chow MSS. OCT2
Polymorphisms and in-vivo renal functional consequence:
Studies with metformin and cimetidine.
Pharmacogenet Genomics. 2008; 18(7): 637-645.
43. Sajib AA, Islam T, Paul N, Yeasmin S. Interaction
of rs316019 variants of SLC22A2 with metformin
and other drugs-an in silico analysis. J Genet Eng
Biotechnol. 2018; 16(2): 769-775.
44. Song IS, Shin HJ, Shim EJ, Jung IS, Kim WY, Shon
JH, et al. Genetic variants of the organic cation transporter
2 influence the disposition of metformin. Clin
Phar-macol Ther. 2008; 84(5):559-562.
45. Zolk O, Solbach TF, König J, Fromm MF. Functional
characterization of the human organic cation transporter
2 variant p.270Ala>Ser. Drug Metab Dispos.
2009; 37(6): 1312-1318.
46. Tkac I, Javorsky M, Klimcakova L, Zidzik J, Gala I,
Babjakova E, et al. A pharmacogenetic association
between a variation in calpain 10 (CAPN10) gene and
the response to metformin treatment in patients with
type 2 diabetes. Eur J Clin Pharmacol. 2015; 71(1):
59-63.
47. Chung J-Y, Cho SK, Kim TH, Kim KH, Jang GH,
Kim CO, et al. Functional characterization of
MATE2-K genetic variants and their effcts on metformin
pharmacokinetics. Pharmacogenet Genomics.
2013; 23(7): 365-373.
48. Speidel JT, Xu M, Abdel-Rahman SZ. Promoter haplotypes
of the ABCB1 gene encoding the p-glycoprotein
differentially affect its promoter cctivity by
altering transcription factor binding. DNA Cell Biol.
2018; 37(12): 973-981.
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