Biomedical Science Letters (대한의생명과학회지)

The Korean Society for Biomedical Laboratory Sciences (대한의생명과학회)
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Association of ABO genetic Polymorphisms and Type 2 Diabetes Mellitus Susceptibility in the Korean Population

  • Yu-Na Kim (Department of Biomedical Laboratory Science, College of Health and Biomedical Services, Sangji University) ;
  • Sung Won Lee (Department of Biomedical Laboratory Science, College of Health and Biomedical Services, Sangji University) ;
  • Sangwook Park (Department of Biomedical Laboratory Science, College of Health and Biomedical Services, Sangji University)
  • Received : 2024.03.29
  • Accepted : 2024.05.16
  • Published : 2024.06.30
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Abstract

The national diabetes and prediabetes prevalence rate has risen among Korean adolescents and adults. Type 2 diabetes mellitus (T2DM) is commonly interrelated with genetic, metabolic, and environmental risk factors in clinical practice. In this study, we analyzed the association between genetic polymorphisms of the ABO gene with T2DM in the Korean population, we conducted an analysis of gene-phenotype correlation, based on an additive genetic model. A total of 8,840 subjects from the Korea Association REsource (KARE) were selected for this study. Using the genetic and epidemiologic data of 754 T2DM cases and 5721 normal controls from the KARE, single nucleotide polymorphisms (SNPs) in the ABO gene were analyzed for their genetic correlation. As a result, 8 SNPs out of the ABO gene demonstrated statistically significant association with T2DM. Among them, rs657152 in the ABO gene statistically showed the most significant correlation with T2DM (P-value=0.0084, OR=1.15, CI=1.04~1.28). The minor allele of A polymorphism within the intron genetic region of ABO directed increased risk of T2DM. This work reveals a significant association between genetic polymorphism in the ABO gene and T2DM. This finding suggested that ABO SNPs markers might be a genetic correlation to the etiology of T2DM.

Keywords

Acknowledgement

This study was conducted with bioresources from National Biobank of Korea, The Korea Disease Control and Prevention Agency, Republic of Korea (KBN-2022-089).

References

  1. Amundadottir L, Kraft P, Stolzenberg-Solomon RZ, Fuchs CS, Petersen GM, Arslan AA, et al. Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. Nat Genet. 2009. 41: 986-990.
  2. Bae JH, Han KD, Ko SH, Yang YS, Choi JH, Choi KM, Kwon HS, Won KC. Diabetes Fact Sheet in Korea 2021. Diabetes Metab J. 2022. 46: 417-426.
  3. Barron E, Bakhai C, Kar P, Weaver A, Bradley D, Ismail H, Knighton P, Holman N, Khunti K, Sattar N, Wareham NJ, Young B, Valabhji J. Associations of type 1 and type 2 diabetes with COVID-19-related mortality in England: a whole-population study. Lancet Diabetes Endocrinol. 2020. 8: 813-822.
  4. Cho YS, Go MJ, Kim YJ, Heo JY, Oh JH, Ban HJ, et al. A largescale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat Genet. 2009. 41: 527-534.
  5. Ellinghaus D, Degenhardt F, Bujanda L, Buti M, Albillos A, Invernizzi P, et al. Genomewide Association Study of Severe Covid-19 with Respiratory Failure. N Engl J Med. 2020. 383: 1522-1534.
  6. Gasso P, Mas S, Alvarez S, Ortiz J, Sotoca JM, Francino A, et al. A common variant of the ABO gene protects against hypertension in a Spanish population. Hypertens Res. 2012. 35: 592-596.
  7. Glass RI, Holmgren J, Haley CE, Khan MR, Svennerholm AM, Stoll BJ, Belayet Hossain KM, Black RE, Yunus M, Barua D. Predisposition for cholera of individuals with O blood group. Possible evolutionary significance. Am J Epidemiol. 1985. 121: 791-796.
  8. Landsteiner K. Zur Kenntnis der antifermentativen, lytischen und agglutinierenden Wirkungen des Blutseruns und der Lymphe. Z Bakteriol. 1900. 27: 357-362.
  9. Lim S, Bae JH, Kwon HS, Nauck MA. COVID-19 and diabetes mellitus: from pathophysiology to clinical management. Nat Rev Endocrinol. 2021. 17: 11-30.
  10. Moon SJ, Rhee EJ, Jung JH, Han KD, Kim SR, Lee WY, Yoon KH. Independent Impact of Diabetes on the Severity of Coronavirus Disease 2019 in 5,307 Patients in South Korea: A Nationwide Cohort Study. Diabetes Metab J. 2020. 44: 737-746.
  11. Muller JA, Gross R, Conzelmann C, Kruger J, Merle U, Steinhart J, et al. SARS-CoV-2 infects and replicates in cells of the human endocrine and exocrine pancreas. Nat Metab. 2021. 3: 149-165.
  12. Qi L, Cornelis MC, Kraft P, Jensen M, van Dam RM, Sun Q, et al. Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes. Hum Mol Genet. 2010. 19: 1856-1862.
  13. Reiterer M, Rajan M, Gomez-Banoy N, Lau JD, Gomez-Escobar LG, Ma L, et al. Hyperglycemia in acute COVID-19 is characterized by insulin resistance and adipose tissue infectivity by SARS-CoV-2. Cell Metab. 2021. 33: 2174-2188.e5. Erratum in: Cell Metab. 2021. 33: 2484.
  14. Rowe JA, Handel IG, Thera MA, Deans AM, Lyke KE, Kone A, Diallo DA, Raza A, Kai O, Marsh K, Plowe CV, Doumbo OK, Moulds JM. Blood group O protects against severe Plasmodium falciparum malaria through the mechanism of reduced rosetting. Proc Natl Acad Sci U S A. 2007. 104: 17471-17476.
  15. Schellenberg ES, Dryden DM, Vandermeer B, Ha C, Korownyk C. Lifestyle interventions for patients with and at risk for type 2 diabetes: a systematic review and meta-analysis. Ann Intern Med. 2013. 15; 159: 543-551.
  16. Shaw JE, Zimmet PZ, McCarty D, de Courten M. Type 2 diabetes worldwide according to the new classification and criteria. Diabetes Care. 2000. 23: B5-10.
  17. Sun H, Saeedi P, Karuranga S, Pinkepank M, Ogurtsova K, Duncan BB, Stein C, Basit A, Chan JCN, Mbanya JC, Pavkov ME, Ramachandaran A, Wild SH, James S, Herman WH, Zhang P, Bommer C, Kuo S, Boyko EJ, Magliano DJ. IDF Diabetes Atlas: Global, regional and country-level diabetes prevalence estimates for 2021 and projections for 2045. Diabetes Res Clin Pract. 2022. 183: 109119.
  18. Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, et al. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun. 2015. 6: 5897.
  19. Williamson EJ, Walker AJ, Bhaskaran K, Bacon S, Bates C, Morton CE, et al. Factors associated with COVID-19-related death using OpenSAFELY. Nature. 2020. 584: 430-436.
  20. Yamamoto F, Clausen H, White T, Marken J, Hakomori S. Molecular genetic basis of the histo-blood group ABO system. Nature. 1990. 345: 229-233.
  21. Yamamoto F, Marken J, Tsuji T, White T, Clausen H, Hakomori S. Cloning and characterization of DNA complementary to human UDP-GalNAc: Fuc alpha 1----2Gal alpha 1----3GalNAc transferase (histo-blood group A transferase) mRNA. J Biol Chem. 1990. 265: 1146-1151.
  22. Zheng Y, Ley SH, Hu FB. Global aetiology and epidemiology of type 2 diabetes mellitus and its complications. Nat Rev Endocrinol. 2017. 14: 88-98.