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Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis


Ines Barroso and colleagues identify a genetic variant that leads to reduced levels of HbA1c in African American adults; 2% of this population are at risk of missed diagnosis for diabetes.


Vyšlo v časopise: Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. PLoS Med 14(9): e32767. doi:10.1371/journal.pmed.1002383
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pmed.1002383

Souhrn

Ines Barroso and colleagues identify a genetic variant that leads to reduced levels of HbA1c in African American adults; 2% of this population are at risk of missed diagnosis for diabetes.


Zdroje

1. (2015) IDAtE. https://www.idf.org/e-library/epidemiology-research/diabetes-atlas/13-diabetes-atlas-seventh-edition.html.

2. Franklin CS, Aulchenko YS, Huffman JE, Vitart V, Hayward C, Polasek O, et al. The TCF7L2 diabetes risk variant is associated with HbA(1)(C) levels: a genome-wide association meta-analysis. Ann Hum Genet. 2010;74(6):471–8. doi: 10.1111/j.1469-1809.2010.00607.x 20849430.

3. Pare G, Chasman DI, Parker AN, Nathan DM, Miletich JP, Zee RY, et al. Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study. PLoS Genet. 2008;4(12):e1000312. doi: 10.1371/journal.pgen.1000312 19096518; PubMed Central PMCID: PMC2596965.

4. Soranzo N, Sanna S, Wheeler E, Gieger C, Radke D, Dupuis J, et al. Common variants at 10 genomic loci influence hemoglobin A(1)(C) levels via glycemic and nonglycemic pathways. Diabetes. 2010;59(12):3229–39. doi: 10.2337/db10-0502 20858683; PubMed Central PMCID: PMC2992787.

5. Chen P, Takeuchi F, Lee JY, Li H, Wu JY, Liang J, et al. Multiple Non-glycemic Genomic Loci Are Newly Associated with Blood Level of Glycated Hemoglobin in East Asians. Diabetes. 2014. doi: 10.2337/db13-1815 24647736.

6. Ryu J, Lee C. Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study. Hum Mutat. 2012;33(4):655–9. doi: 10.1002/humu.22040 22290723.

7. Chen P, Ong RT, Tay WT, Sim X, Ali M, Xu H, et al. A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry. PLoS One. 2013;8(11):e79767. doi: 10.1371/journal.pone.0079767 24244560; PubMed Central PMCID: PMCPMC3820602.

8. Bry L, Chen PC, Sacks DB. Effects of hemoglobin variants and chemically modified derivatives on assays for glycohemoglobin. Clin Chem. 2001;47(2):153–63. 11159762.

9. Krauss JS, Hahn DA, Harper D, Shell S, Baisden CR. The affinity glycated hemoglobin in a family with hereditary spherocytosis and in other non-hemoglobinopathic hemolytic anemias. Ann Clin Lab Sci. 1987;17(5):331–8. 2445253.

10. Menke A, Rust KF, Savage PJ, Cowie CC. Hemoglobin A1c, fasting plasma glucose, and 2-hour plasma glucose distributions in U.S. population subgroups: NHANES 2005–2010. Ann Epidemiol. 2014;24(2):83–9. doi: 10.1016/j.annepidem.2013.10.008 24246264; PubMed Central PMCID: PMC3946694.

11. Maruthur NM, Kao WH, Clark JM, Brancati FL, Cheng CY, Pankow JS, et al. Does genetic ancestry explain higher values of glycated hemoglobin in African Americans? Diabetes. 2011;60(9):2434–8. doi: 10.2337/db11-0319 21788574; PubMed Central PMCID: PMC3161314.

12. Venkataraman K, Kao SL, Thai AC, Salim A, Lee JJ, Heng D, et al. Ethnicity modifies the relation between fasting plasma glucose and HbA1c in Indians, Malays and Chinese. Diabet Med. 2012;29(7):911–7. doi: 10.1111/j.1464-5491.2012.03599.x 22283416; PubMed Central PMCID: PMC3504343.

13. Lacy ME, Wellenius GA, Sumner AE, Correa A, Carnethon MR, Liem RI, et al. Association of Sickle Cell Trait With Hemoglobin A1c in African Americans. JAMA. 2017;317(5):507–15. doi: 10.1001/jama.2016.21035 28170479.

14. Little RR, Rohlfing CL, Sacks DB, National Glycohemoglobin Standardization Program Steering C. Status of hemoglobin A1c measurement and goals for improvement: from chaos to order for improving diabetes care. Clin Chem. 2011;57(2):205–14. doi: 10.1373/clinchem.2010.148841 21148304.

15. Voight BF, Kang HM, Ding J, Palmer CD, Sidore C, Chines PS, et al. The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet. 2012;8(8):e1002793. doi: 10.1371/journal.pgen.1002793 22876189; PubMed Central PMCID: PMC3410907.

16. International HapMap C, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, et al. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007;449(7164):851–61. doi: 10.1038/nature06258 17943122; PubMed Central PMCID: PMC2689609.

17. Scott RA, Lagou V, Welch RP, Wheeler E, Montasser ME, Luan J, et al. Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet. 2012;44(9):991–1005. doi: 10.1038/ng.2385 22885924; PubMed Central PMCID: PMC3433394.

18. Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics. 2010;26(17):2190–1. doi: 10.1093/bioinformatics/btq340 20616382; PubMed Central PMCID: PMC2922887.

19. Devlin B, Roeder K. Genomic control for association studies. Biometrics. 1999;55(4):997–1004. 11315092.

20. Morris AP. Transethnic meta-analysis of genomewide association studies. Genet Epidemiol. 2011;35(8):809–22. doi: 10.1002/gepi.20630 22125221; PubMed Central PMCID: PMC3460225.

21. Pe'er I, Yelensky R, Altshuler D, Daly MJ. Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol. 2008;32(4):381–5. doi: 10.1002/gepi.20303 18348202.

22. Yang J, Lee SH, Goddard ME, Visscher PM. GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet. 2011;88(1):76–82. doi: 10.1016/j.ajhg.2010.11.011 21167468; PubMed Central PMCID: PMC3014363.

23. Yang J, Ferreira T, Morris AP, Medland SE, Genetic Investigation of ATC, Replication DIG, et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat Genet. 2012;44(4):369–75, S1-3. doi: 10.1038/ng.2213 22426310; PubMed Central PMCID: PMC3593158.

24. Manning AK, Hivert MF, Scott RA, Grimsby JL, Bouatia-Naji N, Chen H, et al. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet. 2012;44(6):659–69. doi: 10.1038/ng.2274 22581228; PubMed Central PMCID: PMC3613127.

25. Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, et al. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet. 2010;42(2):142–8. doi: 10.1038/ng.521 20081857; PubMed Central PMCID: PMC2922003.

26. Strawbridge RJ, Dupuis J, Prokopenko I, Barker A, Ahlqvist E, Rybin D, et al. Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes. 2011;60(10):2624–34. doi: 10.2337/db11-0415 21873549; PubMed Central PMCID: PMC3178302.

27. van der Harst P, Zhang W, Mateo Leach I, Rendon A, Verweij N, Sehmi J, et al. Seventy-five genetic loci influencing the human red blood cell. Nature. 2012;492(7429):369–75. doi: 10.1038/nature11677 23222517; PubMed Central PMCID: PMC3623669.

28. Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, et al. Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet. 2010;42(3):210–5. doi: 10.1038/ng.531 20139978.

29. Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G, et al. New gene functions in megakaryopoiesis and platelet formation. Nature. 2011;480(7376):201–8. doi: 10.1038/nature10659 22139419; PubMed Central PMCID: PMCPMC3335296.

30. Wray NR, Yang J, Hayes BJ, Price AL, Goddard ME, Visscher PM. Pitfalls of predicting complex traits from SNPs. Nat Rev Genet. 2013;14(7):507–15. doi: 10.1038/nrg3457 23774735; PubMed Central PMCID: PMCPMC4096801.

31. Cornelis MC, Qi L, Zhang C, Kraft P, Manson J, Cai T, et al. Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry. Ann Intern Med. 2009;150(8):541–50. 19380854; PubMed Central PMCID: PMC3825275.

32. Leong A. Is there a need for neonatal screening of glucose-6-phosphate dehydrogenase deficiency in Canada? Mcgill J Med. 2007;10(1):31–4. 18523629; PubMed Central PMCID: PMC2323536.

33. Motulsky AG, Stamatoyannopoulos G. Clinical implications of glucose-6-phosphate dehydrogenase deficiency. Ann Intern Med. 1966;65(6):1329–34. 5333234.

34. Centers for Disease Control and Prevention (CDC). National Center for Health Statistics (NCHS). National Health and Nutrition Examination Survey Data. Hyattsville, MD: U.S. Department of Health and Human Services, Centers for Disease Control and Prevention. 2013–2014.

35. Luzzatto L, Usanga FA, Reddy S. Glucose-6-phosphate dehydrogenase deficient red cells: resistance to infection by malarial parasites. Science. 1969;164(3881):839–42. 4889647.

36. United States Census Bureau. American FactFinder. Available from: http://factfinder.census.gov/faces/tableservices/jsf/pages/productview.xhtml?pid=ACS_14_1YR_S0201&prodType=table.

37. Selvin E, Steffes MW, Zhu H, Matsushita K, Wagenknecht L, Pankow J, et al. Glycated hemoglobin, diabetes, and cardiovascular risk in nondiabetic adults. N Engl J Med. 2010;362(9):800–11. doi: 10.1056/NEJMoa0908359 20200384; PubMed Central PMCID: PMC2872990.

38. Selvin E, Ning Y, Steffes MW, Bash LD, Klein R, Wong TY, et al. Glycated hemoglobin and the risk of kidney disease and retinopathy in adults with and without diabetes. Diabetes. 2011;60(1):298–305. doi: 10.2337/db10-1198 20978092; PubMed Central PMCID: PMCPMC3012185.

39. Cowie CC, Rust KF, Byrd-Holt DD, Gregg EW, Ford ES, Geiss LS, et al. Prevalence of diabetes and high risk for diabetes using A1C criteria in the U.S. population in 1988–2006. Diabetes Care. 2010;33(3):562–8. doi: 10.2337/dc09-1524 20067953; PubMed Central PMCID: PMC2827508.

40. Selvin E, Parrinello CM, Sacks DB, Coresh J. Trends in prevalence and control of diabetes in the United States, 1988–1994 and 1999–2010. Ann Intern Med. 2014;160(8):517–25. doi: 10.7326/M13-2411 24733192; PubMed Central PMCID: PMC4442608.

41. Watchko JF, Kaplan M, Stark AR, Stevenson DK, Bhutani VK. Should we screen newborns for glucose-6-phosphate dehydrogenase deficiency in the United States? J Perinatol. 2013;33(7):499–504. doi: 10.1038/jp.2013.14 23429543.

42. Chu CS, Bancone G, Moore KA, Win HH, Thitipanawan N, Po C, et al. Haemolysis in G6PD Heterozygous Females Treated with Primaquine for Plasmodium vivax Malaria: A Nested Cohort in a Trial of Radical Curative Regimens. PLoS Med. 2017;14(2):e1002224. doi: 10.1371/journal.pmed.1002224 28170391.

43. Danescu LG, Levy S, Levy J. Markedly low hemoglobin A1c in a patient with an unusual presentation of beta-thalassemia minor. Endocr Pract. 2010;16(1):89–92. doi: 10.4158/EP09160.CR 19703808.

44. American Diabetes A. 2. Classification and Diagnosis of Diabetes. Diabetes Care. 2017;40(Suppl 1):S11–S24. doi: 10.2337/dc17-S005 27979889.

45. Ziemer DC, Kolm P, Weintraub WS, Vaccarino V, Rhee MK, Twombly JG, et al. Glucose-independent, black-white differences in hemoglobin A1c levels: a cross-sectional analysis of 2 studies. Ann Intern Med. 2010;152(12):770–7. doi: 10.7326/0003-4819-152-12-201006150-00004 20547905.

46. Herman WH, Ma Y, Uwaifo G, Haffner S, Kahn SE, Horton ES, et al. Differences in A1C by race and ethnicity among patients with impaired glucose tolerance in the Diabetes Prevention Program. Diabetes Care. 2007;30(10):2453–7. doi: 10.2337/dc06-2003 17536077; PubMed Central PMCID: PMC2373980.

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