대한임상검사과학회지 (Korean Journal of Clinical Laboratory Science)

  • 제56권1호
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  • Pages.66-72
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  • 2024
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  • 1738-3544(pISSN)
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  • 2288-1662(eISSN)
대한임상검사과학회 (Korean Society for Clinical Laboratory Science)
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한국인 ABO 유전자 다형성과 이상지질혈증의 연관성

Association of ABO Genetic Polymorphisms and Dyslipidemia in Korean Population

  • 송윤주 (상지대학교 보건의료대학 임상병리학과) ;
  • 이성원 (상지대학교 보건의료대학 임상병리학과) ;
  • 진현석 (호서대학교 생명보건대학 임상병리학과) ;
  • 박상욱 (상지대학교 보건의료대학 임상병리학과)
  • Yoon-Joo SONG (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) ;
  • Hyun-Seok JIN (Department of Biomedical Laboratory Science, College of Life and Health Sciences, Hoseo University) ;
  • Sangwook PARK (Department of Biomedical Laboratory Science, College of Health and Biomedical Services, Sangji University)
  • 투고 : 2023.12.03
  • 심사 : 2024.01.07
  • 발행 : 2024.03.31
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초록

지질 대사장애는 임상에서 흔히 볼 수 있는 질환이다. 이상지질혈증(dyslipidemia)과 그 유병률은 전세계적으로 심혈관질환의 이환율 및 사망률과 밀접한 관련이 있다. 한국인 대상 40~64세 성인 중년층을 대상으로 ABO 유전자의 다형성과 이상지질혈증과의 연관성을 확인하기 위해 유전자 분석을 실시하였다. 본 연구는 한국인 유전체분석자료(Korean Association REsource, KARE)에서 총 6,750명의 피험자를 선정하였다. KARE 자료의 이상지질혈증 환자 4,403명과 정상 대조군 2,347명의 유전자형 데이터를 사용하여 ABO 유전자의 단일염기다형성(single nucleotide polymorphisms, SNPs)과 유전적 상관관계를 분석하였다. 그 결과 ABO 유전자 중 11개 SNPs 가 이상지질혈증과 통계적으로 유의미한 연관성을 나타내었다. 이 중 ABO 유전자의 rs8176707이 통계적으로 이상지질혈증과 가장 유의한 상관관계를 보였다(P-value=0.002, odds ratio=0.82, 95% confidence interval 0.78~0.86). ABO minor allele T는 이상지질혈증 위험을 감소시키는 것으로 나타났다. 본 연구는 ABO 유전자의 유전적 다형성과 이상지질혈증 사이의 유의미한 연관성을 밝힌 연구이다. 이러한 결과는 ABO의 SNPs가 이상지질혈증의 원인과 유전적 상관관계가 있음을 시사한다고 하겠다.

Lipid metabolic disorders are commonly encountered in clinical practice. Dyslipidemia and its prevalence rate are strongly associated with the morbidity and mortality of cardiovascular disease worldwide. We conducted a genetic analysis to determine the association between genetic polymorphisms of the ABO gene in adults middle-aged (40~69 years) with dyslipidemia in the Korean population. A total of 6,750 subjects from the Korea Association REsource (KARE) were selected for this study. Using the genetic and epidemiologic data of 4,403 dyslipidemia cases and 2,347 normal controls from the KARE, single nucleotide polymorphisms (SNPs) in ABO gene were analyzed for their genetic correlation. Eleven SNPs out of the ABO gene demonstrated a statistically significant association with dyslipidemia. Among them, rs8176707 in ABO gene statistically showed the most significant correlation with dyslipidemia (P-value=0.002, odds ratio=0.82, 95% confidence interval=0.78~0.86). The minor allele of T polymorphism within the ABO intron genetic region was associated with a decreased risk of dyslipidemia. This study uncovered a significant association between genetic polymorphism in the ABO gene and dyslipidemia. This finding suggest that ABO SNPs markers have a genetic correlation with the etiology of dyslipidemia.

키워드

과제정보

This research was supported by Sangji University in 2023. This study was conducted with bioresources from National Biobank of Korea, The Korea Disease Control and Prevention Agency, Republic of Korea (KBN-2022-089).

참고문헌

  1. Korean Society of Lipid and Atherosclerosis (KSoLA). Dyslipidemia fact sheets in Korea, 2020 [Internet]. KSoLA [cited 2023 November 10]. Available from: https://www.lipid.or.kr/reference/factsheets.php?mode=view&idx=1053
  2. Stewart J, McCallin T, Martinez J, Chacko S, Yusuf S. Hyperlipidemia. Pediatr Rev. 2020;41:393-402. https://doi.org/10.1542/pir.2019-0053
  3. 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. https://doi.org/10.1038/345229a0
  4. Clausen H, Hakomori S. ABH and related histo-blood group antigens; immunochemical differences in carrier isotypes and their distribution. Vox Sang. 1989;56:1-20. https://doi.org/10.1111/j.1423-0410.1989.tb03040.x
  5. Daniels G. Human blood groups. 3rd ed. John Wiley & Sons: 2013. p11-95.
  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. https://doi.org/10.1038/hr.2011.218
  7. 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. https://doi.org/10.1093/hmg/ddq057
  8. 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. https://doi.org/10.1038/ng.357
  9. Korean Society of Lipid and Atherosclerosis (KSoLA) Committee of Clinical Practice Guideline. Korean guidelines for the management of dyslipidemia. 5th ed. KSoLA: 2022. p31-34.
  10. Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, et al. A saturated map of common genetic variants associated with human height. Nature. 2022;610:704-712. https://doi.org/10.1038/s41586-022-05275-y
  11. Porcu E, Medici M, Pistis G, Volpato CB, Wilson SG, Cappola AR, et al. A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. PLoS Genet. 2013;9:e1003266. https://doi.org/10.1371/journal.pgen.1003266
  12. Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA, et al. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. PLoS One. 2012;7:e51954. https://doi.org/10.1371/journal.pone.0051954
  13. Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nat Genet. 2021;53:1415-1424. https://doi.org/10.1038/s41588-021-00931-x
  14. Schmitz D, Ek WE, Berggren E, Hoglund J, Karlsson T, Johansson A. Genome-wide association study of estradiol levels and the causal effect of estradiol on bone mineral density. J Clin Endocrinol Metab. 2021;106:e4471-e4486. https://doi.org/10.1210/clinem/dgab507
  15. 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. https://doi.org/10.1056/nejmoa2020283
  16. Zhao X, Wu X, Xiao J, Zhang L, Hao Y, Xiao C, et al. A large-scale genome-wide cross-trait analysis for the effect of COVID-19 on female-specific cancers. iScience. 2023;26:107497. https://doi.org/10.1016/j.isci.2023.107497
  17. Makivuokko H, Lahtinen SJ, Wacklin P, Tuovinen E, Tenkanen H, Nikkila J, et al. Association between the ABO blood group and the human intestinal microbiota composition. BMC Microbiol. 2012;12:94. https://doi.org/10.1186/1471-2180-12-94
  18. Abegaz SB. Human ABO blood groups and their associations with different diseases. Biomed Res Int. 2021;2021:6629060. https://doi.org/10.1155/2021/6629060
  19. Groot HE, Villegas Sierra LE, Said MA, Lipsic E, Karper JC, van der Harst P. Genetically determined ABO blood group and its associations with health and disease. Arterioscler Thromb Vasc Biol. 2020;40:830-838. https://doi.org/10.1161/ATVBAHA.119.313658
  20. Paquette M, Dufour R, Baass A. ABO blood group is a cardiovascular risk factor in patients with familial hypercholesterolemia. J Clin Lipidol. 2018;12:383-389.e1. https://doi.org/10.1016/j.jacl.2017.12.001
  21. Paquette M, Dufour R, Baass A. The montreal-fh-score: a new score to predict cardiovascular events in familial hypercholesterolemia. J Clin Lipidol. 2017;11:80-86. https://doi.org/10.1016/j.jacl.2016.10.004