Correlation of human leukocyte antigen gene polymorphism and susceptibility to end-stage renal disease in Sichuan Han nationality population_West China Medical Journal

Authors：

WANG Nian , WU Lijuan , ZHU Lingzhi , PENG Wu , ZHUANG Jie , ZHOU Wenjing , SONG Mengyuan , LI Mei , YE Yuanxin ,  SONG Xingbo

Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China;

Corresponding author：

SONG Xingbo, Email: songxingbo1981@163.com

Keywords：

End-stage renal disease; human leukocyte antigen; gene polymorphism; susceptibility

DOI：

10.7507/1002-0179.202307072

Video：

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Objective To analyze the human leukocyte antigen (HLA) gene polymorphism and haplotype frequency and distribution in Han patients with end stage renal disease (ESRD) in Sichuan province, and explore the correlation of HLA gene polymorphism and haplotype with the susceptibility to ESRD in Sichuan Han patients. Methods Polymerase chain reaction-sequence specific oligonucleotide probe hybridization typing technique was used to detect the HLA-A, -B, -DRB1, and -DQB1 genotypes of Han patients with ESRD and healthy participants. The allele and haplotype frequencies in the ESRD group and the control group were analyzed using SPSS 25.0 and Arlequin 3.5.2.2 softwares. Results A total of 756 ESRD patients and 1118 healthy participants were enrolled. In the four loci of HLA-A, -B, -DRB1, and -DQB1, the frequency of HLA-B*39 allele in the ESRD group was higher than that in the control group [3.37% vs. 2.19%; χ²=4.850, P=0.028, odds ratio (OR)=1.558, 95% confidence interval (CI) (1.047, 2.319)], the frequency of HLA-DQB1*06 allele in the ESRD group was lower than that in the control group [17.39% vs. 21.20%; χ²=8.264, P=0.004, OR=0.783, 95%CI (0.662, 0.925)], and the frequency of HLA-DQB1*04 allele in the ESRD group was higher than that in the control group [7.41% vs. 5.46%; χ²=5.867, P=0.015, OR=1.386, 95%CI (1.063, 1.807)]. The frequencies of 10 haplotypes, including HLA-A*11-B*39, HLA-DRB1*15-DQB1*06, and HLA-DRB1*04-DQB1*04, were significantly different between the ESRD group and the control group (P<0.05), among which 9 haplotypes were possibly susceptible to ESRD and 1 haplotype was possibly protective. Conclusions HLA gene polymorphism is closely related to the susceptibility to ESRD. HLA-B*39 and HLA-DQB1*04 may be susceptible genes for ESRD in Sichuan Han patients, while HLA-DQB1*06 may be a protective gene. In addition, 10 HLA haplotypes are possibly associated with the susceptibility to ESRD in Sichuan Han patients.

Citation： WANG Nian, WU Lijuan, ZHU Lingzhi, PENG Wu, ZHUANG Jie, ZHOU Wenjing, SONG Mengyuan, LI Mei, YE Yuanxin, SONG Xingbo. Correlation of human leukocyte antigen gene polymorphism and susceptibility to end-stage renal disease in Sichuan Han nationality population. West China Medical Journal, 2023, 38(8): 1142-1147. doi: 10.7507/1002-0179.202307072 Copy

1.	《中国围透析期慢性肾脏病管理规范》专家组. 中国围透析期慢性肾脏病管理规范. 中华肾脏病杂志, 2021, 37(8): 690-704.
2.	Ene-Iordache B, Perico N, Bikbov B, et al. Chronic kidney disease and cardiovascular risk in six regions of the world (ISN-KDDC): a cross-sectional study. Lancet Glob Health, 2016, 4(5): e307-e319.
3.	Lv JC, Zhang LX. Prevalence and disease burden of chronic kidney disease. Adv Exp Med Biol, 2019, 1165: 3-15.
4.	Le Pham NM, Ong TP, Vuong NL, et al. HLA types and their association with end-stage renal disease in Vietnamese patients: a cross-sectional study. Medicine (Baltimore), 2022, 101(48): e31856.
5.	Sharma S, Sarnak MJ. Epidemiology: the global burden of reduced GFR: ESRD, CVD and mortality. Nat Rev Nephrol, 2017, 13(8): 447-448.
6.	McCullough KP, Morgenstern H, Saran R, et al. Projecting ESRD incidence and prevalence in the United States through 2030. J Am Soc Nephrol, 2019, 30(1): 127-135.
7.	Satyan S, Rocher LL. Impact of kidney transplantation on the progression of cardiovascular disease. Adv Chronic Kidney Dis, 2004, 11(3): 274-293.
8.	Fejzić E, Karamehić J, Eminović I, et al. HLA genotyping in patients with end-stage renal disease waiting for cadaveric renal transplantation in Federation of Bosnia and Herzegovina. Open Access Maced J Med Sci, 2017, 5(1): 1-5.
9.	Pan Q, Ma X, Chen H, et al. A single center study of protective and susceptible HLA alleles and haplotypes with end-stage renal disease in China. Hum Immunol, 2019, 80(11): 943-947.
10.	Uçar F, Sönmez M, Ermantaş N, et al. The associations of HLA-A, -B, DRB1 alleles and haplotypes in Turkish lymphoma patients. Gene, 2016, 586(2): 263-267.
11.	Edgerly CH, Weimer ET. The past, present, and future of HLA typing in transplantation. Methods Mol Biol, 2018, 1802: 1-10.
12.	Noureen N, Zaidi N. Association between human leukocyte antigen (HLA) and end-stage renal disease (ESRD): a meta-analysis. PeerJ, 2023, 11: e14792.
13.	潘芹芹, 马骁, 樊甦, 等. 江苏七地市汉族人群常见 HLA 单倍型多态性分析. 南京医科大学学报(自然科学版), 2022, 42(10): 1387-1393.
14.	Robson KJ, Ooi JD, Holdsworth SR, et al. HLA and kidney disease: from associations to mechanisms. Nat Rev Nephrol, 2018, 14(10): 636-655.
15.	Hieu HT, Ha NT, Song LH, et al. Association of human leukocyte antigen haplotypes with end-stage renal disease in Vietnamese patients prior to first transplantation. Transplant Proc, 2019, 51(8): 2549-2554.
16.	王蓉, 陈淑敏, 邵长峰, 等. 山东半岛地区慢性肾衰竭患者 HLA-A、B、DRB1 等位基因多态性研究. 中国输血杂志, 2022, 35(8): 832-836.
17.	Noureen N, Shah FA, Lisec J, et al. Revisiting the association between human leukocyte antigen and end-stage renal disease. PLoS One, 2020, 15(9): e0238878.
18.	Takemoto S, Port FK, Claas FH, et al. HLA matching for kidney transplantation. Hum Immunol, 2004, 65(12): 1489-1505.
19.	Miles CD, Schaubel DE, Liu D, et al. The role of donor-recipient relationship in long-term outcomes of living donor renal transplantation. Transplantation, 2008, 85(10): 1483-1488.
20.	李海滨, 孙煦勇, 裴永峰, 等. HLA 高分辨等位基因多态性及单倍体与广西汉族终末期肾病易感性的相关性分析. 广西科学, 2022, 29(3): 436-448.
21.	裴永峰, 余梅, 黄惠妮, 等. 广西壮族人群 HLA-A、-B、-C、-DRB1、-DQB1 高分辨等位基因多态性和单倍型的研究. 中国实验血液学杂志, 2020, 28(4): 1397-1405.
22.	Jiang Y, Li W, Lu J, et al. HLA-G +3142 C>G polymorphism and cancer risk: evidence from a meta-analysis and trial sequential analysis. Medicine (Baltimore), 2019, 98(25): e16067.
23.	Ademović-Sazdanić D, Vojvodić S. Human leukocyte antigen polymorphisms as susceptibility risk factors for end stage renal disease. Genetika, 2019, 51(2): 607-617.

1. 《中国围透析期慢性肾脏病管理规范》专家组. 中国围透析期慢性肾脏病管理规范. 中华肾脏病杂志, 2021, 37(8): 690-704.
2. Ene-Iordache B, Perico N, Bikbov B, et al. Chronic kidney disease and cardiovascular risk in six regions of the world (ISN-KDDC): a cross-sectional study. Lancet Glob Health, 2016, 4(5): e307-e319.
3. Lv JC, Zhang LX. Prevalence and disease burden of chronic kidney disease. Adv Exp Med Biol, 2019, 1165: 3-15.
4. Le Pham NM, Ong TP, Vuong NL, et al. HLA types and their association with end-stage renal disease in Vietnamese patients: a cross-sectional study. Medicine (Baltimore), 2022, 101(48): e31856.
5. Sharma S, Sarnak MJ. Epidemiology: the global burden of reduced GFR: ESRD, CVD and mortality. Nat Rev Nephrol, 2017, 13(8): 447-448.
6. McCullough KP, Morgenstern H, Saran R, et al. Projecting ESRD incidence and prevalence in the United States through 2030. J Am Soc Nephrol, 2019, 30(1): 127-135.
7. Satyan S, Rocher LL. Impact of kidney transplantation on the progression of cardiovascular disease. Adv Chronic Kidney Dis, 2004, 11(3): 274-293.
8. Fejzić E, Karamehić J, Eminović I, et al. HLA genotyping in patients with end-stage renal disease waiting for cadaveric renal transplantation in Federation of Bosnia and Herzegovina. Open Access Maced J Med Sci, 2017, 5(1): 1-5.
9. Pan Q, Ma X, Chen H, et al. A single center study of protective and susceptible HLA alleles and haplotypes with end-stage renal disease in China. Hum Immunol, 2019, 80(11): 943-947.
10. Uçar F, Sönmez M, Ermantaş N, et al. The associations of HLA-A, -B, DRB1 alleles and haplotypes in Turkish lymphoma patients. Gene, 2016, 586(2): 263-267.
11. Edgerly CH, Weimer ET. The past, present, and future of HLA typing in transplantation. Methods Mol Biol, 2018, 1802: 1-10.
12. Noureen N, Zaidi N. Association between human leukocyte antigen (HLA) and end-stage renal disease (ESRD): a meta-analysis. PeerJ, 2023, 11: e14792.
13. 潘芹芹, 马骁, 樊甦, 等. 江苏七地市汉族人群常见 HLA 单倍型多态性分析. 南京医科大学学报(自然科学版), 2022, 42(10): 1387-1393.
14. Robson KJ, Ooi JD, Holdsworth SR, et al. HLA and kidney disease: from associations to mechanisms. Nat Rev Nephrol, 2018, 14(10): 636-655.
15. Hieu HT, Ha NT, Song LH, et al. Association of human leukocyte antigen haplotypes with end-stage renal disease in Vietnamese patients prior to first transplantation. Transplant Proc, 2019, 51(8): 2549-2554.
16. 王蓉, 陈淑敏, 邵长峰, 等. 山东半岛地区慢性肾衰竭患者 HLA-A、B、DRB1 等位基因多态性研究. 中国输血杂志, 2022, 35(8): 832-836.
17. Noureen N, Shah FA, Lisec J, et al. Revisiting the association between human leukocyte antigen and end-stage renal disease. PLoS One, 2020, 15(9): e0238878.
18. Takemoto S, Port FK, Claas FH, et al. HLA matching for kidney transplantation. Hum Immunol, 2004, 65(12): 1489-1505.
19. Miles CD, Schaubel DE, Liu D, et al. The role of donor-recipient relationship in long-term outcomes of living donor renal transplantation. Transplantation, 2008, 85(10): 1483-1488.
20. 李海滨, 孙煦勇, 裴永峰, 等. HLA 高分辨等位基因多态性及单倍体与广西汉族终末期肾病易感性的相关性分析. 广西科学, 2022, 29(3): 436-448.
21. 裴永峰, 余梅, 黄惠妮, 等. 广西壮族人群 HLA-A、-B、-C、-DRB1、-DQB1 高分辨等位基因多态性和单倍型的研究. 中国实验血液学杂志, 2020, 28(4): 1397-1405.
22. Jiang Y, Li W, Lu J, et al. HLA-G +3142 C>G polymorphism and cancer risk: evidence from a meta-analysis and trial sequential analysis. Medicine (Baltimore), 2019, 98(25): e16067.
23. Ademović-Sazdanić D, Vojvodić S. Human leukocyte antigen polymorphisms as susceptibility risk factors for end stage renal disease. Genetika, 2019, 51(2): 607-617.

West China Medical Journal

Correlation of human leukocyte antigen gene polymorphism and susceptibility to end-stage renal disease in Sichuan Han nationality population

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