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Asian Journal of Urology, 2022, 9(1): 51-56    doi: 10.1016/j.ajur.2021.04.009
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Associations between IL-1RN variable number of tandem repeat, IL-1β (-511) and IL-1β (+3954) gene polymorphisms and urolithiasis in Uighur children of China
Jiefeng Xiao,Shukai Zheng,Zhaolong Qiu,Kusheng Wu()
Department of Preventive Medicine, Shantou University Medical College, Shantou, Guangdong, China
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Abstract: 

Objective: Interleukin-1 (IL-1) is a pro-inflammatory cytokine which may be related to urolithiasis. Genetic polymorphisms of the interleukin-1beta (IL-1β) have been proposed as markers for urolithiasis in some areas. Due to the high incidence of urolithiasis in Uighur children (Xinjiang, China) and existence of ethnic difference, our aim is to explore the potential of IL-1 gene polymorphisms and urolithiasis among these children.
Methods: Genomic DNA extracted from peripheral blood of 115 patients and 98 controls were used for genotype polymorphisms analyses. IL-1 receptor antagonist (IL-1RN) gene variable number of tandem repeat (VNTR) gene polymorphisms were analyzed by PCR method. PCR-based restriction analysis was done for the IL-1β (-511) and IL-1β (+3954) gene polymorphisms by endonucleases Ava I and Taq I, respectively. The genotype distribution, allele frequencies, carriage rate, and haplotype frequencies were statistically analyzed.
Results: No significant differences were observed in genotypic frequencies between pediatric urolithiasis patients and control group for IL-1RN gene (χ2=1.906, p=0.605), IL-1β (-511) gene (χ2=0.105, p=0.949), or IL-1β (+3954) gene (χ2=3.635, p=0.169). There were yet no significant differences of the allele frequencies of IL-1RN VNTR gene (p=0.779), IL-1β (-511) gene (p=0.941), and IL-1β (+3954) gene (p=0.418) in the case and control groups, as well as the carriage rate and haplotype of them (all p>0.05).
Conclusions: The associations between IL-1RN VNTR, IL-1β (-511) and IL-1β (+3954) genes polymorphisms and urolithiasis were not significant in Uighur children. The results need to be confirmed in studies with larger population sample size, as well as in other ethnic groups.

Key words:  Urolithiasis    Single nucleotide polymorphisms    IL-1RN variable number of tandem repeat gene    IL-1β (-511) gene    IL-1β (+3954) gene    Uighur children
收稿日期:  2020-05-31      修回日期:  2020-11-01      接受日期:  2020-11-18      出版日期:  2022-01-20      发布日期:  2022-02-18      整期出版日期:  2022-01-20
引用本文:    
. [J]. Asian Journal of Urology, 2022, 9(1): 51-56.
Jiefeng Xiao,Shukai Zheng,Zhaolong Qiu,Kusheng Wu. Associations between IL-1RN variable number of tandem repeat, IL-1β (-511) and IL-1β (+3954) gene polymorphisms and urolithiasis in Uighur children of China. Asian Journal of Urology, 2022, 9(1): 51-56.
链接本文:  
http://www.ajurology.com/CN/10.1016/j.ajur.2021.04.009  或          http://www.ajurology.com/CN/Y2022/V9/I1/51
  
Gene Genotype Patient, n (%) Control, n (%) p-Value OR (95% CI)
IL-1RN VNTR I/I 71 (61.7) 59 (60.2) 0.605 1.00
I/II 36 (31.3) 27 (27.6) 0.90 (0.49-1.66)
II/II 5 (4.4) 7 (7.1) 1.69 (0.51-5.59)
Others 3 (2.6) 5 (5.1) 2.01 (0.46-8.74)
IL-1β (-511) C/C 31 (27.0) 25 (25.5) 0.949 1.00
T/C 55 (47.8) 49 (50.0) 1.11 (0.58-2.12)
T/T 29 (25.2) 24 (24.5) 0.97 (0.46-2.07)
IL-1β (+3954) E1/E1 71 (61.7) 69 (70.4) 0.169 1.00
E1/E2 41 (35.7) 24 (24.5) 0.60 (0.33-1.10)
E2/E2 3 (2.6) 5 (5.1) 0.58 (0.13-2.53)
  
Gene Allele Patient, n (%) Control, n (%) p-Value OR (95% CI)
IL-1RN VNTR I 180 (78.3) 149 (76.4) 0.799 1.00
II 47 (20.4) 41 (21.0) 1.05 (0.66-1.69)
III 2 (0.9) 4 (2.1) 2.42 (0.44-13.38)
IV 1 (0.4) 1 (0.5) 1.21 (0.08-19.48)
IL-1β (-511) C 117 (50.9) 99 (50.5) 0.941 1.00
T 113 (49.1) 97 (49.5) 0.99 (0.67-1.44)
IL-1β (+3954) E1 183 (79.6) 162 (82.7) 0.418 1.00
E2 47 (20.4) 34 (17.3) 1.22 (0.75-2.00)
  
Gene Carriage Patient, n (%) Control, n (%) p-Value OR (95% CI)
IL-1RN VNTR I 109 (70.8) 91 (70.0) 0.810 -
II 42 (27.3) 34 (26.2)
III 2 (1.3) 4 (3.1)
IV 1 (0.6) 1 (0.7)
IL-1β (-511) C 86 (50.3) 74 (50.3) 0.965 1.00
1.01 (0.65-1.57)
T 85 (49.7) 73 (49.7)
IL-1β (+3954) E1 112 (71.8) 93 (76.2) 0.404 1.00
0.79 (0.46-1.37)
E2 44 (28.2) 29 (23.8)
  
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