The relationship between IRGM polymorphism and pneumoconiosis susceptibility_Chinese Journal of Respiratory and Critical Care Medicine

Authors：

WANG Yun ¹ , YUAN Leyong ² , WANG Meifang ¹ , MENG Zhongji ³ , DUAN Jingzhu ¹ ,  DU Shiming ⁴ ,  TANG Yijun ¹

1. Department of Pulmonary and Critical Care Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei 442000, P. R. China;
2. Department of Immunology, School of Basic Medical Sciences, Hubei University of Medicine, Shiyan, Hubei 442000, P. R. China;
3. Institute of Biomedical Research, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei 442000, P. R. China;
4. Department of Scientific Research, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei 442000, P. R. China;

Corresponding author：

DU Shiming, Email: dsmch@sina.com; TANG Yijun, Email: tangyijun_799@163.com

Keywords：

Pneumoconiosis; Susceptibility; Immunity related GTPase M; Polymorphism

DOI：

10.7507/1671-6205.201907029

Video：

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Objective To investigate the relationship between immunity related GTPase M gene (IRGM) polymorphism and pneumoconiosis susceptibility.Methods Two hundred and forty-eight pneumoconiosis patients were selected as a case group, 275 non-pneumoconiosis workers with similar age, sex, nationality, type of work and working age were selected as a control group. The genotypes and alleles of three single nucleotide polymorphisms (SNP) of IRGM were detected by Sanger sequencing in case group and control group. SNPstats software was used to analyze the correlation between single SNP and pneumoconiosis, and SHEsis software was used to analyze the linkage imbalance and haplotype of each locus.Results The distribution frequency of IRGM rs4958846 TT genotype in the case group was higher than that of the control group. The distribution frequency of TC and CC genotype in control group was higher than that of the case group. The distribution frequency of T allele in the case group was higher than that of the control group. The distribution frequency of C allele in the control group was higher than that of the case group. All of the differences were statistical significant (P<0.05). There was no statistical significance for the distribution difference between the two groups in terms of genotype and allele at IRGM rs4958842 and rs4958843 (P>0.05). After linkage disequilibrium analysis to three gene loci at rs4958842, rs4958843 and rs4958846 of IRGM, there was linkage disequilibrium between each other gene loci (D'>0.7, r²>0.3). Haplotype analysis was conducted on three genetic loci and established four kinds of haplotypes, the frequency distribution of ACT and ACC haplotypes had statistical significances between the two groups (P<0.05), and the other haplotype had no significant correlation with the susceptibility of pneumoconiosis (P>0.05).Conclusion T allele and ACT haplotype of IRGM rs4958846 may be associated with pneumoconiosis susceptibility.

Citation： WANG Yun, YUAN Leyong, WANG Meifang, MENG Zhongji, DUAN Jingzhu, DU Shiming, TANG Yijun. The relationship between IRGM polymorphism and pneumoconiosis susceptibility. Chinese Journal of Respiratory and Critical Care Medicine, 2020, 19(4): 366-370. doi: 10.7507/1671-6205.201907029 Copy

1.	王慧, 胡建安. 表观遗传修饰在尘肺病发病中的作用研究. 中华劳动卫生职业病杂志, 2019, 37(4): 310-317.
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14.	Rufini S, Ciccacci C, Di Fusco D, et al. Autophagy and inflammatory bowel disease: association between variants of the autophagy-related IRGM gene and susceptibility to Crohn's disease. Dig Liver Dis, 2015, 47(9): 744-750.
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1. 王慧, 胡建安. 表观遗传修饰在尘肺病发病中的作用研究. 中华劳动卫生职业病杂志, 2019, 37(4): 310-317.
2. 张春民. TRAIL/TRAILR 介导煤工尘肺患者肺泡巨噬细胞凋亡的机制[D]. 河北联合大学, 2011.
3. Wang Y, Liu N, Su X, et al. Epigallocatechin-3-gallate attenuates transforming growth factor-β1 induced epithelial-mesenchymal transition via Nrf2 regulation in renal tubular epithelial cells. Biomed Pharmacother, 2015, 70: 260-267.
4. 吴芬, 夏昭林. 基因多态性与尘肺病遗传易感性关系研究进展. 中国工业医学杂志, 2008, 21(5): 309-311.
5. Chu M, Ji X, Chen W, et al. A genome-wide association study identifies susceptibility loci of silica-related pneumoconiosis in Han Chinese. Hum Mol Genet, 2014, 23(23): 6385-6394.
6. Sandoval H, Kodali S, Wang J. Regulation of B cell fate, survival, and function by mitochondria and autophagy. Mitochondrion, 2017, 7249(17): 30191-30195.
7. 王海杰, 谭玉珍, 何韬, 等. 尘粒对巨噬细胞自噬的影响. 中国病理生理杂志, 2008, 24(8): 1524-1528.
8. Yuan J, Han R, Esther A, et al. Polymorphisms in autophagy related genes and the coal workers' pneumoconiosis in a Chinese population. Gene, 2017, 632: 36-42.
9. Chen S, Yuan J, Yao S, et al. Lipopolysaccharides may aggravate apoptosis through accumulation of autophagosomes in alveolar macrophages of human silicosis. Autophagy, 2015, 11(12): 2346-2357.
10. Di Pietrantonio T, Schurr E. Host-pathogen specificity in tuberculosis. Adv Exp Med Biol, 2013, 783: 33-44.
11. Songane M, Kleinnijenhuis J, Netea MG, et al. The role of autophagy in host defence against Mycobacterium tuberculosis infection. Tuberculosis (Edinb), 2012, 92(5): 388-396.
12. Bahari G, Hashemi M, Taheri M, et al. Association of IRGM polymorphisms and susceptibility to pulmonary tuberculosis in Zahedan, Southeast Iran. ScientificWorldJournal, 2012, 2012: 950801.
13. Chauhan S, Mandell MA, Deretic V. Mechanism of action of the tuberculosis and Crohn disease risk factor IRGM in autophagy. Autophagy, 2016, 12(2): 429-431.
14. Rufini S, Ciccacci C, Di Fusco D, et al. Autophagy and inflammatory bowel disease: association between variants of the autophagy-related IRGM gene and susceptibility to Crohn's disease. Dig Liver Dis, 2015, 47(9): 744-750.
15. Che N, Li S, Gao T, et al. Identification of a novel IRGM promoter single nucleotide polymorphism associated with tuberculosis. Clin Chim Acta, 2010, 411(21-22): 1645-1649.

Chinese Journal of Respiratory and Critical Care Medicine

The relationship between IRGM polymorphism and pneumoconiosis susceptibility

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