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MBL2 polymorphism may be a protective factor of autoimmune thyroid disease susceptibility

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Abstract

Genetic susceptibility is an essential pathogenetic mechanism in autoimmune thyroid disease (AITD). MBL2 gene polymorphisms have been shown to play a vital role in the pathogenesis of multiple autoimmune disorders, but its contribution to AITD is unclear. The aim of this study was to assess the linkage between MBL2 gene polymorphisms and AITD susceptibility in a Chinese Han population. One thousand seven hundred sixty seven subjects consisting of 965 AITD patients and 802 controls from a Chinese Han population were enrolled in the case–control study. Four common single-nucleotide polymorphisms (SNPs) in the MBL2 gene were tested using high-throughput sequencing technology for sequence-based SNP genotyping. The allele and genotype distribution results showed that the minor alleles of rs198266, rs10824793, and rs4935046 were significantly lower in Hashimoto’s thyroiditis (HT) patients than in healthy controls. In further genetic model analysis, the dominant models of rs1982266, rs10824793, and rs4935046 for MBL2 in the AITD group exhibited a lower risk of morbidity. Finally, we discovered that haplotype AAGC was associated with Graves’ disease (GD), while AGC was associated with HT. Our study provides strong evidence for a genetic correlation between MBL2 and AITD, and the polymorphism of the MBL2 gene may be a protective factor for AITD, especially for HT. These findings can advance our understanding of the etiology of AITD, as well as provide guidance for prevention and intervention toward AITD.

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Acknowledgements

The authors thank all the patients and volunteers who participated in this study.

Funding

The present work was supported by grants from the National Natural Science Foundation of China (No.81873636), Health Scientific Research Project of Pudong New District Health Commission (No. PW2019D-12), Clinical Research Center of thyroid diseases of Shanghai Health Medical College (20MC20200002) and The Project of Shanghai Medical Key Specialty(No. ZK2019C09).

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Authors and Affiliations

  1. Graduate School, Shanghai University of Traditional Chinese Medicine, Shanghai, 201203, China

    Jianbin Xu, Jing Zhao, Tiantian Cai, Peng Du, Chaoqun Gao & Yudie Fang

  2. Department of Endocrinology and Rheumatology, Shanghai University of Medicine and Health Sciences Affiliated Zhoupu Hospital, No. 1500 Zhouyuan Road, Pudong District, Shanghai, 201318, China

    Jianbin Xu, Jing Zhao, Tiantian Cai, Peng Du, Chaoqun Gao, Yudie Fang, Yanfei Jiang & Jin-an Zhang

  3. Department of Endocrinology, Jiading District Central Hospital Affiliated Shanghai University of Medicine and Health Sciences, Shanghai, 201899, China

    Lixia Suo

  4. Department of Rehabilitation, Tongde Hospital of Zhejiang Province, Hangzhou, 310012, Zhejiang, China

    Na Mei

  5. Shanghai University of Traditional Chinese Medicine, Shanghai, 201203, China

    Jin-an Zhang

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  1. Jianbin Xu
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  2. Lixia Suo
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Communicated by Shuhua Xu.

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Xu, J., Suo, L., Zhao, J. et al. MBL2 polymorphism may be a protective factor of autoimmune thyroid disease susceptibility. Mol Genet Genomics 298, 95–105 (2023). https://doi.org/10.1007/s00438-022-01960-9

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