Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Aug 28;10(17):e37091.
doi: 10.1016/j.heliyon.2024.e37091. eCollection 2024 Sep 15.

Association between TIMP1 polymorphism and female neuromyelitis optica spectrum disorder in Chinese population

Hongjing Yan  1   2   3   4 , Yining Wang  4 , Ruoyi Guo  1   2   3 , Zhen Jia  1   2   3 , Jia Liu  5   6 , Bin Li  1   2   3
Affiliations

Association between TIMP1 polymorphism and female neuromyelitis optica spectrum disorder in Chinese population

Hongjing Yan et al. Heliyon. .

Abstract

Aims: Earlier studies have indicated an association between the TIMP1 polymorphism and the risk of certain autoimmune diseases, as well as a link between higher TIMP1 levels and blood-brain barrier (BBB) disruption in neuromyelitis optica spectrum disorders (NMOSD). This study aimed to explore the correlation between TIMP1 polymorphism and NMOSD phenotypes.

Methods: Genotyping of three loci (rs4898, rs2070584, rs6609533) in the TIMP1 gene was performed in 126 NMOSD patients and 213 healthy controls (HCs) from North China using the SNaPshot sequencing technique, and a correlation analysis was done between phenotypes and TIMP1 genotype.

Results: The frequency of the rs4898-T, rs2070584-T, and rs6609533-G alleles was significantly higher in NMOSD patients than those in HCs (p < 0.05). Accordingly, the rs4898-TT, rs2070584-TT, and rs6609533-GG genotypes were found at a higher frequency in patients than in controls (p < 0.05). Haplotype analysis showed TIMP1 T-T-G (rs4898-rs2070584-rs6609533) frequency was higher in female NMOSD patients (p = 0.019), and the frequency of T-T-G haplotypes in the BBB disrupted group was higher compared with that in the BBB normal group (p = 0.04).

Conclusions: TIMP1 rs4898-T, rs2070584-T, and rs6609533 polymorphism may contribute to the susceptibility of Female NMOSD patients in the Chinese Population. TIMP1 T-T-G (rs4898-rs2070584-rs6609533) haplotype is more common among female NMOSD patients and is linked to heightened disruption of the BBB.

Keywords: BBB; MMP9; NMOSD; Polymorphism; TIMP1.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Linkage disequilibrium (LD) plot of TIMP1 SNPs. Each block represents the linkage disequilibrium relationship between two SNPs. Rrs4898, rs2070584, and rs6609533 were in complete linkage disequilibrium (D’>0.98).
See this image and copyright information in PMC

References

    1. Matiello M., Kim H.J., Kim W., et al. Familial neuromyelitis optica. Neurology. 2010;75(4):310–315. - PMC - PubMed
    1. Saiz A., Zuliani L., Blanco Y., Tavolato B., Giometto B., Graus F. Revised diagnostic criteria for neuromyelitis optica (NMO). Application in a series of suspected patients. J. Neurol. 2007;254(9):1233–1237. - PubMed
    1. Wingerchuk D.M., Banwell B., Bennett J.L., et al. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology. 2015;85(2):177–189. - PMC - PubMed
    1. Carnero Contentti E., Correale J. Neuromyelitis optica spectrum disorders: from pathophysiology to therapeutic strategies. J. Neuroinflammation. 2021;18:208. - PMC - PubMed
    1. Papadopoulos M.C., Verkman A.S. Aquaporin 4 and neuromyelitis optica. Lancet Neurol. 2012;11:535–544. - PMC - PubMed

LinkOut - more resources