Psoriasis Susceptibility 1 Candidate 1 (PSORS1C1) Polymorphism is Associated with Autoimmune Thyroid Disease in a Chinese Han Population

ABSTRACT

Background

Autoimmune thyroid disease (AITD) is an inherited, complex gene- and immune-related disorder that mainly includes Graves’ disease (GD) and Hashimoto’s thyroiditis (HT). Psoriasis susceptibility 1 candidate 1 (PSORS1C1) is a susceptibility gene associated with many autoimmune diseases, but its role in an individual’s predisposition to AITD is unknown.

Methods

This study included 1065 Chinese Han patients with AITD and 943 matched healthy individuals. The rs3130983, rs3778638, rs3815087, and rs4959053 single nucleotide polymorphisms (SNPs) in PSORS1C1 were determined using multiplex polymerase chain reaction technology.

Results

Of the four SNPs, only the distribution of the rs3778638 genotypes was different between the AITD (AA, 2.67%; AG, 19.15%; and GG, 78.18%) and control (AA, 1.52%; AG, 22.2%; and GG, 75.87%) groups (P = .046). An association between rs3778683 and GD was observed (p = .039) but not with HT. No linkage disequilibrium was observed for rs3130983, rs3815087, rs3778638, and rs4959053 in PSORS1C1 among the patients with AITD and controls.

Conclusion

This study suggests the influence of PSORS1C1 rs3778638 on the susceptibility to GDs, supporting this locus as a common autoimmunity risk factor.

KEYWORDS:

• Autoimmune thyroid disease
• Graves’ disease
• Hashimoto’s thyroiditis
• PSORS1C1
• single nucleotide polymorphism

Acknowledgments

The manuscript has been published as a preprint in Research Square. This article has been published as a preprint in BMC Medical Genetics, but was later withdrawn. At present, the article has not been published in other journals.

Author’s contributions

Ronghua Song and Jin-an Zhang designed and conducted the study and collected important background information. Yanfei Jiang and Xudong Mao drafted the manuscript and conducted the statistical analyses. Kaida Mu and Yanping Yang conducted the literature search, collected data, and proofread the manuscript. All authors read and approved the final manuscript.

Declaration of interest statement

The authors declare no financial or commercial conflict of interest.

Ethics declarations

Written informed consent was obtained from all adult participants and the guardians of participants under 18 years old. The present study was approved by the Ethics Committee of Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital (Shanghai, China).

Unavailable data

Because the collected data are clinical data, in addition to the objective base expression, it also involves the patient’s privacy, so the collected data cannot be uploaded to the database; however, if there is a need for the research, the corresponding author can be contacted to obtain the original data, which can be used for scientific research and further data analyses without violating any personal privacy protocols.

Supplementary material

Supplemental data for this article can be accessed on the publisher’s website.

Additional information

Funding

This work was supported by the National Natural Science Foundation of China (Nos. 81800696 and 81873636); Shanghai Natural Science Foundation (No. 18ZR1433800), Health Scientific Research Project of Pudong New District Health Commission (No. PW2019D-12), and Shanghai Medical Key Specialty (No. ZK2019C09).