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Association of ficolin single nucleotide polymorphism with systemic lupus erythematosus in the Chinese Han Population

  • Feng Yin , Jinhua Gu , Ping Zhao and Jie Chen EMAIL logo
Published/Copyright: October 4, 2025
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Rheumatology and Immunology Research
From the journal Rheumatology and Immunology Research Volume 6 Issue 3

Dear Editor,

Systemic lupus erythematosus (SLE) is a heterogeneous incurable autoimmune disease and can involve one or more organs.[1] The pathogenesis of SLE is still poorly understood. Studies have shown that SLE has a strong but incompletely understood genetic architecture.[2] Genetic interactions with environmental factors might initiate the disease, resulting in immune dysregulation.[3] Ficolins, encoded by FCN, belong to an important family of pattern recognition molecules and have crucial functions in the innate immune system.[4] Three human ficolins have been identified, termed ficolin-1, ficolin-2, and ficolin-3. To date, FCN has been analyzed in a number of diseases. Addobbati Catarina revealed that the T/T genotype for FCN rs3124954 single nucleotide polymorphism (SNP) was related to the occurrence of nephritis.[5] The GG genotype and G allele for FCN rs3124952 were significantly more represented in patients with Pediatric-onset SLE.[6] Therefore, we hypothesized that FCN gene may be an important susceptibility gene for SLE.

A total of 146 SLE patients were recruited as the case group and 140 healthy individuals composed the control group. All subjects were the Chinese Han and were recruited from the First Affiliated Hospital of Southwest Medical University during the period from 2022.06 to 2022.12. SLE patients were fulfilled the 2019 American College of Rheumatology Criteria. Informed consent was obtained from all individuals before the study, which was approved by the Medical Ethics Committee. Selecting the three FCN gene SNPs was according to some previous studies about the relationship with SLE or other rheumatic disease, and/or their possible functional impact. We observed that there were no significant differences in allele frequency and genotype distribution of FCN s7851696, rs2989727 and rs1071583 between SLE cases and healthy individuals. The results of association analysis between mentioned SNPs and SLE were shown in Table 1. The distributions of alleles and genotypes of SNPs in SLE patients were shown in Table 2.

Table 1

Statisfied analysis of FCN gene SNPs and SLE susceptibility.

SNPs Genotypes Case (n,%) Controls (n,%) OR (95%CI) P value
Rs2989727 CC 40(27%) 43(31%) reference 0.344
CT 79(54%) 77(55%) 0.365 (0.075,1.791) 0.214
TT 27(19%) 20(14%) 0.389 (0.108,1.41) 0.151
Rs7851696 GG 90(62%) 83(59%) reference 0.579
TG 53(36%) 50(36%) 2.344 (0.472,11.65) 0.298
TT 3(2%) 7(5%) 2.184 (0.433,11.015) 0.344
Rs1071583 CC 34(23%) 31(22%) reference 0.422
CT 80(55%) 74(54%) 0.41 (0.086,1.95) 0.236
TT 32(22%) 35(24%) 0.878 (0,271,2.785) 0.826
Table 2

The distributions of alleles and genotypes of SNPs in SLE patients.

Clinical features Rs2989727 Rs7851696 Rs1071583
Genotype (n)
 P Allele (n)
 P Genotype (n)
 P Allele (n)
 P Genotype (n)
 P Allele (n)
 P
CT TT CC value C T value TG TT GG value G T value CT TT CC value C T value
Anti-Sm
positive 38 18 21 0.249 80 74 0.364 27 2 48 0.945 123 31 0.973 40 17 20 0.688 80 74 0.648
negative 41 9 19 79 59 26 1 42 110 28 40 15 14 68 70
Anti-dsDNA
positive 36 11 19 0.858 74 58 0.616 21 2 43 0.474 107 25 0.625 38 14 14 0.81 66 66 0.832
negative 43 16 21 85 75 32 1 47 126 34 42 18 20 82 78
Anti-rRNP
positive 47 16 20 0.59 87 79 0.421 27 3 53 0.248 133 33 0.873 48 15 20 0.433 88 78 0.361
negative 32 11 20 72 54 26 0 37 100 26 32 17 14 60 66
Arthritis
positive 41 18 22 0.41 85 77 0.448 26 2 53 0.505 132 30 0.423 42 17 22 0.465 86 76 0.36
negative 38 9 18 74 56 27 1 37 101 29 38 15 12 62 68
Rash
positive 54 15 28 0.408 110 84 0.278 35 2 60 1.00 155 39 0.951 59 20 18 0.086 95 99 0.409
negative 25 12 12 49 49 18 1 30 78 20 21 12 16 53 45
Alpecia
positive 23 8 12 0.998 47 39 0.97 11 1 32 0.133 75 13 0.129 24 9 11 0.932 46 42 0.722
negative 55 19 28 111 93 42 2 58 158 46 56 23 23 102 102
Ulcer
positive 19 6 9 0.972 37 31 0.994 11 2 21 0.204 53 15 0.664 20 6 8 0.778 36 32 0.671
negative 60 21 31 122 102 42 1 69 180 44 60 26 26 112 112
Hematuria
positive 37 15 21 0.687 79 67 0.906 24 2 47 0.615 118 28 0.662 39 15 19 0.724 77 69 0.482
negative 42 12 19 80 66 29 1 43 115 31 41 17 15 71 75
Proteinuria
positive 46 13 23 0.647 92 72 0.523 23 2 57 0.04 137 27 0.071 48 17 17 0.57 82 82 0.791
negative 33 14 17 67 61 30 1 33 96 32 32 15 17 66 62
Hypocomplemetemia
positive 70 21 31 0.187 132 112 0.784 45 2 75 0.563 195 49 0.906 71 25 26 0.174 123 121 0.832
negative 9 6 9 27 21 8 1 15 38 10 9 7 8 25 23
Thrombocytopenia
positive 26 10 12 0.835 50 46 0.529 22 0 26 0.148 74 22 0.419 28 9 11 0.781 27 25 0.844
negative 53 17 28 109 87 31 3 64 159 37 52 23 23 121 119

SLE is one of the most common autoimmune diseases in the world.[7] Various genetic factors are associated with susceptibility to developing SLE. Different SNPs have been associated with SLE in several populations. Rheumatoid arthritis (RA) and SLE belong to rheumatic diseases. Vander Cruyssen shown the increased frequency of A allele of rs2989727 and G allele of rs1071583 in RA patients.[8] We speculated that rs2989727 and rs1071583 SNP may be associated with susceptibility to SLE. However, the results were not as we had expected. This study suggested that SNP rs7851696, rs2989727 and rs1071583 of FCN gene might be not associated with genetic susceptibility to SLE. The inconsistence may relate to heterogeneity among different diseases, ethnicity, experimental and analytical methods, and sample size. Nevertheless, the relationship of ficolin concentration with SLE cannot be ruled out since its levels were not evaluated here.

In further analysis, we found that FCN gene SNPs were related to laboratory characteristics, the differences of the distribution of genotype of FCN rs7851696 SNP between proteinuria positive groups and proteinuria negative groups. Due to proteinuria being a common clinical manifestation of SLE and influenced by multiple factors, the proteinuria levels of the same patient may fluctuate over time. Therefore, the genetic differences observed between proteinuria positive and negative groups have limited significance. Therefore, more research is needed to confirm this performance. Moreover, one must address the limitations of our study. First, the sample number may be quantitively unsatisfactory to reveal final conclusions regarding genetic phenomena in SLE.[9] Furthermore, this study was a single-center research.

Taking into account the shortcomings of this study, conclusions should be made with caution. We have not able to demonstrate that SLE susceptibility was related to the distribution of genotypes and alleles of FCN gene SNPs. However, the rs7851696 genotype may be associated with clinical features of SLE. The further studies are needed to reveal molecular genetics research of SLE.

Address for correspondence: Jie Chen, Department of Rheumatologyand Immunology, The Affiliated Hospital of Southwest Medical University. No. 25, Taiping Street, Jiangyang District, Luzhou 646000, Sichuan Province, China.

Funding statement: This work was supported by the Project of Youth Innovation in Medical Research in Sichuan Province (Q15027) the Project of Sichuan Education Department (18ZB0640) , the Project of Health Department in Sichuan Province (150078) , Doctoral Foundation of Affiliated Hospital of Southwest Medical University (No. 18048), the Project of Technology Department in Sichuan Province (20YYJC20150), the Project of Southwest Medical University (07092)

Acknowledgements

None.

  1. Author contributions

    Feng Yin: Conceptualization, Writing, Feng Yin, Jinhua Gu: Original draft preparation, Writing, Ping Zhao, Jie Chen: Reviewing and Editing. Jie Chen: Conceptualization, Supervision., Jie Chen: Supervision, Project administration.

  2. Ethical approval

    The project was conducted according to the ethical requirements of biomedical research and was approved by the Ethics Committee of the Affiliated Hospital of Southwest Medical University (approbation number: KY2022152).

  3. Informed consent

    All participants provided signed informed consent before data collection.

  4. Conflict of interest

    The authors have declared no conflicts of interest.

  5. Use of large language models, AI and machine learning tools

    None declared.

  6. Data availability statement

    Not applicable.

References

[1] Perez RK, Gordon MG, Subramaniam M, et al. Single-cell RNA-seq reveals cell type-specific molecular and genetic associations to lupus. Science. 2022;376:eabf1970.10.1126/science.abf1970Search in Google Scholar PubMed PubMed Central

[2] Zhao J, Ma J, Deng Y, et al. A missense variant in NCF1 is associated with susceptibility to multiple autoimmune diseases. Nat Genet. 2017;49:433–437.10.1038/ng.3782Search in Google Scholar PubMed PubMed Central

[3] Kaul A, Gordon C, Crow MK, et al. Systemic lupus erythematosus. Nat Rev Dis Primers. 2016;2:16039.10.1038/nrdp.2016.39Search in Google Scholar PubMed

[4] Giang NT, Tong HV, Nghia TH, et al. Association of FCN2 polymorphisms and Ficolin-2 levels with dengue fever in Vietnamese patients. Int J Infect Dis. 2020;95:253–261.10.1016/j.ijid.2020.02.029Search in Google Scholar PubMed

[5] Addobbati C, de Azevêdo Silva J, Tavares NA, et al. Ficolin Gene Polymorphisms in Systemic Lupus Erythematosus and Rheumatoid Arthritis. Ann Hum Genet. 2016;80:1–6.10.1111/ahg.12129Search in Google Scholar PubMed

[6] Elkoumi MA, Emam AA, Allah MAN, et al. Association of ficolin-2 gene polymorphisms and susceptibility to systemic lupus erythematosus in Egyptian children and adolescents: a multicenter study. Lupus. 2019;28:995–1002.10.1177/0961203319856089Search in Google Scholar PubMed

[7] Nishide M, Kumanogoh A. The role of semaphorins in immune responses and autoimmune rheumatic diseases. Nat Rev Rheumatol. 2018;14:19–31.10.1038/nrrheum.2017.201Search in Google Scholar PubMed

[8] Vander Cruyssen B, Nuytinck L, Boullart L, et al. Polymorphisms in the ficolin 1 gene (FCN1) are associated with susceptibility to the development of rheumatoid arthritis. Rheumatology (Oxford). 2007;46:1792–1795.10.1093/rheumatology/kem266Search in Google Scholar PubMed

[9] B-Rao C. Sample size considerations in genetic polymorphism studies. Hum Hered. 2001;52:191–200.10.1159/000053376Search in Google Scholar PubMed

Received: 2024-11-17
Accepted: 2025-07-21
Published Online: 2025-10-04

© 2025 Feng Yin, Jinhua Gu, Ping Zhao, Jie Chen, published by De Gruyter on behalf of NCRC-DID

This work is licensed under the Creative Commons Attribution 4.0 International License.

Articles in the same Issue

  1. Editorial
  2. How will we treat systemic lupus erythematosus in the next 5 years?
  3. Guideline
  4. 2025 Chinese guidelines for the diagnosis and treatment of systemic lupus erythematosus
  5. Review
  6. Proceedings of cell-free noncoding RNA biomarker studies in liquid biopsy
  7. Original Article
  8. Investigating the role of tripartite motif containing-21 and interleukin-6 in pro-Inflammatory symptom-associated heterogeneity within primary Sjögren’s syndrome
  9. Reevaluating risk assessment in connective tissue disease-associated pulmonary arterial hypertension: The prognostic superiority of stroke volume index
  10. Prevalence and characteristics of concomitant septic and crystal-induced arthritis: A hospital database and literature review
  11. Association of HLA-B and HLA-DR gene polymorphisms with rheumatoid arthritis: A cross-sectional study in Yunnan Chinese Han population
  12. Letter to the Editor
  13. Association of ficolin single nucleotide polymorphism with systemic lupus erythematosus in the Chinese Han Population
  14. Images
  15. The storm inside: Abdominal and urinary complications in lupus
https://doi.org/10.1515/rir-2025-0023
Creative Commons
BY 4.0

Articles in the same Issue

  1. Editorial
  2. How will we treat systemic lupus erythematosus in the next 5 years?
  3. Guideline
  4. 2025 Chinese guidelines for the diagnosis and treatment of systemic lupus erythematosus
  5. Review
  6. Proceedings of cell-free noncoding RNA biomarker studies in liquid biopsy
  7. Original Article
  8. Investigating the role of tripartite motif containing-21 and interleukin-6 in pro-Inflammatory symptom-associated heterogeneity within primary Sjögren’s syndrome
  9. Reevaluating risk assessment in connective tissue disease-associated pulmonary arterial hypertension: The prognostic superiority of stroke volume index
  10. Prevalence and characteristics of concomitant septic and crystal-induced arthritis: A hospital database and literature review
  11. Association of HLA-B and HLA-DR gene polymorphisms with rheumatoid arthritis: A cross-sectional study in Yunnan Chinese Han population
  12. Letter to the Editor
  13. Association of ficolin single nucleotide polymorphism with systemic lupus erythematosus in the Chinese Han Population
  14. Images
  15. The storm inside: Abdominal and urinary complications in lupus
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