The Genetic Inheritance Basis of Systemic Lupus Erythematosus

Student: Bohan Zheng
Table: MED2
Experimentation location: Home
Regulated Research (Form 1c): No
Project continuation (Form 7): No

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1. Banchereau, J. & Pascual, V. Type I interferon in systemic lupus erythematosus and other autoimmune diseases. Immunity 25, 383?392 (2006).

2. Centers for Disease Control and Prevention. "Systemic Lupus Erythematosus (SLE)." CDC, Accessed 16 Aug. 2022.

3. Choi, Jinyoung et al. "The pathogenesis of systemic lupus erythematosus-an update." Current opinion in immunology vol. 24,6 (2012): 651-7. doi:10.1016/j.coi.2012.10.004

4. Dam, Elizabeth M et al. "The BANK1 SLE-risk variants are associated with alterations in peripheral B cell signaling and development in humans." Clinical immunology (Orlando, Fla.) vol. 173 (2016): 171-180. doi:10.1016/j.clim.2016.10.018

5. Elkon, Keith B, and Vivian V Stone. "Type I interferon and systemic lupus erythematosus." Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research vol. 31,11 (2011): 803-12. doi:10.1089/jir.2011.0045

6. Fava, Andrea, and Michelle Petri. "Systemic lupus erythematosus: Diagnosis and clinical management." Journal of autoimmunity vol. 96 (2019): 1-13. doi:10.1016/j.jaut.2018.11.001

7. Hussain, Nageen et al. "HLA association in SLE patients from Lahore-Pakistan." Bosnian journal of basic medical sciences vol. 11,1 (2011): 20-6. doi:10.17305/bjbms.2011.2618

8. J, De Azevêdo Silva et al. "Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations." Current genomics vol. 15,1 (2014): 52-65. doi:10.2174/138920291501140306113715

9. Jiang, S.H., Athanasopoulos, V., Ellyard, J.I. et al. Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus. Nat Commun 10, 2201 (2019).

10. Ramos, Paula S et al. "Genetic factors predisposing to systemic lupus erythematosus and lupus nephritis." Seminars in nephrology vol. 30,2 (2010): 164-76. doi:10.1016/j.semnephrol.2010.01.007

11. Savitsky, David A et al. "Contribution of IRF5 in B cells to the development of murine SLE-like disease through its transcriptional control of the IgG2a locus." Proceedings of the National Academy of Sciences of the United States of America vol. 107,22 (2010): 10154-9. doi:10.1073/pnas.1005599107

12. Tokano, Y et al. "Levels of IL-12 in the sera of patients with systemic lupus erythematosus (SLE)--relation to Th1- and Th2-derived cytokines." Clinical and experimental immunology vol. 116,1 (1999): 169-73. doi:10.1046/j.1365-2249.1999.00862.x

13. Yang, H., Wang, K. Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR. Nat Protoc 10, 1556?1566 (2015).


Additional Project Information

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Project files

Research Plan:

Through multiple gene-wide association studies, 36 plausible SNPs were found. Then, a series of analyses including gene linkage maps, gene expression, and gene function research were conducted with the help of database tools. Results were concluded and presented through an assortment of charts and graphs.

Questions and Answers


1. What was the major objective of your project and what was your plan to achieve it? 

       a. Was that goal the result of any specific situation, experience, or problem you encountered?  

       b. Were you trying to solve a problem, answer a question, or test a hypothesis?

The major objective of this project was to investigate the genetic basis of a multi-factor inheritance disease, such as SLE. In this sense, we were aiming to answer this question.

2. What were the major tasks you had to perform in order to complete your project?

       a. For teams, describe what each member worked on.


3. What is new or novel about your project?

       a. Is there some aspect of your project's objective, or how you achieved it that you haven't done before?

       b. Is your project's objective, or the way you implemented it, different from anything you have seen?

       c. If you believe your work to be unique in some way, what research have you done to confirm that it is?

This study performed a systemic analysis of SNPs and genes associated with SLE, using primarily the GWAS system. Over thirty SNPs, and a similar number of genes were involved in this study, and by analyzing their effects on human physiology and disease occurrence, this study sims to produce a systematic report on genetics causes of SLE. This process heavily involved looking at linkage between genes and how they worked together to influence susceptibility to SLE. This study showed the assortment of SNPs that could affect SLE susceptibility, connection between gene function, as well as the linkage between the genes involved. Further experiments will provide information regarding the mechanisms by which genes regulate cytokines and symptoms of SLE.

4. What was the most challenging part of completing your project?

      a. What problems did you encounter, and how did you overcome them?

      b. What did you learn from overcoming these problems?

The most challenging part was definitely analyzing online data, it was a tedious process, and the act of evaluating genes that may have led to this genetic disease is a hard process.

5. If you were going to do this project again, are there any things you would you do differently the next time?

I would definitely work on this project in closed, in-person, laboratory conditions, to test and evaluate online data in a more formal method.

6. Did working on this project give you any ideas for other projects? 

This summer, I will be investigating CRISPR at a University Laboratory, and how it may alter single nucleotide polymorphisms.

7. How did COVID-19 affect the completion of your project?

This project completed last summer was meant to be in-person, yet Covid-19 prevented that, so it became an online-based study.