A Functional Variant in MicroRNA-146a Promoter Modulates Its Expression and Confers Disease Risk for Systemic Lupus Erythematosus
2011

Genetic Variant in miR-146a Linked to Systemic Lupus Erythematosus

Sample size: 3968 publication 10 minutes Evidence: high

Author Information

Author(s): Luo Xiaobing, Yang Wanling, Ye Dong-Qing, Cui Huijuan, Zhang Yan, Hirankarn Nattiya, Qian Xiaoxia, Tang Yuanjia, Lau Yu Lung, de Vries Niek, Tak Paul Peter, Tsao Betty P., Shen Nan

Primary Institution: Joint Molecular Rheumatology Laboratory of the Institute of Health Sciences and Shanghai Renji Hospital, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai Jiaotong University School of Medicine, Shanghai, China

Hypothesis

Does a genetic variant in the promoter of miR-146a affect its expression and contribute to the risk of systemic lupus erythematosus (SLE)?

Conclusion

The study identifies a genetic variant in the miR-146a promoter that reduces its expression and is associated with an increased risk of systemic lupus erythematosus.

Supporting Evidence

  • The study replicated the association of the genetic variant in multiple independent cohorts.
  • Lower levels of miR-146a were observed in individuals with the risk-associated G allele.
  • Functional assays demonstrated that the G allele reduced the promoter activity of miR-146a.

Takeaway

Scientists found a tiny change in a gene that helps control a molecule important for the immune system, which can make some people more likely to get lupus, a disease that affects how the body fights infections.

Methodology

The researchers sequenced the promoter region of miR-146a in SLE patients and controls, identified genetic variants, and performed functional assays to assess their impact on miR-146a expression.

Limitations

The study primarily focused on Asian populations, which may limit the generalizability of the findings to other ethnic groups.

Participant Demographics

The study included 3,968 SLE patients and 3,214 controls, primarily of Asian descent.

Statistical Information

P-Value

2.74×10−8

Confidence Interval

1.18–1.40

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1371/journal.pgen.1002128

Want to read the original?

Access the complete publication on the publisher's website

View Original Publication