Genetic analysis of type 1 diabetes and juvenile dermatomyositis uncovers common genetic susceptibility

By Samar Mahmoud, MS
Published February 28, 2022

Key Takeaways

  • This study uncovered novel mechanisms of juvenile dermatomyositis (JDM) that are related to type 1 diabetes (T1D) genes. 

  • The T1D genes that code for phospholipase B1, cystic fibrosis transmembrane conductance regulator, tyrosine hydroxylase, CD6 molecule, perforin 1, and dynein axonemal heavy chain 2, are potentially linked to JDM.

  • This study identified potential therapeutic targets for JDM that will need to be validated with future studies.

JDM and T1D are autoimmune genetic diseases. Previous studies have demonstrated an increased risk of JDM in patients with T1D. Similarly, T1D is prevalent among families with JDM.

Why This Study Matters 

While previous studies have suggested a link between JDM and T1D, it remains unclear whether the two autoimmune diseases have a similar genetic predisposition. To fill this gap, this study sought to determine whether JDM and T1D share a common genetic susceptibility.

Study Design 

This study included 121 JDM families with European ancestry (EA) which were identified by genome-wide genotyping, principal component analysis, and identical-by-descent analysis. In each case, T1D genetic risk scores were calculated and compared with 361 EA T1D cases and 1943 non-diabetic EA control subjects. In addition, 113 out of the 121 cases were sequenced by whole exome sequencing. 

Results and Conclusions

Investigators observed increased T1D genetic risk scores in JDM cases (P=9.42E-05). By using whole exome sequencing, investigators uncovered that the following T1D genes were associated with JDM: phospholipase B1, cystic fibrosis transmembrane conductance regulator, tyrosine hydroxylase, CD6 molecule, perforin 1, and dynein axonemal heavy chain 2. Due to the limited sample size of this study, assessing the association of T1D genes with JDM in independent population cohorts is important. 

Related Research

Consider these findings from similar research studies:

  • This large genetic study identified 78 genome-wide regions, including 36 novel regions, associated with type 1 diabetes (Source). 

  • Complement C4A-deficiency is an important genetic risk factor for the development of JDM (Source).

Original Source 

Qu HQ, Qu J, Vaccaro C, et al. Genetic analysis for type 1 diabetes genes in juvenile dermatomyositis unveils genetic disease overlap. Rheumatology. Published online February 16, 2022:keac100.

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