A&R: Transcriptomics evaluation of adolescent skin with local scleroderma with histological and clinical relevance

Juvenile local scleroderma (LS) is a rare autoimmune disease, and its pathogenesis is not yet fully understood
.

This study used RNA sequencing (RNA-Seq) to compare the transcriptome differences between skin biopsies of children with LS and healthy children , and found important molecular targets

Juvenile local scleroderma (LS) is a rare autoimmune disease, and its pathogenesis is not yet fully understood

RNA sequencing was performed on paraffin-embedded sections of skin tissuesof 28 children with adolescent LS and 10 pediatric healthy controls .
RNA sequencing used Illumina HTS TruSeq RNA Access for library preparation, and data aligned using STAR , and analyzed using the DESeq2 platform .
A standardized histological scoring system is used to score the severity of inflammation and the level of collagen deposition in skin sections .
The histological scoring was done by 2 pathologists who were unaware of the condition of the sample .
The Spearman rank correlation coefficient is used to evaluate the correlation between DEG expression and skin histological findings in adolescent LS patients .

Compared with healthy controls, the researchers found 589 significant DEGs in adolescent LS children .

Hierarchical clustering proves that there are 3 different adolescent LS immunophenotype clusters .
The histological skin inflammation score based on the number and type of inflammatory cell infiltration was significantly correlated with the expression levels of HLA-DPB1 , HLA-DQA2 , HLA-DRA and STAT1 genes ( r _s > 0.
5 , P <0.
01 ) .
Collagen thickness is related to the expression level of collagen tissue genes and genes related to the severity of inflammation, including major histocompatibility complex (MHC) category genes I , MHC II, and interferon - γ signals .

      Compared with healthy controls, the researchers found 589 significant DEGs in adolescent LS children .
Hierarchical clustering proves that there are 3 different adolescent LS immunophenotype clusters .
The histological skin inflammation score based on the number and type of inflammatory cell infiltration was significantly correlated with the expression levels of HLA-DPB1 , HLA-DQA2 , HLA-DRA and STAT1 genes ( r _s > 0.
5 _s , P <0.
01 ) .

Conclusion: Conclusion:

     In children with juvenile LS , 3 different genetic traits or clusters were
identified .

In one cluster, inflammation-related pathways were upregulated, corresponding to a higher histological score for skin inflammation

     In children with juvenile LS , 3 different genetic traits or clusters were

Source:

Source:

Schutt C, Mirizio E, Salgado C, Reyes-Mugica M, Wang X, Chen W, Grunwaldt L, Schollaert KL, Torok KS.

Transcriptomic Evaluation of Juvenile Localized Scleroderma Skin With Histologic and Clinical Correlation.
Arthritis Rheumatol.
2021 Oct;73( 10):1921-1930.
doi: 10.

Schutt C, Mirizio E, Salgado C, Reyes-Mugica M, Wang X, Chen W, Grunwaldt L, Schollaert KL, Torok KS.
Transcriptomic Evaluation of Juvenile Localized Scleroderma Skin With Histologic and Clinical Correlation.
Arthritis Rheumatol.
2021 Oct;73( 10):1921-1930.
doi: 10.
1002/art.
41758.
Epub 2021 Aug 31.
PMID: 33844442.
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