Chinese scientists have discovered new genes related to multiple sclerosis

Multiple sclerosis (MS) is a chronic, inflammatory, demyelinating degenerative disease of the central nervous system that affects more than 2.
3 million people
worldwide.
Due to the different clinical features of MS and the poor efficacy of existing treatments, it is important
to identify biomarkers of MS to aid early diagnosis and treatment.
Recently, a joint study by West China Hospital of Sichuan University, the Third Affiliated Hospital of Chengdu Medical College and Hainan Provincial People's Hospital found that SHMT1, FAM120B and ICA1L genes may be related to
the pathogenesis of MS 。 The results were published in the journal Annals of Clinical and Translational Neurology as "Brain proteome-wide association study linking-genes in multiple sclerosis pathogenesis"
.

Using the Whole Proteome Association Study (PWAS), the researchers integrated MS genome-wide association study (GWAS) data with two different human brain proteome data, the dorsolateral prefrontal cortex (dlPFC), to identify genes
that contribute to MS risk by influencing brain protein abundance.
First, the researchers used the protein quantitative trait loci (pQTL) data of 376 dlPFC samples in the ROSMAP dataset to integrate the existing MS GWAS results to identify 51 cis-regulating brain protein levels through PWAS
.
Second, using the same WS GWAS data and pQTL data from 152 samples in the Banner dataset, 18 genes were validated
compared to the 51 genes identified earlier.
Next, 6 risk genes
with a causal relationship with MS were identified through Bayesian colocalization analysis.
Finally, differential expression analysis showed that SHMT1 and FAM120B were upregulated in the white matter lesion area, and ICA1L was downregulated
in the gray matter lesion area.

This study provides new insights into the pathogenesis of MS and provides potential targets for future treatments
.