1篇
您的检索式：作者名="Simona Perga"
|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Genomic and functional evaluation of TNFSF14 in multiple sclerosis susceptibility显示文摘Among multiple sclerosis(MS)susceptibility genes,the strongest non-human leukocyte antigen(HLA)signal in the Italian population maps to the TNFSF14 gene encoding LIGHT,a glycoprotein involved in dendritic cell(DC)maturation.Through fine-mapping in a large Italian dataset(4,198 patients with MS and3,903 controls),we show that the TNFSF14 intronic SNP rs1077667 is the primarily MS-associated variant in the region.Expression quantitative trait locus(e QTL)analysis indicates that the MS risk allele is significantly associated with reduced TNFSF14 messenger RNA levels in blood cells,which is consistent with the allelic imbalance in RNA-Seq reads(P<0.0001).The MS risk allele is associated with reduced levels of TNFSF14 gene expression(P<0.01)in blood cells from 84 Italian patients with MS and 80 healthy controls(HCs).Interestingly,patients with MS are lower expressors of TNFSF14 compared to HC(P<0.007).Individuals homozygous for the MS risk allele display an increased percentage of LIGHT-positive peripheral blood myeloid DCs(CD11 c+,P=0.035)in 37 HCs,as well as in in vitro monocyte-derived DCs from 22 HCs(P=0.04).Our findings suggest that the intronic variant rs1077667 alters the expression of TNFSF14 in immune cells,which may play a role in MS pathogenesis. | Miriam Zuccala Nadia Barizzone Elena Boggio Luca Gigliotti Melissa Sorosina Chiara Basagni Roberta Bordoni Ferdinando Clarelli Santosh Anand Eleonora Mangano Domizia Vecchio Elena Corsetti Serena Martire Simona Perga Daniela Ferrante Alberto Gajofatto Andrei Ivashynka Claudio Solaro Roberto Cantello Vittorio Martinelli Giancarlo Comi Massimo Filippi Federica Esposito Maurizio Leone Gianluca De Beilis Umberto Dianzani Filippo Martinelli-Boneschi Sandra D’Alfonso | 2021 | Journal of Genetics and Genomics2021，48，6： | 0 |
您所在的机构暂未开通此部分的功能，请联系管理员