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Single nucleotide polymorphism(SNP)in genes of lupus:A Philippine study(SIGLA-PH)

Rheumatology & Autoimmunity 2022年第1期2卷 22-30页

作者： Michael L.Tee Cherica A.Tee Jose B.Nevado Jr Angeline Therese Santiago Aedrian A.Abrilla Carlo M.Lapid francis a.tablizo Joshua A.Dizon El K.B.Morado Eva Maria Cutiongco-Dela Paz College of Medicine University of the Philippines ManilaManilaPhillipines Institute of Human Genetics National Institutes of HealthUniversity of the Philippines ManilaManilaPhillipines College of Medicine and Philippine General Hospital University of the Philippines ManilaManilaPhillipines Core Facility for Bioinformatics Philippine Genome CenterUniversity of the PhilippinesManilaPhillipines National Institutes of Health University of the Philippines ManilaManilaPhillipines

Background:Systemic lupus erythematosus(SLE)is a complex prototypic autoimmune disease,with a prevalence of 20–150 per 100,000,most commonly affecting women at child-bearing ***-wide association studies and fine mapping of candidate regions have paved the way for greater understanding of SLE as a disease of genetic–environmental susceptibility and the functions of the genes ***:This study was conducted to determine the association of selected single nucleotide polymorphisms(SNPs)from established genomic databases based on theoretical risk and protective odds ratios>2.5 or<0.40)to susceptibility of developing SLE among ***:We analyzed data from 310 SLE patients and 318 *** identified eight significant SNPs namely rs9271100,rs9271366,rs9272105,rs9275328,rs2647087,rs12734338,rs17885098,and rs3883013 to be associated with an increased risk of developing SLE among ***:Eight SNPs were found to be associated with the development of SLE among *** to previous genetic studies in lupus patients,majority of the SNPs were found in the major histocompatibilty complex genes in the HLA *** study identified two unique SNPs that will be validated as potential diagnostic markers for *** findings of this study may contribute to the development of a polygenic risk score in determining susceptibility to SLE among Filipinos.

关键词： genetics lupus SLE SNP susceptibility

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