Association of Genetic Variants in Complement Factor H and Factor H-Related Genes with Systemic Lupus Erythematosus Susceptibility보체 인자 H 및 인자 H 관련 유전자의 유전적 변이체와 전신성 홍반성 루푸스 감수성의 연관성Research Article Published on 2011-05-262022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, [키워드] Activation addition African American African Americans allelic American amplification Analysis Asian Asians association Author Autoimmune disease Case-control causal variant CFH CFHR1 CFHR3 CFHR4 CFHR5 chromosome chromosome 1q32 complement Complement activation complex contribute datasets Deletion described detected disease-associated downstream dysregulated Ethnic groups European Evidence exonic exonic SNPs Factor FIVE Gene genes encoding Genetic variant genetic variants genotypic haplotype analysis heterozygous higher risk homozygous human disease human diseases impair intron Intronic locus Lupus lupus erythematosus multiplex Pathogenesis populations Previous studies previous study probe Protein provide provided Regulation Significant SLE SNP SNPs subject suggested susceptibility systemic systemic lupus erythematosus tested variant variants [DOI] 10.1371/journal.pgen.1002079 PMC 바로가기 [Article Type] Research Article
A −436C>A Polymorphism in the Human FAS Gene Promoter Associated with Severe Childhood MalariaA −436C>심각한 아동기 말라리아와 관련된 인간 FAS 유전자 프로모터의 다형성Research Article Published on 2011-05-192022-09-06 Journal: PLoS Genetics [Category] Communicable Disease, 말라리아, [키워드] 95% confidence interval A allele a major activated affected allele Analysis Anemia Apoptosis applied assigned association Author carried Case-control caused CD69 Cell cell surface receptor cerebral malaria childhood children Community compared complex interplay complications Control Donor ENCODE Endemic Express expression FACS analysis FAS fatality found functional Genetic variant genetic variants genetics Health healthy individual help heterozygote homozygote homozygous Human Human genetics immune regulation immune response immune responses increased expression individual Infection investigated involved life-threatening locus lymphocyte Lymphocytes malaria molecule mononuclear cell mononuclear cells naïve nucleotide Occurrence Odds ratio outcome Pediatric case Peripheral blood Peripheral blood mononuclear cells phenotypic Plasmodium Plasmodium falciparum predisposition programmed cell death promoter promoter region proportion PROTECT Protective protective immune response Replication risk severe severe malaria significantly significantly higher Single nucleotide variant sub-Saharan Africa subgroup surface receptor susceptibility susceptible syndrome T-lymphocyte the disease Transmission dynamics variant West [DOI] 10.1371/journal.pgen.1002066 PMC 바로가기 [Article Type] Research Article