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Gene-Expression-Guided Selection of Candidate Loci and Molecular Phenotype Analyses Enhance Genetic Discovery in Systemic Lupus Erythematosus
المؤلفون المشاركون
Franek, Beverly S.
Skol, Andrew D.
Kariuki, Silvia N.
Arrington, Jasmine
Ko, Kichul
Kumabe, Marissa
Niewold, Timothy B.
Koldobskaya, Yelena
Kumar, Akaash A.
Agik, Sandra
Jolly, Meenakshi
Utset, Tammy O.
المصدر
Clinical and Developmental Immunology
العدد
المجلد 2012، العدد 2012 (31 ديسمبر/كانون الأول 2012)، ص ص. 1-9، 9ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2012-09-04
دولة النشر
مصر
عدد الصفحات
9
التخصصات الرئيسية
الملخص EN
Systemic lupus erythematosus (SLE) is a highly heterogeneous autoimmune disorder characterized by differences in autoantibody profiles, serum cytokines, and clinical manifestations.
We have previously conducted a case-case genome-wide association study (GWAS) of SLE patients to detect associations with autoantibody profile and serum interferon alpha (IFN-α).
In this study, we used public gene expression data sets to rationally select additional single nucleotide polymorphisms (SNPs) for validation.
The top 200 GWAS SNPs were searched in a database which compares genome-wide expression data to genome-wide SNP genotype data in HapMap cell lines.
SNPs were chosen for validation if they were associated with differential expression of 15 or more genes at a significance of P<9×10−5.
This resulted in 11 SNPs which were genotyped in 453 SLE patients and 418 matched controls.
Three SNPs were associated with SLE-associated autoantibodies, and one of these SNPs was also associated with serum IFN-α (P<4.5×10−3 for all).
One additional SNP was associated exclusively with serum IFN-α.
Case-control analysis was insensitive to these molecular subphenotype associations.
This study illustrates the use of gene expression data to rationally select candidate loci in autoimmune disease, and the utility of stratification by molecular phenotypes in the discovery of additional genetic associations in SLE.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Koldobskaya, Yelena& Ko, Kichul& Kumar, Akaash A.& Agik, Sandra& Arrington, Jasmine& Kariuki, Silvia N.…[et al.]. 2012. Gene-Expression-Guided Selection of Candidate Loci and Molecular Phenotype Analyses Enhance Genetic Discovery in Systemic Lupus Erythematosus. Clinical and Developmental Immunology،Vol. 2012, no. 2012, pp.1-9.
https://search.emarefa.net/detail/BIM-490123
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Koldobskaya, Yelena…[et al.]. Gene-Expression-Guided Selection of Candidate Loci and Molecular Phenotype Analyses Enhance Genetic Discovery in Systemic Lupus Erythematosus. Clinical and Developmental Immunology No. 2012 (2012), pp.1-9.
https://search.emarefa.net/detail/BIM-490123
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Koldobskaya, Yelena& Ko, Kichul& Kumar, Akaash A.& Agik, Sandra& Arrington, Jasmine& Kariuki, Silvia N.…[et al.]. Gene-Expression-Guided Selection of Candidate Loci and Molecular Phenotype Analyses Enhance Genetic Discovery in Systemic Lupus Erythematosus. Clinical and Developmental Immunology. 2012. Vol. 2012, no. 2012, pp.1-9.
https://search.emarefa.net/detail/BIM-490123
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-490123
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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