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https://www.readbyqxmd.com/read/27729837/recapitulation-of-candidate-systemic-lupus-erythematosus-associated-variants-in-koreans
#1
Ki-Sung Kwon, Hye-Young Cho, Yeun-Jun Chung
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects multiple organ systems. Although the etiology of SLE remains unclear, it is widely accepted that genetic factors could be involved in its pathogenesis. A number of genome-wide association studies (GWASs) have identified novel single-nucleotide polymorphisms (SNPs) associated with the risk of SLE in diverse populations. However, not all the SNP candidates identified from non-Asian populations have been validated in Koreans. In this study, we aimed to replicate the SNPs that were recently discovered in the GWAS; these SNPs have not been validated in Koreans or have only been replicated in Koreans with an insufficient sample size to conclude any association...
September 2016: Genomics & Informatics
https://www.readbyqxmd.com/read/24596594/gene-expression-in-thiazide-diuretic-or-statin-users-in-relation-to-incident-type-2-diabetes
#2
Astrid Suchy-Dicey, Susan R Heckbert, Nicholas L Smith, Barbara McKnight, Jerome I Rotter, Yd Ida Chen, Bruce M Psaty, Daniel A Enquobahrie
Thiazide diuretics and statins are used to improve cardiovascular outcomes, but may also cause type 2 diabetes (T2DM), although mechanisms are unknown. Gene expression studies may facilitate understanding of these associations. Participants from ongoing population-based studies were sampled for these longitudinal studies of peripheral blood microarray gene expression, and followed to incident diabetes. All sampled subjects were statin or thiazide users. Those who developed diabetes during follow-up comprised cases (44 thiazide users; 19 statin users), and were matched to drug-using controls who did not develop diabetes on several factors...
2014: International Journal of Molecular Epidemiology and Genetics
https://www.readbyqxmd.com/read/17504899/isolated-46-xy-gonadal-dysgenesis-in-two-sisters-caused-by-a-xp21-2-interstitial-duplication-containing-the-dax1-gene
#3
Michela Barbaro, Mikael Oscarson, Jacqueline Schoumans, Johan Staaf, Sten A Ivarsson, Anna Wedell
CONTEXT: Testis development is a tightly regulated process that requires an efficient and coordinated spatiotemporal action of many factors, and it has been shown that several genes involved in gonadal development exert a dosage effect. Chromosomal imbalances have been reported in several patients presenting with gonadal dysgenesis as part of severe dysmorphic phenotypes. RESULTS: We screened for submicroscopic DNA copy number variations in two sisters with an apparent normal 46,XY karyotype and female external genitalia due to gonadal dysgenesis, and in which mutations in known candidate genes had been excluded...
August 2007: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/17347996/dysregulation-of-x-linked-gene-expression-in-klinefelter-s-syndrome-and-association-with-verbal-cognition
#4
Marquis P Vawter, Philip D Harvey, Lynn E DeLisi
Klinefelter's Syndrome (KS) is a chromosomal karyotype with one or more extra X chromosomes. KS individuals often show language impairment and the phenotype might be due to overexpression of genes on the extra X chromosome(s). We profiled mRNA derived from lymphoblastoid cell lines from males with documented KS and control males using the Affymetrix U133P microarray platform. There were 129 differentially expressed genes (DEGs) in KS group compared with controls after Benjamini-Hochberg false discovery adjustment...
September 5, 2007: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
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