Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1
| Autor: | Hetal Pandya, Maria R. Wing, Carl D. Langefeld, Donald W. Bowden, Josyf C. Mychaleckyj, B. I. Freedman, Joshua P. Lewis, Nicholette D. Palmer, Bong H. Roh, M. Zhong, Jennifer L. Bento, Stephen S. Rich |
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| Rok vydání: | 2008 |
| Předmět: |
Linkage disequilibrium
endocrine system diseases Population Quantitative Trait Loci Chromosomes Human Pair 20 Single-nucleotide polymorphism Locus (genetics) Biology Polymorphism Single Nucleotide White People Article End stage renal disease Association End-stage renal disease 03 medical and health sciences 0302 clinical medicine Genetics SNP Guanine Nucleotide Exchange Factors Humans Diabetic Nephropathies Genetic Predisposition to Disease education 030304 developmental biology Adaptor Proteins Signal Transducing 0303 health sciences education.field_of_study Haplotype Type 2 diabetes Cadherins 3. Good health Cytoskeletal Proteins Chromosome 20 Haplotypes Diabetes Mellitus Type 2 Case-Control Studies Kidney Failure Chronic Heterogeneity 030217 neurology & neurosurgery SNPs |
| Zdroj: | Genomics. 92(4) |
| ISSN: | 1089-8646 |
| Popis: | Human chromosome 20q12-13.1 has been linked to type 2 diabetes mellitus (T2DM) in multiple studies. We screened a 5.795Mb region for diabetes-related susceptibility genes in a Caucasian cohort of 310 controls and 300 cases with T2DM and end stage renal disease (ESRD), testing 390 SNPs for association with T2DM-ESRD. The most significant SNPs were found in the perigenic regions, HNF4A (hepatocyte nuclear factor 4-alpha), SLC12A5 (potassium-chloride cotransporter member 5), CDH22 (cadherin-like 22), ELMO2 (engulfment and cell motility 2), SLC13A3 (sodium-dependent dicarboxylate transporter member 3), and PREX1 (phosphatidylinositol 3,4,5-triphosphate-dependent RAC exchanger 1). Haplotype analysis found 6 haplotype blocks globally associated with disease (p |
| Databáze: | OpenAIRE |
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