GLIS3 rs7020673 and rs10758593 polymorphisms interact in the susceptibility for type 1 diabetes mellitus
| العنوان: | GLIS3 rs7020673 and rs10758593 polymorphisms interact in the susceptibility for type 1 diabetes mellitus |
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| المؤلفون: | Taís Silveira Assmann, Cristine Dieter, Daisy Crispim, Bianca Marmontel de Souza, Guilherme Coutinho Kullmann Duarte |
| المصدر: | Acta diabetologica. 54(9) |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, Adult, Male, endocrine system diseases, Genotype, Endocrinology, Diabetes and Metabolism, Single-nucleotide polymorphism, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, Endocrinology, Gene Frequency, Internal Medicine, Humans, Genetic Predisposition to Disease, Allele, Allele frequency, Genetic association, Genetics, Haplotype, nutritional and metabolic diseases, Epistasis, Genetic, General Medicine, Middle Aged, DNA-Binding Proteins, Repressor Proteins, 030104 developmental biology, Diabetes Mellitus, Type 1, chemistry, Haplotypes, Case-Control Studies, Trans-Activators, Female, Glycated hemoglobin, Brazil, Genome-Wide Association Study, Transcription Factors |
| الوصف: | The transcription factor Gli-similar 3 (GLIS3) plays a key role in the development and maintenance of pancreatic beta cells as well as in the regulation of Insulin gene expression in adults. Accordingly, genome-wide association studies identified GLIS3 as a susceptibility locus for type 1 diabetes mellitus (T1DM) and glucose metabolism traits. Therefore, the aim of this study was to replicate the association of the rs10758593 and rs7020673 single nucleotide polymorphisms (SNPs) in the GLIS3 gene with T1DM in a Brazilian population. Frequencies of the rs7020673 (G/C) and rs10758593 (A/G) SNPs were analyzed in 503 T1DM patients (cases) and in 442 non-diabetic subjects (controls). Haplotypes constructed from the combination of these SNPs were inferred using a Bayesian statistical method. Genotype and allele frequencies of rs7020673 and rs10758593 SNPs did not differ significantly between case and control groups. However, the frequency of ≥3 minor alleles of the analyzed SNPs in haplotypes was higher in T1DM patients compared to non-diabetic subjects (6.2 vs. 1.6%; P = 0.001). The presence of ≥3 minor alleles remained independently associated with risk of T1DM after adjustment for T1DM high-risk HLA DR/DQ haplotypes, age and ethnicity (OR = 3.684 95% CI 1.220–11.124). Moreover, levels of glycated hemoglobin seem to be higher in T1DM patients with rs10758593 A/A genotype than patients carrying the G allele of this SNP (P = 0.038), although this association was not kept after Bonferroni correction. Our results indicate that individually the rs7020673 and rs10758593 SNPs are not significantly associated with T1DM but seem to interact in the predisposition for this disease. |
| تدمد: | 1432-5233 1075-8593 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90ce89aeba2cc46275d57ecfddafbe87Test https://pubmed.ncbi.nlm.nih.gov/28597135Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....90ce89aeba2cc46275d57ecfddafbe87 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14325233 10758593 |
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