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Genetic risk scores were calculated by summing the risk alleles of 4 selected single nucleotide polymorphisms, CDKAL1 rs7754840 and rs9460546, HHEX rs5015480, and OAS3
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There is a significant association between CDKAL1 rs10946398 and type 2 diabetes among Taiwanese men and women. The CC genotype is a risk factor for type 2 diabetes in women with BMI >/= 24 kg/m2, as well as in men regardless of their BMI. The CA genotype appears to be a risk factor for T2D mainly in obese individuals.
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significant risk association between rs9465871 polymorphism and obesity and development of T2DM in Egyptian children
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We identified and replicated genetic variants associated with cholesterol efflux capacity using a genome-wide association study-based approach. CDKAL1 variants showed correlations with cholesterol efflux capacity independent of HDL-cholesterol levels and other clinical characteristics.
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The CDKAL1 rs9356744 T allele associated with a predisposition to obesity shows a protective effect on HbA1c, 2hPG, and prediabetes in Chinese; BMI is mediator of the association between the genetic variant and HbA1c, 2hPG, and prediabetes.
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we identified CDKAL1 rs7756992 as a susceptibility locus for DR in a Chinese population with type 2 diabetes.
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Non-significant association was seen in the two single nucleotide polymorphisms (SNPs) of CDKAL1 (rs7754840) and CDKN2A/2B (rs10811661) with gestational diabetes mellitus (GDM).
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chromosomal region 6p22.3 is a novel susceptibility locus for nsCL/P. The location of the risk variants within the CDKAL1 intronic sequence containing enhancer elements predicted to regulate the SOX4 transcription may suggest that SOX4, rather than CDKAL1, is a potential candidate gene for this craniofacial anomaly.
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More CDKAL1 variants are required to validate the association between CDKAL1 and gestational glycemic traits.
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Forced MT1E expression rescues both hypersensitivity of CDKAL1 mutant cells to glycolipotoxicity and pancreatic beta-cell dysfunction in vitro and in vivo.
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CDKAL1 gene is associated with development of type 2 diabetes. For the HHEX/IDE locus, such an association is absent.
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family-based GWAS of imputed SNPs revealed novel genomic variants in (or near) PTPRG, OSBPL6, and PDCL3 that influence risk for Alzheimer's Disease. rs7609954 in the gene PTPRG, rs1347297 in the gene OSBPL6, and rs1513625 near PDCL3. In addition, rs72953347 in OSBPL6 and two SNPs in the gene CDKAL1 showed marginally significant association with LOAD (rs10456232, P-value=4.76 x 10-7; rs62400067, P-value=3.54 x 10-7).
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The multivariate logistic regression analysis with reference to both alleles and genotypes of CDKAL1 SNPs showed significant association, suggesting an important role for this gene in the T2DM pathophysiology. INTERPRETATION & CONCLUSIONS: A significant association was seen of all the three SNPs of CDKAL1 and CDKN2A/B genes with T2DM but none of the two SNPs of HHEX.
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Study provides evidence that SNPs of JMJD1C and KCNQ1 are prospectively associated with the risk of type 2 diabetes (T2D) in Korean population. Additionally, CDKAL1 may not be associated with T2D onset over the age of 40.
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Our results suggest that rs6908425 in CDKAL1 is associated with the risk of developing SAPHO in Han Chinese populations. People who carry the risk allele T of rs6908425 might be more prone to developing SAPHO syndrome.
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We investigated the association between 8 single-nucleotide polymorphisms (SNPs) at 3 genetic loci (CDKAL1, CDKN2A/2B and FTO) with type 2 diabetes (T2D) in a Uyghur population
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our data suggested that CDKAL1 gene variants have a significant effect on the response to anti-TNF therapies among Psoriasis patients
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Risk alleles for 6 loci increased glucose levels from birth to 5 years of age (ADCY5, ADRA2A, CDKAL1, CDKN2A/B, GRB10, and TCF7L2
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rs10946398 associated with markers of impaired insulin secretion
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We observed novel selection signals in CDKAL1 and NEGR1, well-known diabetes and obesity susceptibility genes