ArticleScientific reports2015
CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies.Journal of community genetics · 2023Review
- Copy Number Variations in Neuropsychiatric Disorders.International journal of molecular sciences · 2023Review
- inCNV: An Integrated Analysis Tool for Copy Number Variation on Whole Exome Sequencing.Evolutionary bioinformatics online · 2020Review
- Identifying disease-associated copy number variations by a doubly penalized regression model.Biometrics · 2018Article
- Improving Disease Prediction by Incorporating Family Disease History in Risk Prediction Models with Large-Scale Genetic Data.Genetics · 2017Article
- Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.BMC urology · 2016Article
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Authors and funding
13 authors.
Funding
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Abstract
Previous studies have identified a number of single nucleotide polymorphisms (SNPs) associated with type-2 diabetes (T2D), but copy number variation (CNV) association has rarely been addressed, especially in populations from Jordan. To investigate CNV associations for T2D in populations in Jordan, we conducted a CNV analysis based on intensity data from genome-wide SNP array, including 34 T2D cases and 110 healthy controls of Chechen ethnicity, as well as 34 T2D cases and 106 healthy controls of Circassian ethnicity. We found a CNV region in protein tyrosine phosphatase receptor type D (PTPRD) with significant association with T2D. PTPRD has been reported to be associated with T2D in genome-wide association studies (GWAS). We additionally identified 16 CNV regions associated with T2D which overlapped with gene exons. Of particular interest, a CNV region in the gene AKNA Domain Containing 1 (AKNAD1) surpassed the experiment-wide significance threshold. Endoplasmic reticulum (ER)-related pathways were significantly enriched among genes which are predicted to be functionally associated with human or mouse homologues of AKNAD1. This is the first CNV analysis of a complex disease in populations of Jordan. We identified and experimentally validated a significant CNVR in gene AKNAD1 associated with T2D.
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