CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations

Rana Dajani, Jin Li, Zhi Wei, Joseph T. Glessner, Xiao Chang, Christopher J. Cardinale, Renata Pellegrino, Tiancheng Wang, Nancy Hakooz, Yousef Khader, Amina Sheshani, Duaa Zandaki, Hakon Hakonarson

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


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.

Original languageEnglish (US)
Article number13391
JournalScientific reports
StatePublished - Aug 21 2015
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • General


Dive into the research topics of 'CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations'. Together they form a unique fingerprint.

Cite this