NDLI: Whole-genome re-sequencing for the identification of high contribution susceptibility gene variants in patients with type 2 diabetes.

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Whole-genome re-sequencing for the identification of high contribution susceptibility gene variants in patients with type 2 diabetes.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Sun, Xiaojuan Ou, Minglin Wang, Xiaobing Sui, Weiguo Hou, Xianliang Xiang, Yueying Dai, Yong
Description	Author Affiliation: Sun X ( Department of Social Medicine and Health Service Management, College of Military Preventive Medicine, Third Military Medical University, Chongqing 400038, P.R. China.); Sui W ( Nephrology Department, 181st Hospital and Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi 541002, P.R. China.); Wang X ( Department of Health Management Center, 181st Hospital, Guilin, Guangxi 541002, P.R. China.); Hou X ( Nephrology Department, 181st Hospital and Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi 541002, P.R. China.); Ou M ( Nephrology Department, 181st Hospital and Guangxi Key Laboratory of Metabolic Diseases Research, Guilin, Guangxi 541002, P.R. China.); Dai Y ( Department of Clinical Medical Research Center, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, Guangdong 518020, P.R. China.); Xiang Y ( Department of Health Management Center, 181st Hospital, Guilin, Guangxi 541002, P.R. China.)
Abstract	There is increasing evidence that several genes are associated with an increased risk of type 2 diabetes (T2D); genome-wide association investigations and whole-genome resequencing investigations offer a useful approach for the identification of genes involved in common human diseases. To further investigate which polymorphisms confer susceptibility to T2D, the present study screened for highcontribution susceptibility gene variants Chinese patients with T2D using wholegenome resequencing with DNA pooling. In total, 100 Chinese individuals with T2D and 100 healthy Chinese individuals were analyzed using wholegenome resequencing using DNA pooling. To minimize the likelihood of systematic bias in sampling, pairedend libraries with an insert size of 500 bp were prepared for in T2D in all samples, which were then subjected to wholegenome sequencing. Each library contained four lanes. The average sequencing depth was 35.70. In the present study, 1.36 GB of clean sequence data were generated, and the resulting calculated T2D genome consensus sequence covered 99.88% of the hg19 sequence. A total of 3,974,307 single nucleotide polymorphisms were identified, of which 99.88% were in the dbSNP database. The present study also found 642,189 insertions and deletions, 5,590 structure variants (SVs), 4,713 copy number variants (CNVs) and 13,049 single nucleotide variants. A total of 1,884 somatic CNVs and 74 somatic SVs were significantly different between the cases and controls. Therefore, the present study provided validation of wholegenome resequencing using the DNA pooling approach. It also generated a whole-genome re-sequencing genotype database for future investigations of T2D.
ISSN	17912997
e-ISSN	17913004
DOI	10.3892/mmr.2016.5014
Journal	Molecular Medicine Reports
Issue Number	5
Volume Number	13
Language	English
Publisher	Spandidos Publications
Publisher Date	2016-05-01
Publisher Place	Greece
Access Restriction	Open
Subject Keyword	Discipline Molecular Biology
Content Type	Text
Resource Type	Article
Subject	Genetics Biochemistry Molecular Biology Cancer Research Molecular Medicine Oncology

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