Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus

Xiaowei Zhou,1,&ast; Weichang Guo,2,&ast; Hejia Yin,1 Jie Chen,1 Liju Ma,3 Qiuping Yang,4 Yan Zhao,1 Shaoyou Li,5 Weijun Liu,1 Huifang Li1 1Department of Diabetes, The First Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China; 2Department of Physical Educat...

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Autores principales:	Zhou X, Guo W, Yin H, Chen J, Ma L, Yang Q, Zhao Y, Li S, Liu W, Li H
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2021
Materias:	type 2 diabetes gene mutation whole exome sequencing pnliprp1 camkk2 Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/aa9e082dc7b94d2a83efaf86ab2da3ba
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spelling	oai:doaj.org-article:aa9e082dc7b94d2a83efaf86ab2da3ba2021-11-16T18:47:50ZWhole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus1178-7074https://doaj.org/article/aa9e082dc7b94d2a83efaf86ab2da3ba2021-11-01T00:00:00Zhttps://www.dovepress.com/whole-exome-sequencing-study-in-a-family-with-type-2-diabetes-mellitus-peer-reviewed-fulltext-article-IJGMhttps://doaj.org/toc/1178-7074Xiaowei Zhou,1,&ast; Weichang Guo,2,&ast; Hejia Yin,1 Jie Chen,1 Liju Ma,3 Qiuping Yang,4 Yan Zhao,1 Shaoyou Li,5 Weijun Liu,1 Huifang Li1 1Department of Diabetes, The First Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China; 2Department of Physical Education, Kunming Medical University, Kunming, People’s Republic of China; 3Department of Clinical Laboratory, First Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China; 4Department of Geriatrics, The First Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China; 5Department of NHC Key Laboratory of Drug Addiction Medicine, The First Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China&ast;These authors contributed equally to this workCorrespondence: Huifang LiDepartment of Diabetes, The First Affiliated Hospital of Kunming Medical University, No. 295 Xichang Road, Wuhua District, Kunming, 650032, People’s Republic of ChinaEmail lhfkm2003041@protonmail.comBackground: Type 2 diabetes mellitus (T2DM) is characterized by β cell decline in the pancreas and insulin resistance. This study aimed to investigate the possible pathogenic gene mutation sites of T2DM patients using whole exome sequencing.Materials and Methods: We recruited a Chinese family with 3-generation history of diabetes. The whole blood genomic DNA of seven members of the family was extracted and sent for whole exome sequencing. Biological information was analyzed with in silico prediction methods, including significance analysis of single nucleotide polymorphism (SNP)/Indel site, and analysis of specific SNP/Indel proteins and their potential mechanisms.Results: Six out of seven members of the family were diagnosed with diabetes. All DNA samples (23 kb) met quality requirements of library construction. Clean reads of each sample demonstrated high Q20 and Q30 (> 80%), indicating good sequencing quality of sequencing data. A total of 130,693 SNPs and 15,928 Indels were found in DNA samples. A total of 22 significant SNPs and Indel mutation sites located on 19 genes were obtained, including ZCCHC3, SYN2, RPL14, SRRD, AMD1, CAMKK2, ZNF787, RNF157, NPIPB15, ALG3, KIAA0040, MAST2, ESRRA, C8orf58, PNLIPRP1, DACH1, MACC1, CAPN9 and DMKN. An rs2305205 mutation of PNLIPRP1 gene and an rs778701848 mutation of CAMKK2 gene may be associated with the pathogenesis of T2DM in this family.Conclusion: Exons of these diabetic patients demonstrated an rs2305205 mutation in PNLIPRP1 gene and an rs778701848 mutation in CAMKK2 gene. These two mutations might promote T2DM occurrence through reducing sensitivity of peripheral tissue to insulin and reducing insulin secretion.Keywords: type 2 diabetes, gene mutation, whole exome sequencing, PNLIPRP1, CAMKK2Zhou XGuo WYin HChen JMa LYang QZhao YLi SLiu WLi HDove Medical Pressarticletype 2 diabetesgene mutationwhole exome sequencingpnliprp1camkk2Medicine (General)R5-920ENInternational Journal of General Medicine, Vol Volume 14, Pp 8217-8229 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	type 2 diabetes gene mutation whole exome sequencing pnliprp1 camkk2 Medicine (General) R5-920
spellingShingle	type 2 diabetes gene mutation whole exome sequencing pnliprp1 camkk2 Medicine (General) R5-920 Zhou X Guo W Yin H Chen J Ma L Yang Q Zhao Y Li S Liu W Li H Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus
description	Xiaowei Zhou,1,&ast; Weichang Guo,2,&ast; Hejia Yin,1 Jie Chen,1 Liju Ma,3 Qiuping Yang,4 Yan Zhao,1 Shaoyou Li,5 Weijun Liu,1 Huifang Li1 1Department of Diabetes, The First Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China; 2Department of Physical Education, Kunming Medical University, Kunming, People’s Republic of China; 3Department of Clinical Laboratory, First Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China; 4Department of Geriatrics, The First Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China; 5Department of NHC Key Laboratory of Drug Addiction Medicine, The First Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China&ast;These authors contributed equally to this workCorrespondence: Huifang LiDepartment of Diabetes, The First Affiliated Hospital of Kunming Medical University, No. 295 Xichang Road, Wuhua District, Kunming, 650032, People’s Republic of ChinaEmail lhfkm2003041@protonmail.comBackground: Type 2 diabetes mellitus (T2DM) is characterized by β cell decline in the pancreas and insulin resistance. This study aimed to investigate the possible pathogenic gene mutation sites of T2DM patients using whole exome sequencing.Materials and Methods: We recruited a Chinese family with 3-generation history of diabetes. The whole blood genomic DNA of seven members of the family was extracted and sent for whole exome sequencing. Biological information was analyzed with in silico prediction methods, including significance analysis of single nucleotide polymorphism (SNP)/Indel site, and analysis of specific SNP/Indel proteins and their potential mechanisms.Results: Six out of seven members of the family were diagnosed with diabetes. All DNA samples (23 kb) met quality requirements of library construction. Clean reads of each sample demonstrated high Q20 and Q30 (> 80%), indicating good sequencing quality of sequencing data. A total of 130,693 SNPs and 15,928 Indels were found in DNA samples. A total of 22 significant SNPs and Indel mutation sites located on 19 genes were obtained, including ZCCHC3, SYN2, RPL14, SRRD, AMD1, CAMKK2, ZNF787, RNF157, NPIPB15, ALG3, KIAA0040, MAST2, ESRRA, C8orf58, PNLIPRP1, DACH1, MACC1, CAPN9 and DMKN. An rs2305205 mutation of PNLIPRP1 gene and an rs778701848 mutation of CAMKK2 gene may be associated with the pathogenesis of T2DM in this family.Conclusion: Exons of these diabetic patients demonstrated an rs2305205 mutation in PNLIPRP1 gene and an rs778701848 mutation in CAMKK2 gene. These two mutations might promote T2DM occurrence through reducing sensitivity of peripheral tissue to insulin and reducing insulin secretion.Keywords: type 2 diabetes, gene mutation, whole exome sequencing, PNLIPRP1, CAMKK2
format	article
author	Zhou X Guo W Yin H Chen J Ma L Yang Q Zhao Y Li S Liu W Li H
author_facet	Zhou X Guo W Yin H Chen J Ma L Yang Q Zhao Y Li S Liu W Li H
author_sort	Zhou X
title	Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus
title_short	Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus
title_full	Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus
title_fullStr	Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus
title_full_unstemmed	Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus
title_sort	whole exome sequencing study in a family with type 2 diabetes mellitus
publisher	Dove Medical Press
publishDate	2021
url	https://doaj.org/article/aa9e082dc7b94d2a83efaf86ab2da3ba
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Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus

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