Identification of sequence polymorphisms in the displacement loop region of mitochondrial DNA as a risk factor for gastroenteropancreatic neuroendocrine neoplasm
机构：[1]Department of Endoscopy, The Fourth Hospital of Hebei Medical University, Shijiazhuang, China医技科室内镜科河北医科大学第四医院[2]The Third Department of Surgery, The Fourth Hospital of Hebei Medical University, Shijiazhuang, China临床科室外三科河北医科大学第四医院
BackgroundGastroenteropancreatic neuroendocrine neoplasms (GEP-NEN) are relatively rare tumors that arise from the diffuse neuroendocrine system, and the biggest advances in molecular biology have helped in understanding these biological diversity of tumors over the past decades. It is important to determine the carcinogenesis of GEP-NEN from the perspective of genetic backgrounds. MethodsMitochondrial DNA (mtDNA) of peripheral blood from 66 GEP-NEN patients and from 75 healthy controls without history of any cancer were examined for single nucleotide polymorphisms (SNPs) and mutations in the displacement loop (D-loop) region. ResultsSingle nucleotide polymorphisms were detected in 148 sites within the 982bp mitochondria D-loop region from blood samples of healthy controls and GEP-NEN patients. SNPs with a rare allele frequency >5% in either controls or GEP-NEN patients were used for cancer risk analysis; a total of 23 SNPs were selected. When individual SNPs of GEP-NEN patients compared with healthy controls were analyzed, a statistically significant increase in the SNP frequency was observed for 73G, 150T, 151T, 492C, 16257A, 16261T, and 16399G in GEP-NEN patients (P<.05). It was also observed that the SNP frequency for 489C and 16519C significantly decreased in GEP-NEN patients compared with controls (P<.05). ConclusionIn summary, SNPs in the mutations of the mitochondrial D-loop may be valuable markers for GEP-NEN risk evaluation. Analysis of the genetic polymorphisms in the D-loop may be useful for diagnosis of high-risk individuals.
基金：
Key medical Research Program of Hebei,
Grant/Award Number: 20160620
第一作者机构：[1]Department of Endoscopy, The Fourth Hospital of Hebei Medical University, Shijiazhuang, China
共同第一作者：
通讯作者：
通讯机构：[2]The Third Department of Surgery, The Fourth Hospital of Hebei Medical University, Shijiazhuang, China[*1]Department of General Surgery, The Fourth Hospital, Hebei Medical University, Shijiazhuang, China.
推荐引用方式(GB/T 7714)：
Er Li-Mian,Wu Ming-Li,Gao Yang,et al.Identification of sequence polymorphisms in the displacement loop region of mitochondrial DNA as a risk factor for gastroenteropancreatic neuroendocrine neoplasm[J].JOURNAL OF CLINICAL LABORATORY ANALYSIS.2017,31(5):doi:10.1002/jcla.22078.
APA：
Er, Li-Mian,Wu, Ming-Li,Gao, Yang,Wang, Shi-Jie&Li, Yong.(2017).Identification of sequence polymorphisms in the displacement loop region of mitochondrial DNA as a risk factor for gastroenteropancreatic neuroendocrine neoplasm.JOURNAL OF CLINICAL LABORATORY ANALYSIS,31,(5)
MLA：
Er, Li-Mian,et al."Identification of sequence polymorphisms in the displacement loop region of mitochondrial DNA as a risk factor for gastroenteropancreatic neuroendocrine neoplasm".JOURNAL OF CLINICAL LABORATORY ANALYSIS 31..5(2017)
