Correlations among SUNDS, Arrhythmia and Variants in NUP155
- VernacularTitle:NUP155基因突变与不明原因夜间猝死综合征及心律失常的关联性
- Author:
Han REN
1
;
Er-wen HUANG
1
;
Jing-jing ZHENG
1
;
Jian-ding CHENG
1
;
Hong-yu SUN
1
Author Information
1. Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China; Guangdong Province Translational Forensic Medicine Engineering Technology Research Center, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China
- Publication Type:Journal Article
- Keywords:
NUP155;
sudden unexplained nocturnal death syndrome;
arrhythmia;
forensic pathology
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2020;41(3):370-378
- CountryChina
- Language:Chinese
-
Abstract:
【Objective】 To investigate NUP155 gene variants in the cases of sudden unexplained nocturnal death syndrome(SUNDS) and arrhythmia in the Chinese Han population, and to analyze the correlations between SUNDS, arrhythmia and NUP155 gene variants. 【Methods】 The SUNDS group and clinical group comprised 40 sporadic cases of SUNDS and 30 clinical cases of arrhythmia, respectively. The East Asian population data in 1000 Genomes database and ExAC database were used as the population control group. DNA microarray sequencing and Sanger sequencing were used to screen variants in NUP155 of 70 cases, and the associations between SUNDS, arrhythmia and variants in NUP155 was analyzed by Pearson chi-square test or Fisher's exact test(P < 0.05) . 【Results】 Four non-synonymous mutations (NUP155 c.4051A > G, p.N1351D, NUP155 c.2995-3012delCCTGGTCCTCCAGTGTTG , p.P999-L1004del, NUP155 c.485G > T, p.162R > L, NUP155 c.485G > A, p.162R > Q) were detected. NUP155 c.2995-3012delCCTGGTCCTCCAGTGTTG, p.P999-L1004del and NUP155 c.485G > T, p.R162L were newly found. There was a statistically significant difference(P < 0.05) in the composition ratio of the 4051st base of NUP155 cDNA between SUNDS samples and ExAC database of East Asian population, and a statistically significant difference(P < 0.05) in the composition ratio of the 485th base of NUP155 cDNA between the arrhythmia sample and ExAC database of East Asian population. A synonymous mutation(NUP155 c.516C > T), an intron-located mutation, and six intron polymorphism sites were also selected. 【Conclusions】 Variants in NUP155 do exist in cases of SUNDS and arrhythmia in Chinese Han population, and mutations of NUP155 are associated with SUNDS and arrhythmia.
