Association of a Tandem Repeat Polymorphism in NFATc1 with Increased Risk of Perimembranous Ventricular Septal Defect in a Chinese Population

2011 ◽  
Vol 49 (9-10) ◽  
pp. 592-600 ◽  
Author(s):  
Haiyong Gu ◽  
Jie Gong ◽  
Wanshan Qiu ◽  
HaiLong Cao ◽  
Jing Xu ◽  
...  
2015 ◽  
Vol 26 (2) ◽  
pp. 237-243 ◽  
Author(s):  
Danyan Zhang ◽  
Mingfu Ma ◽  
Yuyou Yang ◽  
Ling Wan ◽  
Zhixi Yang ◽  
...  

AbstractBackgroundIL-27, a member of the IL-12 family, has been involved in maternal tolerance to the foetus and successful pregnancy. Growing evidences indicate that IL-27 plays a crucial role in pregnancy.AimWe carried out the present study in order to investigate whether polymorphisms in theIL27are associated with the risk for CHDs, including atrial septal defect and ventricular septal defect.Patients and methodsWe conducted this case–control study among 247 atrial septal defect patients, 150 ventricular septal defect patients, and 368 healthy controls in a Chinese population using polymerase chain reaction-restriction fragment length polymorphism assay.ResultsSignificantly increased risk for atrial septal defect (p=0.001, OR=1.490, 95% CI=1.178–1.887) and ventricular septal defect (p=0.004, OR=1.502, 95% CI=1.139–1.976) was observed to be associated with the allele G of rs153109. In a dominant model, we have also observed that increased susceptibilities for atrial septal defect (p<0.01, OR=1.89, 95% CI=1.35–2.63) and ventricular septal defect (p<0.01, OR=2.50, 95% CI=1.67–3.85) were statistically associated with rs153109; however, no association was found between CHD risk and rs17855750 in theIL27gene.ConclusionThe 153109 of theIL27gene may be associated with the susceptibility to CHD, including atrial septal defect and ventricular septal defect.


2019 ◽  
Vol 49 (7) ◽  
pp. 620-627
Author(s):  
Mingliang Ji ◽  
Xiaohua Shi ◽  
Yang Xiang ◽  
Quancai Cui ◽  
Jun Zhao

Abstract Objective Recurrent hydatidiform moles are reportedly biparental complete moles and related to mutated NLRP7 and KHDC3L. This study was designed to identify mutations of gene NLRP7 and KHDC3L in biparental complete moles. Methods In this study, we have screened NLRP7 and KHDC3L mutations in five patients with recurrent moles and five with sporadic moles. Molar tissues and blood samples were collected from patients and their partners. Genotypes of the molar tissues were determined based on short tandem repeat polymorphism. The coding exons of NLRP7 and KHDC3L were sequenced. Results Two patients with recurrent moles had biparental complete moles, while all other patients had androgenetic complete moles. Three non-synonymous variants in NLRP7 (c.955 G>A, c.1280 T>C and c.1441 G>A) and one in KHDC3L (c.602 C>G) were identified in patients with recurrent moles. NLRP7 c.1441 G>A and c.1280 T>C were mutations found in the Chinese population, while c.1441 G>A was only detected in patients with biparental complete moles in this study. Conclusions Genotyping can be used to differentiate biparental complete moles from androgenetic moles and to predict the risk of recurrent moles in future pregnancies. NLRP7 c.1441 G>A may associate with biparental complete moles. Biparental complete moles exhibit genetic heterogeneity.


2015 ◽  
Vol 36 (7) ◽  
pp. 1476-1482 ◽  
Author(s):  
Xiang-Ting Li ◽  
Chang-Qing Shen ◽  
Rui Zhang ◽  
Ji-Kui Shi ◽  
Zong-Hong Li ◽  
...  

2021 ◽  
pp. 1-4
Author(s):  
Ming Chern Leong ◽  
Mazeni Alwi

Abstract Device occlusion of perimembranous ventricular septal defect is gaining popularity with the emergence of newer, softer occluders and improved technical know-how. We report a 26-year-old lady with a moderate size perimembranous ventricular septal defect who had a new onset of bundle branch block shortly after device closure. The patient subsequently developed a complete atrio-ventricular heart block.


2012 ◽  
Vol 60 (17) ◽  
pp. B225
Author(s):  
Apostolos Tzikas ◽  
Daniel Aguirre ◽  
Daniel Velasco-Sanchez ◽  
Xavier Freixa ◽  
Marcela Alburquenque ◽  
...  

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