Detection and prenatal diagnosis for RS1 gene mutations in two Chinese families with X-linked juvenile retinoschisis

Abstract

To assess the association between 1019C/T polymorphism of Connexin 37 (CX37) gene and susceptibility to restenosis after percutaneous coronary intervention (PCI) in ethnic Han Chinese patients from Wuxi. Five hundred and thirty-two patients with coronary artery disease (CAD) who had undergone PCI underwent coronary angiography (CAG) in 3 months, and were divided into in stent restenosis (ISR) group (n=67) and no instent restenosis (NISR) group (n=465). Five hundred and one healthy individuals have served as the control group. All cases were genotyped with DNA sequencing. Compared with healthy controls, the frequency of CX37 C allele was higher in CAD patients (57.05% vs. 41.32%, P< 0.01). The frequency of C carries (CC+TC) was 79.32% in CAD patients, against 65.47% in healthy controls (P<0.01). The risk for CAD was significantly increased in carriers of C allele (CC+TC) compared with TT homozygotes (OR=2.03, 95% CI: 1.53-2.80). Stratified analysis has indicated a significant difference in the frequency of C allele carriers between both male and female CAD patients and healthy controls (79.63% vs. 72.45%, P=0.02; 78.00% vs. 51.50%, P< 0.01). For both genders, carriers of C allele had a higher risk for CAD compared with TT homozygotes (males: OR=1.48, 95% CI: 1.06-2.09; females: OR=3.34, 95% CI: 1.90-5.86). Compared with NISR group, the frequency of CX37 C allele and C carries (CC+TC) were significantly higher in ISR group (72.39% vs. 54.84%, P< 0.01; 89.55% vs. 77.85%, P=0.027). Compared with TT homozygotes, the risk for restenosis has significantly increased in carriers of C allele (CC+TC) (OR=2.44, 95% CI: 1.08-5.50). Stratified analysis also suggested that the frequency of C carriers was significantly higher in male ISR group compared with male NISR group (92. 86% vs. 77.66%, P=0.008). The risk for restenosis has increased by nearly four fold in carriers of C allele (CC+TC) compared with TT homozygotes (95% CI: 1.32-10.64). However, for female patients, no significant difference was detected in the ISR risk between carriers of CC+TC type and TT homozygotes (P=0.655). The C allele of 1019C/T polymorphism in the CX37 gene is associated with susceptibility to CAD as well as restenosis after coronary stenting in male patients from Wuxi.