Association of IL-6 Gene (-174 and -572 G/C) Polymorphisms with Proliferative Diabetic Retinopathy of Type 2 Diabetes in a Chinese Population.

PURPOSE: To investigate the association of interleukin (IL)-6 with proliferative diabetic retinopathy (PDR) of type 2 diabetes (T2D) in a Chinese population. METHODS: Two subtypes of the IL-6 promoter (-174 and -572 G/C) were genotyped in 215 T2D patients with PDR and 207 T2D patients with a normal retinal function (controls) using the PCR-RFLP method. The mRNA and protein expression of IL-6 was examined by real-time PCR. RESULTS: T2D patients with PDR had a significantly higher frequency of IL-6 -174 GC (OR 0.58; 95% CI 0.34-0.99; p = 0.011) and IL-6 -572 GG (OR 0.53; 95% CI 0.24-1.14; p = 0.016) than T2D controls. The mRNA expressions of the rs1800795 GC and rs1800796 GG genotype were significantly increased compared to other cases (Fsig = 0.002, p = 0.001, respectively), followed by a relative increase in IL-6 in protein. CONCLUSIONS: IL-6 genotypes of rs1800795 GC and rs1800796 GG might point to a relatively high risk for T2D patients suffering from PDR in a Chinese population and they were associated with elevation of IL-6 expression in both mRNA and protein.

The Association between Smoking and Epiretinal Membrane.

We conducted a meta-analysis of analytic and observational studies to evaluate the association between smoking and epiretinal membrane (ERM). The pertinent studies were identified via a literature search using three databases (MEDLINE, Cochrane Library, Embase) and the reference lists of retrieved studies. Cohort, case-control and cross-sectional studies meeting the predefined criteria were included. We extracted the odds ratios (OR) and 95% confidence intervals (CI) from each study. Overall risk estimates were pooled using random-effects models. Subgroup analyses based on several stratified factors were also performed. Two cohort studies and six cross-sectional studies involving 46,837 subjects were included. The pooled effect of all eight studies showed an unexpected significant decreased association between smoking and the occurrence of ERM (OR, 0.72; 95% CI 0.61-0.84; p = 0.29, I2 = 17.9%). Subgroup analyses supported this finding, except for the age-unadjusted group (OR, 0.87; 95% CI 0.63-1.22), the ERM classification group (cellophane macular reflex (CMR) OR, 0.93; 95% CI 0.68-1.28; preretinal macular fibrosis (PMF) OR, 0.74; 95% CI 0.41-1.32), the Asian group (OR, 0.75; 95% CI 0.52-1.09) and the past smoker group (OR, 1.02; 95% CI 0.85-1.22). The pooled effects from the current literature suggested a declining association between smoking and ERM, which requires further studies to confirm.

A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.

AIM: To identify the disease-causing gene mutation in a Chinese pedigree with autosomal dominant cone-rod dystrophy (adCORD). METHODS: A southern Chinese adCORD pedigree including 9 affected individuals was studied. Whole-exome sequencing (WES), coupling the Agilent whole-exome capture system to the Illumina HiSeq 2000 DNA sequencing platform was used to search the specific gene mutation in 3 affected family members and 1 unaffected member. After a suggested variant was found through the data analysis, the putative mutation was validated by Sanger DNA sequencing of samples from all available family members. RESULTS: The results of both WES and Sanger sequencing revealed a novel nonsense mutation c.C766T (p.Q256X) within exon 5 of CRX gene which was pathogenic for adCORD in this family. The mutation could affect photoreceptor-specific gene expression with a dominant-negative effect and resulted in loss of the OTX tail, thus the mutant protein occupies the CRX-binding site in target promoters without establishing an interaction and, consequently, may block transactivation. CONCLUSION: All modes of Mendelian inheritance in CORD have been observed, and genetic heterogeneity is a hallmark of CORD. Therefore, conventional genetic diagnosis of CORD would be time-consuming and labor-intensive. Our study indicated the robustness and cost-effectiveness of WES in the genetic diagnosis of CORD.

[The visual functional therapeutic effects of deep lamellar keratoplasty and penetrating keratoplasty for fungal corneal ulcer].

OBJECTIVE: To investigate the visual functional therapeutic effects of deep lamellar keratoplasty (DLK) and penetrating keratoplasty (PK) on perforated fungal keratitis. METHODS: 64 patients (64 eyes) of fungal corneal ulcer in Ophthalmology Center of Ningbo Yinzhou People Hospital from 2004 to 2009 were retrospected, of which undergo DLK (36 patients, 36 eyes) and PK (28 patients, 28 eyes), and followed up by 12 to 24 months. Check two sets of patients' VA and refraction before operation, and analyze the best-corrected visual acuity (BCVA), corneal refraction changes, corneal endothelium counting and complications, using χ(2) test and t-test. RESULTS: The BCVA after the operation of two sets are both improved, 32 eyes of DLK set were above 0.4, 19 eyes of PK set were above 0.4, of which the DKL set is a bit better than PK set (χ(2) = 4.304, P > 0.05). The astigmatism of DLK set is smaller than the PK set after operation, and there is significant difference (χ(2) = 4.98, P < 0.05). The astigmatism of two sets on the average were all no more than 5.00 D. The reject reaction of keratoplasty of DLK is less than PK, there is obviously significant difference (χ(2) = 34.17, P < 0.05). CONCLUSIONS: There is less complications of DLK than PK for fungal corneal ulcer. DLK can reduce the occurrence of reject reaction of endothelium type, and the BCVA, refraction of DLK after operation is similar to PK, the incidence rate of surgical operation failure is low.