Objective To observe the mutation frequency and the characteristics of rentinitis pigmentosa (RP)1 gene in the Chinese patients with autosomal dominant (AD) RP or sporadic RP (SRP), and to evaluate their potential effects on the pathogenesis of RP. Methods Fifty-five members from 7 Chinese families with ADRP, 30 patients with SRP, and 75 healthy adults were recruited. Polymerase chain reaction (PCR) and direct DNA sequencing were used to detect the sequence mutation in the entire coding region and splice sites of RP1 gene. Univariate analysis and multivariate analysis were used to detect the effect of RP1 gene mutation sites on RP. Results Four coding sequence variants were detected in the codes of 852，872，921 and 939 at the exon 4 of RP1 gene. The R872H alteration, which was found in both ADRP families and patients with SRP, showed positive correlation with RP confirmed by the multivariate logistic regression analysis. The P903L alteration was only found in ADRP families but not in the patients with SRP or the healthy adults. Conclusions The R872H alteration in the RP1 gene is likely to increase the risk of RP, and may be a susceptible gene of RP. Whether the P903L alteration is a diseasecausing factor needs to be further studied.
Objective To determine the association between the geneti c polymorp hisms of vascular endothelial growth factor (VEGF) gene and the prognosis for retinopathy of prematurity (ROP) in Chinese. Methods Twenty infants with threshold ROP who had undergone retinal photocoagulation were in the treated group and 20 infants with self-regressed ROP without any treatment were in the control grou p . In the two groups, all the infants had oxygen-breathing history and the sex a n d gestational age were all suitable to be compared, except birth weight. Polymer ase chains reaction-restriction fragment length polymorphism was used to determine the frequencies of VEGF genes in the two groups. Results The frequencies of +405C allele were higher in the treated group than those in the control group (P＜0.05). The frequencies of the VEGF-460T/C and +936C/T ploymorphisms were similar in both groups (P＞0.05). Conclusions The +4 05C/G ge netic polymorphisms of VEGF may correlate to the prognosis of ROP. The carriers of +405CC allele are more susceptible to ROP.
Objective To investigate the polymorphism of the vitamin D receptor gene (VDR)TaqⅠin relation to diabetic retinopathy. Method Fragment length discrepant allele specific PCR(FLDAS-PCR) were used to determine VDR genetypes in 158 patients with diabetic retinopathy and in 198 normal subjects. Results The frequency distribution of VDR genotypes in diabetic retinopathy patients was 106 (67.1%) in TT, 33(20.9%) in Tt, 19(12.0%) in tt; and in normal persons was 165 (83.3%) in TT, 23(11.6%) in Tt, 10 (5.1%) in tt. There was a significant difference between diabetic retinopathy patients and normal persons in distribution of VDR gene TaqⅠgenotypes(Plt;0.05). Conclusions There is some distribution alterations of VDR gene polymorphism in diabetic retinopathy patients. (Chin J Ocul Fundus Dis, 2006, 22: 94-96)
ObjectiveTo investigate the relationship of the age-related maculopathy susceptibility 2 (ARMS2) A69S polymorphism and polypoidal choroidal vasculopathy (PCV), and to explore the distribution of risk allele in PCV and exudative age-related macular degeneration (wAMD). MethodsThis is a systemic review and meta-analysis. A literature research was performed in Pubmed, Embase, Web of Knowledge, Chinese national Knowledge Infrastructure and Wanfang Medicine Database by the key words of "ARMS2, LOC387715, A69S, rs10490924, age related macular degeneration, polypoidal choroidal vasculopathy, single nucleotide polymorphism". Case-control studies were included, while review, case report, or systemic reviews were excluded. The latest one of multiple articles was included only which published by the same group. The results of individual studies were pooled using the software Review Manager 5.1.4, and the correlation between allele frequencies, genotype and phenotype were analyzed. ResultsA total of 14 articles, consisting 2007 PCV patients, 1308 wAMD patients and 3286 controls were recruited. The pooled odds ratio (OR) in random-effects models for genotype TT versus wild homozygous genotype GG is 5.20 (95% CI: 3.90-6.95). Heterozygous genotype GT mildly increased the risk in affecting PCV, and the OR of GT versus GG is 1.85 (95% CI: 1.42-2.40. The frequency of T allele in wAMD was higher than in PCV, pool OR=1.60 (95% CI: 1.31-1.96). ConclusionsThe ARMS2 A69S variant is associated with PCV. Genotypes of TT and GT had an effect in increasing the risk of PCV, and the effect is even greater in genotype of TT. T allele had an effect in increasing the risk of PCV and wAMD, and the risk for wAMD is slightly greater than for PCV.
Objective To investigate the relationship between diabetic retinopathy (DR) and insertion/deletion (a/b) polymorphism of a 27 base pair variable number tandem repeat (VNTR) in intron 4 of the endothelial nitric oxide synthase (eNOS) gene. Methods 321 patients of type 2 diabetes mellitus with over 10 years duration (case group) and 146 normal subjects (control group) were enrolled in this study. All the clients are Han Chinese. The case group was divided into DR subgroup (154 patients) and non-DR (NDR) subgroup (167 patients) according to the results of indirect ophthalmoscope and fundus fluorescent angiography. The VNTR polymorphism in eNOS gene was determined by polymerase chain reaction (PCR) combined with 8% agarose gel electrophoresis. Then the b, a allele frequency and b/b, a/a, b/a allele frequency of two groups were compared, and its correlation with diseases were analyzed. Results The b allele frequency of the VNTR in intron 4 of eNOS gene in the DR group was significantly higher than that in the NDR group（chi;2=4.745，P=0.029；OR=1.685，95%CI=1.050-3.905）and control group（chi;2=6.958，P=0.008；OR=1.891，95%CI=1.172-4.437）; b/b allele frequency in the DR group was also significantly higher than that in the NDR group（chi;2=4.811，P=0.028；OR=1.790，95%CI=1.060-4.645）and control group（chi;2= 5.203，P=0.023；OR=1.859，95%CI=1.087-4.952）. Conclusions The b allele and b/b genotype in intron 4 of eNOS gene in the Han Chinese are closely related to DR.
Objective To investigate the association of the polymorphism of resistin gene SNP-420C/G and type 2 diabetes (T2DM) among the Chinese Han population. Methods Such databases as CNKI, WanFang database, VIP, SinoMed, and PubMed were electronically searched from January 2001 to July 2010 to collect case-control studies on polymorphism of resistin gene SNP-420C/G and T2DM among the Chinese Han population. The quality of the included studies was evaluated and the data was extracted. RevMan 4.2 software was used for meta-analyses. Results A total of five case-control studies were identified, involving 709 cases in the T2DM group and 572 cases in the control group. The results of meta-analysis showed that the Chinese Han population with CC genotypes of SNP-420 had no higher risks to T2DM (OR=1.02, 95%CI 0.81 to 1.29), and the Chinese Han population with GG genotypes of SNP-420 still had no higher risks to T2DM (OR=1.34, 95%CI 0.95 to 1.90). Conclusion Current evidence suggests that there is no association between the polymorphism of resistin gene SNP-420C/G and risk to T2DM among the Chinese Han population.
Objective To observe the genetic predisposition of complement C5 gene polymorphisms in proliferative diabetic retinopathy (PDR) in Chongqing Han population. Methods 400 type 2 diabetes (T2D) patients (case group) and 600 age- and sex-matched healthy controls (control group) were enrolled in this study. There were 8 PDR patients in case group. All the subjects were Han ethnic people. The immune-related representative SNP locus of C5 gene including rs2269067, rs7040033, rs7027797 were screened by linkage disequilibrium analysis. Locus rs1017119 was selected by TagSNP and was around the above three loci. Subjects′ peripheral venous blood was collected and DNA was extracted. Genotyping was examined by PCR-restriction fragment length polymorphism method. The level of C5 plasma protein was measured by enzyme-linked immunoabsorbent assay. Results The frequency of GG genotype of rs2269067 was significantly increased in PDR patients in cases group compared with controls (Pc=3.4×10-5, OR=1.87, 95%CI=1.43 - 2.44；P=3.1×10-6). There was no differences in frequency of G, CC and CG genotype of rs2269067 between two groups (P=1.4×10-4, 1.000, 1.0×10-6). There were no differences in frequency of G, CC, CG, GG genotype of rs7040033, rs1017119, and rs7027797 between two groups (P > 0.05). The production of C5 plasma protein was significantly increased in case group as compare with control group (P=0.0004). An increased production of C5 plasma protein was observed in rs2269067 GG genotype cases compared to CG or CC cases (P=0.003, 0.001). Conclusion C5 rs2269067 GG genotype may be associated with the PDR of T2D in Chongqing Han population.
ObjectiveTo investigate the relationship between the mannose-binding lectin 2 (MBL2) codon 52 A/D gene polymorphism and tuberculosis risk by meta-analysis. MethodsThe Embase, PubMed, China National Knowledg Infrastructure, Wanfang databases were searched to identify domestic and foreign case-control studies involving the association between MBL2 codon 52 A/D gene polymorphism and tuberculosis risk from establishment of these database till May 20, 2015. Two reviewers collected data according to the inclusion and exclusion criteria, and extracted data and assessed quality of the literature. Meta analysis was performed by RevMan 5.2 software and Stata 10.0 software. ResultsIn total, 1 282 cases and 1 483 controls from nine case-control studies were included in this meta-analysis. According to the test of heterogeneity, there was statistical heterogeneity among these studies (P < 0.1). Thus, we conducted the analysis by the random effect model on the basis of heterogeneity test. The results indicated that MBL2 codon 52 A/D gene polymorphism might not be associated with risk of tuberculosis [DD+AD versus AA: OR=1.46, 95% CI (0.87, 2.43), P=0.15] in total analysis by random effect model. However, when stratifying separately according to ethnicity, a significant association between MBL2 codon 52 A/D gene polymorphism and tuberculosis risk was found in Asians [OR=1.96, 95% CI (1.27, 3.03), P=0.003 for DD+AD versus AA], but not among Caucasians [OR=1.36, 95% CI (0.52, 3.56), P=0.53 for DD+AD versus AA]. Conclusions The present meta-analysis indicates that the polymorphism of MBL2 codon 52 A/D may be a risk factor for TB in Asians. But the MBL2 codon 52 A/D gene polymorphism may not contribute to the risk of tuberculosis in Caucasians.
Objective To systematically review the association between 14 bp insertion/ deletion polymorphism of HLA-G gene and preeclampsia (PE). Methods We electronically searched in the following databases: PubMed, Web of Science, EMbase, CBM, CNKI, WanFang Data, and VIP to collect all the case-control trials on the association between 14 bp insertion/ deletion polymorphism of HLA-G gene and PE. Two reviewers independently screened literature according to the inclusion and exclusion criteria, extracted data and assessed the quality of the included studies. Then, meta-analysis was performed using RevMan 5.1 software. Results Totally 10 studies were recruited. The results of meta-analysis showed that, the preeclampsia group was higher than the control group in the frequencies of HLA-G +14 bp haplotype in the fetus and fathers and the frequencies of HLA-G +14 bp/+14 bp genotype in fathers, but its frequencies of fetal HLA-G −14 bp haplotype was significantly lower. Their pooled OR and 95%CI were 1.42 (1.10 to 1.84), 1.54 (1.25 to 1.90), 2.00 (1.19 to 3.38), and 0.67 (0.54 to 0.82). Compared with the control group, in the preeclampsia group the frequencies of HLA-G +14 bp/+14 bp genotype in fetus were higher, while the frequencies of HLA-G −14 bp/−14 bp genotype were lower (OR=1.75, 95%CI 1.11 to 2.77; OR= 0.57, 95%CI 0.41 to 0.81). In the preeclampsia group, the frequencies of mother (+14 bp/−14 bp)/ fetal (+14 bp/+14 bp) were higher than the control group (OR= 3.77, 95%CI 1.40 to 10.11), while those of mother (−14 bp/−14 bp)/ fetal (−14 bp/−14 bp) and those of father (−14 bp/−14 bp)/fetal (−14 bp/−14 bp) were lower (OR=0.52, 95%IC 0.31 to 0.85; OR=0.33, 95%CI 0.15 to 0.75). Conclusion Paternal and fetal 14 bp insertion/ deletion polymorphism of HLA-G gene might be associated with preeclampsia. And maternal-fetal genotype compatibility analysis might provide new clues for the pathogenesis research and clinical diagnosis of preeclampsia.
ObjectiveTo investigate the association between IL-1β gene-511C/T polymorphisms and the risk of chronic obstructive pulmonary disease (COPD). MethodsSuch databases as PubMed, EMbase, CNKI, CBM, VIP and WanFang Data were searched for the studies on the association between IL-1β gene-511C/T polymorphisms and the risk of COPD up to May 2014. According to inclusion and exclusion criteria, two reviewers independently screened literature, extracted data, and assessed methodological quality of included studies. Then meta-analysis was performed using RevMan 5.0 software. ResultsA total of 10 case-control studies from 9 articles involving 1 171 cases and 1 268 controls were included. The results of meta-analysis showed that, no significant association was found between IL-1β gene-511C/T polymorphisms and the risk of COPD:TT+CT vs. CC:OR=1.06, 95%CI 0.66 to 1.70, P=0.82; TT vs. CT+CC:OR=0.87, 95%CI 0.60 to 1.26, P=0.32; TT vs. CC:OR=0.95, 95%CI 0.51 to 1.75, P=0.86; CT vs. CC:OR=1.10, 95%CI 0.71 to 1.70, P=0.15; T vs. C:OR=0.97, 95%CI=0.72 to 1.30, P=0.84. The results of subgroup analysis by ethnicity showed that, no significant association was found between IL-1β gene-511C/T polymorphisms and the risk of COPD among Caucasians and Asians. ConclusionIL-1β gene-511C/T polymorphisms might not contribute to the risk of COPD.