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.
ObjectiveTo investigate the association of high density lipoprotein cholesterol (HDL-C) and cholesterol ester transfer protein (CETP) TaqIB mutation with non-arteritic anterior ischemic optic neuropathy (NA-AION) in the Shaanxi Han ethnic population. MethodsThe study cohort consisted of 45 individuals that had been diagnosed with NA-AION and 45 healthy controls (matched for age, gender). None of the cases or controls had a history of diabetes, serious cardio-cerebral vascular diseases, liver and kidney dysfunction that might influence plasma lipid levels. Plasma HDL-C was detected by enzyme-linked immunosorbent one-step, through the Toshiba TBA-40FR automatic biochemical analyzer. CETP TaqIB gene polymorphism was determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques for analysis. B2B2 genotype was only a fluorescence band with 535 bp; B1B1 genotype was 2 fluorescence bands with 361, 174 bp; B1B2 genotype was 3 fluorescence bands with 535, 361, 174 bp. The relative risk of genotype, HDL-C and disease occurrence was analyzed by logistics regression analysis. ResultsThere have no significant difference between NA-AION patients and controls about plasma total cholesterol level and triglyceride level (t=1.907, 1.877; P > 0.05). The plasma HDL-C levels were significantly lower in NA-AION patients than in controls (t=2.367, P=0.022). Compared with controls, the prevalence of B1B1 genotype and B1 allele was higher (χ2=17.289, P=0.001), the prevalence of B2 allele (χ2=15.648, P=0.000) was lower in NA-AION patients. The lower concentration of HDL-C was risk factor of NA-AION (odds ratio=6.143, 95% confidence interval 1.262-29.895, χ2=27.676;P=0.013). The proportion of B1B1 genotype was significantly higher in NA-AION patients than in controls (odds ratio=2.24, 95% confidence interval 2.427-36.323, χ2=10.526; P=0.001). ConclusionsThe low plasma HDL-C is independent risk factor for NA-AION and is associated with the development of NA-AION in the Shaanxi Han ethnic population. CETP TaqIB mutation is associated with low plasma HDL-C in NA-AION in the Shaanxi Han ethnic population.
Objective To systematically review the association between ALDH2 polymorphism and ischemic stroke. Methods Web of Science, PubMed, CNKI, CBM and WanFang data were searched to collect case-control studies about the association between ALDH2 polymorphism and ischemic stroke from the inception to October 2016. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Then meta-analysis was performed by using Stata 12.0 software. Results A total of seven case-control studies were included. The results of meta-analysis showed that the A allele and AA genotype in ALDH2 was associated with the risk of ischemic stroke (Avs. G: OR=1.430, 95%CI 1.006 to 2.033,P=0.046; AAvs. AG+GG: OR=1.734, 95%CI 1.267 to 2.373,P=0.001; AAvs. GG: OR=1.757, 95%CI 1.274 to 2.424,P=0.001). Conclusion ALDH2 gene polymorphism may related to ischemic stroke for Chinese and A allele of ALDH2 may be the risk factors.
ObjectiveTo systematically evaluate the correlation between type-2 diabetes mellitus (T2DM) and T/C polymorphism in 190 locus ofβ3-adrenergic receptor (β3-AR) gene in Chinese population. MethodsThe following databases such as CNKI, VIP, CBM, PubMed, EMbase, the Cochrane Library (Issue 8, 2012) and WanFang Data were searched to collect case-control studies on the correlation between T2DM and T/C polymorphism in 190 locus of β3-AR gene. The retrieval time was from October 1980 to October 2013. Two reviewers independently screened the literature according to the inclusion and exclusion criteria, extracted the data and assessed the quality. Then the meta-analysis was conducted by using RevMan 5.0 and Stata 12.0 software, and the publication bias was analyzed by means of Egger's linear regression. ResultsA total of 11 studies involving 1 602 T2DM patients and 1 773 healthy volunteers were included. The results of meta-analyses showed that, for Chinese population, TC genotype in case group was more than that in control group[OR=1.19, 95%CI (1.01, 1.40), P=0.04]. CC+TC genotype in case group was more than that in control group[OR=1.23, 95%CI (1.05, 1.45), P=0.01]. Allele C in case group was more than that in control group[OR=1.24, 95%CI (1.08, 1.43), P=0.003]. ConclusionsThe allele C in 190 locus of β3-AR gene in Chinese population is significantly associated with T2DM. For the quantity and quality limitation of the included studies, this conclusion has to be further proved by more studies.
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.
Objectives To evaluate the relationships between the Scavenger Receptor Class B1 (SCARB1) polymorphisms and susceptibility of cardiovascular diseases (CVDs). Methods Databases including PubMed, Web of Science, CNKI, WanFang Data and VIP were searched from inception to December 31st 2017 to collect case-control studies on relationships between Scavenger Receptor Class B1 (SCARB1) polymorphisms and susceptibility of CVDs. Paper screening, data extraction and assessment of risk of bias were carried out. Meta-analysis was then conducted by Stata 12.0 software. Results In total, 12 studies relevant to SCARB1 rs5888C/T, rs4238001 G/A and rs10846744 G/C polymorphisms were included. Meta-analysis showed that there was no significant association between the rs5888 C/T polymorphism and susceptibility of CVDs (C vs. T: OR=0.97, 95%CI 0.86 to 1.09, P=0.627), neither for the rs4238001 G/A (G vs. A: OR=0.87, 95%CI 0.64 to 1.17, P=0.344). However, the rs10846744 G/C polymorphism was significantly associated with CVDs risk (G vs. C: OR=1.30, 95%CI 1.11 to 1.52, P=0.001). Subgroup analysis showed that, for non-Asian subjects, there was a significant association between the rs5888 C/T polymorphism and susceptibility of CVDs (C vs. T: OR=0.82, 95% CI 0.68 to 0.99, P=0.040). Conclusions SCARB1 rs10864744 G/C polymorphism could be associated with risk of CVDs. Considering the quantity and quality limitation of the included studies, the conclusion has to be verified by more large-scale high quality studies.
ObjectiveTo systematically evaluate the relationship between the-2548G/A polymorphism in the leptin gene and antipsychotic-induced weight gain (AIWG). MethodsLiterature for the relationship between the-2548G/A polymorphism in the leptin gene and AIWG was retrieved in electronic databases including PubMed, EMbase, CNKI and WanFang Data from establishment dates to June, 2013. Two reviewers independently screened studies according to the inclusion and exclusion criteria, extracted data and evaluated the methodological quality of the included studies. Then meta-analysis was performed using RevMan 5.2 software. ResultsA total of 7 case-control studies were included, involving 404 AIWG cases and 508 controls (patients with no significant changes of weight after taking antipsychotic drugs). The results of meta-analysis showed that, regarding the total population, the-2548G/A polymorphism of the leptin gene was not associated with AIWG (OR=1.16, 95%CI 0.70 to 1.93, P=0.57). After stratification analysis, according to Chinese or non-Chinese origin, the results showed that significant association was found between the-2548G/A polymorphism of leptin gene and AIWG for Chinese (OR=2.15, 95%CI 1.41 to 3.26, P=0.000 4) but not for non-Chinese (OR=0.69, 95%CI 0.45 to 1.07, P=0.10). ConclusionThe current evidence suggests that the-2548G/A polymorphism in the leptin gene is associated with increased risk of AIWG for Chinese. Due to limited quantity of the included studies, the aforementioned conclusion needs to be further validate by more high-quality and large-scale studies.
ObjectiveTo explore the correlation between -765G/C polymorphism of cyclooxygenase-2 (COX-2) gene and the risk of ischemic stroke (IS). MethodsPubMed, CBM, The Cochrane Library (Issue 3, 2015), CNKI, CBM, VIP and WanFang Data were searched from inception to March 2015 to collect case-control or nested case-control studies about -765G/C polymorphism of COX-2 gene and the risk of IS. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Then, meta-analysis was performed using RevMan 5.1 software and Stata 12.0 software. ResultsA total of 10 studies involving 2611 cases and 18589 controls were included. The results of meta-analysis showed that, there was no correlation between -765G/C polymorphism and the risk of IS (GC+CC vs. GG: OR=1.05, 95%CI 0.88 to 1.25, P=0.620; CC vs. GG+GC: OR=1.04, 95%CI 0.83 to 1.30, P=0.730; GC vs. GG: OR=1.04, 95%CI 0.87 to 1.25, P=0.630; CC vs. GG: OR=1.09, 95%CI 0.86 to 1.36, P=0.480; C vs. G: OR=1.03, 95%CI 0.89 to 1.20, P=0.700). Subgroup analysis results showed that, the COX-2 gene -765G/C polymorphism was a risk factor for IS in African-Americans (GC+CC vs. GG: OR=1.42, 95%CI 1.12 to 1.78, P=0.003; GC vs. GG: OR=1.39, 95%CI 1.09 to 1.78, P=0.008; CC vs. GG: OR=1.51, 95%CI 1.04 to 2.18, P=0.030; C vs. G: OR=1.27, 95%CI 1.08 to 1.51, P=0.004), but not in Asians and Caucasians. ConclusionCurrent evidence shows that -765G/C polymorphism of COX-2 gene may be a genetic risk factor for IS in African-Americans, but not in Asians and Caucasians. Due to the limited quantity and quality of the included studies, more high quality studies are needed to verify the above conclusion.
Objective To evaluate the association between the Thr241Met polymorphism in the XRCC3 gene and the risk of lung cancer in Chinese population by meta-analysis. Methods Databases including PubMed, EMbase, CNKI, VIP and WanFang Data were searched to identify domestic and foreign case-control studies concerning the association between Thr241Met polymorphism in XRCC3 gene and the risk of lung cancer in Chinese population from the inception to August 20th, 2013. Two reviewers independently screened the literature according to the inclusion and exclusion criteria, extracted data and assessed quality. Then meta-analysis was performed using RevMan 5.0 software and Stata 10.0 software. Results A total of 5 case-control studies involved 2 999 lung cancer cases and 2 994 controls were included. The results of meta-analysis showed that, Chinese population who carry the variant genotype or allele had no increased risk of lung cancer: Met/Met vs. Thr/Thr: OR=1.00, 95%CI (0.38, 2.59), P=0.99; Met/Met vs. Thr/Met: OR=1.06, 95%CI (0.83, 1.36), P=0.63; Met/Met vs. Thr/Met+Thr/Thr: OR=0.99, 95%CI (0.38, 2.57), P=0.98; Thr/Met+Met/Met vs. Thr/Thr: OR=1.06, 95%CI (0.82, 1.37), P=0.65; Met vs. Thr: OR=1.05, 95%CI (0.82, 1.35), P=0.68. Conclusion Currently, Thr241Met polymorphism in the XRCC3 gene is not found to be associated with the risk of lung cancer in Chinese population. Considering the limited quality of the included case-control studies, more high quality studies with large sample size are needed to verify the above conclusion.
Objective To observe the effect of gene expression of p53 and the polymorphism of p53 gene codon 72 on cl inical phenotype of keloids. Methods The tissue and blood samples were taken from 35 patients with keloids, 19 males and 16 females, and the course of disease was from 4 months to 8 years. Meanwhile, autologous peripheral blood was collected for genotype analysis. According to the observing scope, the tissue samples of the keloids were divided into 2 groups: the central group involving the central part of the keloids (the central area within two-thirds of the radius) and the peripheral group involving the peripheral part of the keloids (the peripheral area within one-third of the radius). According to the largest diameter of the keloids, the two groups were divided into 3 subgroups: the small size group with 5 patients (lt; 1 cm), the medium size group with 21 patients (1-3 cm) and the large size group with 9 patients (gt; 3 cm). DNA of the tissue and blood samples were extracted, and the PCR followed by DNA sequencing was used to detect the polymorphism of p53 gene codon 72. The expression change of P53 was detected by immunohistochemical staining. The fibroblast apoptosis in keloid tissues was detected by TUNEL method. Results The genetic genotype of p53 gene codon 72 in keloids included Arg/Arg in 7 cases, Pro/Arg in 21 cases, Pro/ Pro in 7 cases. The significant correlation was found between genotype and cl inical phenotype (P lt; 0.05). Immunohistochemical staining revealed that P53 was detectable in peripheral and central groups of small-medium size keloids and central groups keloids, and detectable in few cells in peripheral groups of large size keloids. The absorbency value was 3 439.359 8 ± 538.527 5 in Arg/Arg genotype, 3 273.186 2 ± 375.213 9 in Arg/Pro genotype, 1 691.372 9 ± 98.989 3 in Pro/Pro genotype. There weresignificant differences among the three genotypes (P lt; 0.05). The fibroblast apoptosis was detected by TUNEL, and the apoptotic cells were evenly distributed. The apoptosis index was 31.000 0 ± 3.266 0 in peripheral group of large size keloids, 42.300 0 ± 4.354 8 in peripheral group of medium size keloids, 44.600 0 ± 5.253 6 in peripheral group of small size keloids. There were significant differences among the three groups (P lt; 0.05). Conclusion There is close relationshi p between the cl inical phenotype of keloids and the expression of P53. The polymorphism variation of p53 gene codon 2 is beneficial for apoptosis of fibroblasts in keloids.