目的:探讨川南高氟地区人群雌激素受体基因PvuⅡ和XbaⅠ核酸限制性内切酶多态性与膝骨性关节炎的相关性。方法:对川南高氟地区41例膝骨性关节炎患者及40例对照组,用聚合酶链反应限制性片段长度多态性(PCR-RFLP)的方法鉴定雌激素受体的基因型,分析雌激素受体基因多态性与膝骨性关节炎的关系及各基因型在病例组与对照组的分布。结果:41例病例组与40例对照组X基因型及P基因型频率分布差异无显著性(Pgt;0.05)。结论:川南高氟地区人群ER基因多态性与OA无明确相关性。
Objective To summarize the association between CYP1A1 rs4646903 polymorphisms and COPD risk. Methods Systematic literature search was conducted (up to January 2016) in five online databases, ie. PubMed, Embase, China National Knowledge Infrastructure (CNKI), VIP database, and WanFang databases. The strength of association was calculated by odds ratio (OR) and corresponding 95% confidence interval (CI). Results Six case-control studies with 1 050 cases and 1 202 controls were included. This study suggested a significant association between the CYP1A1 rs4646903 polymorphism and COPD risk (CC vs. TT: OR=1.63, 95%CI 1.17-2.27, P=0.004; CC vs. TC+TT: OR=1.62, 95%CI 1.19-2.20, P=0.002). However, there was no significant difference between allele model (C vs. T, OR=1.20, 95%CI 0.95-1.51, P=0.118) and dominant model (CC+TC vs. TT, OR=1.19, 95%CI 0.82-1.72, P=0.366). Conclusions The CYP1A1 rs4646903 polymorphisms might alter the susceptibility of COPD. More well-designed studies with larger sample size are warranted.
ObjectiveTo systematically review the association between glutathione S-transferase pi (GSTP1) Ile105Val (A/G) and the risk of cutaneous melanoma. MethodWe searched PubMed, EMbase, CNKI and WanFang Data to identify case-control studies which investigated the association between GSPT1 Ile105Val (A/G) polymorphism and the risk of cutaneous melanoma from their inception to June 31th 2016. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Then meta-analysis was performed by using RevMan 5.3 software. ResultsA total of 4 case-control studies involving 978 cutaneous melanoma cases and 796 controls were included. The results showed that: the GSPT1 Ile105Val (A/G) polymorphism was significantly associated with the risk of cutaneous melanoma in the dominant model (GG+GA vs. AA: OR=1.22, 95%CI 1.01 to 1.48, P=0.04), but no significant association was found in the recessive model, heterozygote model, and homozygote model (GG vs. CA+AA: OR=1.18, 95%CI 0.86 to 1.60, P=0.30; GA vs. AA: OR=1.20, 95%CI 0.98 to 1.47, P=0.08; GG vs. AA: OR=1.28, 95%CI 0.92 to 1.77, P=0.14). ConclusionCurrent evidence shows, The GSTP1 Ile105Val (A/G) polymorphism is associated with the risk of cutaneous melanoma. Due to limited quantity and quality of the included studies, more high-quality large-scale studies are needed to verify the above conclusion.
ObjectiveTo investigate the association between TNF-α gene -308G/A polymorphism and the risk of coronary atherosclerotic heart disease (CHD) in Chinese population.MethodsWe searched PubMed, Web of Science, CNKI, WanFang Data and VIP Databases from inception to February 2017, to collect case-control studies about the association between TNF-α gene -308G/A polymorphism and risk of CHD in Chinese population. Two reviewers independently screened literature, extracted data and assessed the risk of bias of the included studies. Meta-analysis was performed by Stata 12.0 software.ResultsA total of 10 case-control studies were included. The results of meta-analysis showed a significant association between the TNF-α gene -308G/A polymorphism and CHD risk in Chinese population (A vs. G: OR=1.13, 95%CI 1.02 to 1.26, P=0.020; AA vs. GA/GG: OR=1.47, 95%CI 1.02 to 2.12, P=0.038; AA vs. GG: OR=1.50, 95%CI 1.04 to 2.16, P=0.029).ConclusionThe current evidence shows that the TNF-α gene -308G/A polymorphism may be associated with CHD risk in Chinese population and A allele may be a risk factor. Due to the limited quantity and quality of included studies, more high quality studies are needed to verify the above conclusion.
ObjectiveTo systematically evaluate the association between eNOS gene a/b polymorphism and diabetic retinopathy susceptibility. MethodsPubMed, EMbase, The Cochrane Library (Issue 5, 2015), CBM, CNKI, VIP and WanFang Data were systemically searched from inception to May 2015, to collect case-control studies about the eNOS a/b polymorphism and diabetic retinopathy susceptibility. Two reviewers independently screened literature, extracted data and evaluated the risk bias of included studies. Then, meta-analysis was performed by RevMan 5.2 software. ResultsA total of 16 case-control studies were included, which involved 3 232 diabetic retinopathy cases and 3 555 controls. The results of meta-analysis showed that, in the total analysis, the a/b polymorphism of the eNOS gene was not associated with diabetic retinopathy risk (dominant model:OR=0.94, 95%CI 0.78 to 1.15, P=0.57; recessive model:OR=0.97, 95%CI 0.78 to 1.22, P=0.88; aa vs. bb:OR=0.89, 95%CI 0.71 to 1.12, P=0.32; ab vs. bb:OR=0. 94, 95%CI 0.77 to 1.14, P=0.52; a vs. b:OR=0.97, 95%CI 0.82 to 1.14, P=0.70); In the subgroup analysis by ethnicity, the a/b polymorphism was significantly associated with the risk of diabetic retinopathy in Africans, but not in Asians and Caucasians. ConclusionThe a/b polymorphism in the eNOS gene may be a risk factor of diabetic retinopathy in Africans.
Objective To review the research progress of bone morphogenetic protein (BMP) and the liability of ossification of the posterior longitudinal ligament (OPLL). Methods Recent literature concerning BMP and the liability of OPLL was reviewed, analysed, and summarized. Results The single nucleotide polymorphisms (SNPs) of BMP gene may produce a minor cumulative effect and increase individual susceptibility to OPLL. A variety of environmental factors can promote the occurrence and development of OPLL by increasing the expression of BMP gene. Conclusion The SNPs of BMP gene may increase individual susceptibility to OPLL. However, interaction of cumulative effect of the SNPs and environmental factors can promote the liability to OPLL.
ObjectiveTo evaluate the association between the Single Nucleotide Polymorphism (SNP) BsmI (rs1544410) in the vitamin D receptor gene and the susceptibility of coronary artery disease. MethodsDatabases including PubMed, Web of Science, CNKI, WanFang Data, VIP and CBM were searched from inception to May, 2016 to collect case-control studies about SNP BsmI (rs1544410) in the vitamin D receptor gene and the susceptibility of coronary artery disease. Two reviewers independently screened literature, extracted data, and assessed the risk of bias of included studies. Then Meta-analysis was performed by using RevMan 5.3. ResultsA total of seven studies were included, which involved 2182 patients and 5925 controls. The results of meta-analyses showed that the B allele and BB genotype in rs1544410 was associated with the risk of coronary artery disease (B vs. b:OR=1.36, 95%CI 1.03 to 1.79, P=0.03; BB vs. bb:OR=1.70, 95%CI 1.06 to 2.72, P=0.03; BB+Bb vs. bb:OR=1.52, 95%CI 1.00 to 2.30, P=0.05). Subgroup analysis by age showed that rs1544410 was associated with the risk of coronary artery disease in the age <65(B vs. b:OR=1.65, 95%CI 1.00 to 2.73, P=0.05; BB vs. Bb+ bb:OR=1.79, 95%CI 1.08 to 2.97, P=0.02; BB vs. bb:OR=2.64, 95%CI 1.12 to 6.25, P=0.03). Subgroup analysis by ethnicity showed that rs1544410 was associated with the risk of coronary artery disease in Caucasians (B vs. b:OR=1.47, 95%CI 1.10 to 1.97, P=0.01; BB+Bb vs. bb:OR=1.71, 95%CI 1.09 to 2.68, P=0.02; BB vs. Bb+bb:OR=1.39, 95%CI 1.01 to 1.92, P=0.05; BB vs. bb:OR=1.80, 95%CI 1.10 to 2.95, P=0.03). Subgroup analysis by genotyping methods showed that rs1544410 was associated with the risk of coronary artery disease in the TaqMan (B vs. b:OR=2.18, 95%CI 1.06 to 4.45, P=0.03; BB+Bb vs. bb:OR=3.32, 95%CI 1.06 to 10.40, P=0.04; BB vs. bb:OR=3.31, 95%CI 1.06 to 10.30, P=0.04). Subgroup analysis by diagnostic criteria for cases showed that rs1544410 was associated with the risk of coronary artery disease in the ECG (B vs. b:OR=1.15, 95%CI 1.02 to 1.29, P=0.02; BB+Bb vs. bb:OR=1.22, 95%CI 1.02 to 1.45, P=0.03; BB vs. bb:OR=1.31, 95%CI 1.03 to1.67, P=0.03). ConclusionBsmI (rs1544410) B allele may have a significant association with the high risk of coronary artery disease especially the Caucasians and the ones with age <65.
Parkinson’s disease is a common chronic progressive neurodegenerative disease, and its main pathological change is the degeneration and loss of dopaminergic neurons in substantia nigra striatum. Vitamin D receptors are widely distributed in neurons and glial cells, and the normal function of substantia nigra striatum system depends on the level of vitamin D and the normal expression of vitamin D receptors. In recent years, from basic to clinical research, there are some differences in the conclusion of the correlation of vitamin D and its receptor gene polymorphism with Parkinson’s disease. This paper aims to review the research on the correlation of vitamin D and vitamin D receptor gene polymorphism with Parkinson’s disease, and discuss the future research direction in this field.
Objective To determine the genotype distribution of methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G involved in the folic acid biosynthetic pathway among Chinese Han women in Sichuan, so as to provide pregnant women with guidance of supplementing folic acid. Methods By means of Taqman-MGB, 2382 samples from Deyang region in Sichuan province were tested for detecting the genotype distributions and allele frequencies of MTHFR C677T, MTHFR A1298C and MTRR A66G polymorphisms, and then the results were compared with published data in Shandong, Henan and Hainan provinces. Results The allele frequencies of MTHFR C677T were 63.45 and 36.55, those of MTHFR A1298C were 78.20 and 21.80, and those of MTRR A66G were 72.81 and 27.19. There were significant differences in allele distribution of MTHFR C677T and A1298C between Sichuan Han women and other region population. Conclusion This study suggests that the polymorphism of MTHFR C677T and A1298C exhibits region heterogeneity. The polymorphisms of MTHFR may play a role in neural tube defects (NTDs) risk, so periconceptional folic acid supplementation and healthcare following gene polymorphism testing may be a powerful measure to decrease congenital malformations of the central nervous system.