Objective To systematically evaluate the correlation between type 2 diabetes mellitus (T2DM) in Chinese population and K121Q polymorphism in exon-4 of plasma cell glycoprotrin-1 (PC-1) gene. Methods The following databases such as CNKI, VIP, CBM, PubMed, EMbase, The Cochrane Library (Issue 3, 2012) and WanFang Data were searched to collect case-control studies on the correlation between T2DM and K121Q polymorphism in exon-4 of PC-1 gene. The retrieval time was from 1980 to 2012. 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. Results A total of 11 studies involving 1 637 T2DM patients and 1 730 healthy volunteers were included. The results of meta-analyses showed that, for Chinese population, the risk of T2DM was higher in those with K/Q genotype than K/K genotype (OR=1.84, 95%CI 1.19 to 2.85, P=0.006), in Q/Q+K/Q genotype than K/K genotype (OR=1.92, 95%CI 1.18 to 3.14, P=0.009), and also in allele Q than allele K (OR=1.83, 95%CI 1.16 to 2.89, P=0.010). Conclusion The K121Q polymorphism in exon-4 of PC-1 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 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.
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 investigate the relationship between single nucleotide polymorphism (SNP) and therapy response of some conventional chemotherapy drugs in breast cancer, and to explore the value of SNP in guiding individualized treatment. Methods Pub-Medline and Chinese CHKD periodical electronic databases were searched. Representative researches in this field were sorted out and concluded. Results Varied genes related to drug metabolism have SNP phenomenon, which are closely associated with interindividual diversity in drug response. Race, section, environment, and drug-drug or gene-gene interactions may have effect on the association.Conclusion The study on SNP has important application prospect in optimizing the individual drug-delivery. However, the combinatorial analyses of multi-SNPs and multi-genes and the prospective studies with large-scale samples and random controls are still needed.
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.
Objective To investigate the relationship between p53 codon 72 polymorphism and susceptibility to keloid. Methods The p53 genotypes were detected by polymerase chain reactionreverse dot blot(PCRRDB) and DNA direct sequencing among 15 healthy controls and 15 patients with keloid. Results The frequency of the Proallele(P=0.035) and Pro/Pro genotype(P=0.030) in patients was significantly higher than that in the controlls. There was no significant difference in the frequency of Pro/Arg and Arg/Arg genotypes between patients and controls. Conclusion The p53 gene codon 72 polymorphism may play a role in susceptibility to keloid.
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 correlation between retinopathy of prematurity（ROP） susceptibility and +405G/C and 936T/C polymorphism of vascular endothelial growth factor A（VEGF-A）gene. Methods 99 ROP infants（ROP group）and 80 premature infants（control group）were enrolled in this study. There was no difference of gestational age, birth weight and preoxygenation time between the ROP and control group (P＞0.05 ). The peripheral blood was collected, polymorphism genotypes and frequency of VEGF-A+405 and VEGF-A936 were measured by pyrosequencing. Results There are CC, GG, CG genotypes in VEGF-A+405 site, while CC, CT genotypes in VEGF-A 936 site. The VEGF-A+405 gene allele of C, G were 92,106 with the frequencies of 46.5%, 53.5% in the ROP group, and 90, 70 with the frequencies of 56.2%, 43.8% in the control group; the difference between two groups was not statistically significant (chi;2=3.396, P=0.066). There was no correlation between VEGF-A+405 polymorphism and ROP susceptibility (OR=0.675,OR95% CI=0.444, 1.026). The VEGF-A 936 gene allele of C, G were 32,166 with the frequencies of 16.2%, 83.8% in the ROP group, and 16, 144 with the frequencies of 10.0%, 90.0% in the control group; the difference between two groups was not statistically significant (chi;2=2.894, P=0.089). There was no correlation between VEGF-A 936 polymorphism and ROP susceptibility (OR=0.768, OR95% CI=0.711, 0.829). Conclusion There is no correlation between VEGF-A+405 or VEGF-A 936 polymorphism and ROP susceptibility.
Objective To observe the relationship between endothelial constitutive nitric oxide synthase (ecNOS) genetic polymorphism and diabetic retinopathy（DR）of non insulindependent diabetes mellitus (NIDDM) patients of the Han nationality.Methods A total of 166 patients who clinical diagnosed with NIDDM as case group, 85 cases of patients (cataract or fracture) and healthy subjects without diabetes, hypertension and kidney disease,over 40 years old of age and without consanguinity between each other were selected as normal control group. Case group were divided into non-DR (NDR) group, nonproliferative-DR (BDR) group and proliferativeDR (PDR) group according to the result of fundus fluorescein angiography. Case group and normal control group subjects all were Han nationality. DNA was extracted from peripheral venous blood; the fourth 27 base pairs (bp) repeat polymorphism of ecNOS gene by was measured by polymerase chain reaction (PCR). Results The 27 bp repeat sequences within the ecNOS gene present in the Han nationality,allele b repeat 5 times, alleles a repeat 4 times. PCR results showed that there are 2 alleles and 3 genotypes in normal control, NDR, BDR and PDR group. The frequency of genotype bb、ab、aa were 80%, 16.5%, 3.5% in normal subjects; 77.2％, 13.9%, 8.9％ in NDR group; 80.5％, 17.1%,2.4％ in BDR group;78.3％, 13%, 8.7％ in PDR group,respectively. The allele frequency (chi;2 =1.841) and gene frequency (chi;2=3.847) were not statistically significant (P＞0.5) in normal control,NDR,BDR and PDR group. Logistic regression analysis showed that there is no relation between DR and ecNOS duplicated gene polymorphism. Conclusions There is 27 bp repeated polymorphism in 4th intron of ecNOS gene, which may not be associated with the DR of NIDDM in the Han nationality.
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.