Objective To systematically review the correlation between polymorphism of DNA methyltransferase 1(DNMT1) rs16999593 and the susceptibility of breast cancer. Methods Databases such as PubMed, EMbase, Web of Science, Chinese Biomedical Literature Database, CNKI, WanFang, and VIP database were searched from inception to Mar. 2017 to collect case-control studies on the correlation between DNMT1 rs16999593 C/T polymorphism and the susceptibility of breast cancer. Two reviewers independently identified the literatures according to inclusion and exclusion criterias, extracted data, and assessed the quality of the included studies. The meta-analysis was performed by using RevMan 5.3 software. Results A total of 5 studies involving 1 741 cases and 1 917 control subjects were included. The results of meta-analysis showed that, dominate model ［TT+TC vs. CC: OR=0.63, 95% CI was (0.30, 1.30), P=0.21］, homozygous model ［TT vs. CC: OR=1.01, 95% CI was (0.70, 1.47), P=0.95］, heterozygous model ［TC vs. CC: OR=0.44, 95% CI was (0.18, 1.04), P=0.06］, and additive model ［T vs. C: OR=1.29, 95% CI was (0.90, 1.86), P=0.16］ were not significantly related to breast cancer, but recessive gene model was related to breast cancer ［TT vs. TC+CC: OR=1.74, 95% CI was (1.01, 3.00), P=0.04］. Conclusion The current studies showed that, DNMT1 rs16999593 TT genotype decreases the susceptibility of breast cancer.
Objective To investigate the correlation between CYP2C19 gene polymorphisms and the incidence and prognosis of heart failure. Methods 1 368 patients who underwent parallel genomic testing and visited the Department of Cardiology at the People’s Hospital of Xinjiang Uygur Autonomous Region between June 2021 and December 2022 were selected. After quality control of genotype data, the patients were divided into a heart failure group and a control group based on diagnostic criteria. Genotyping of 31 genes and 62 single nucleotide polymorphism (SNPs) was performed using TaqMan-SNP genotyping technology. Differences in allele distribution and clinical indicators between the two groups were compared, and the incidence of cardiovascular adverse events in the heart failure group was followed up and calculated. Results A total of 1 352 patients were included. Among them, there were 169 cases in the heart failure group and 1 183 cases in the control group. At the rs12769205 locus of the CYP2C19 gene, the risk of disease for patients carrying the G allele was lower than those carrying the A allele (odds ratio=0.733, P=0.023). In addition to age, coronary heart disease, BMI, and the type of allele was also an independent influencing factor for heart failure (P＜0.05). Moreover, the level of cardiac troponin T in carriers of two mutant alleles was significantly higher than in carriers of one mutant allele (P =0.044) and in carriers of the wild-type allele (P=0.028). During the follow-up period, no significant differences were observed in the cumulative incidence of major cardiovascular adverse events among the three genotypes at the rs12769205 locus. Conclusion The polymorphic locus rs12769205 of the CYP2C19 gene is associated with the occurrence of heart failure, which may provide a theoretical basis for the diagnosis and treatment of heart failure.
Objective To investigate the correlation between OPRM1 A118G gene polymorphism and Eysenck personality type and pain sensitivity. Methods The surgical patients who were transferred from Department of Emergency Medicine to Department of General Surgery of Luzhou People’s Hospital between January 2018 and December 2020 were selected. Before surgery, Eysenck Personality Questionnai (EPQ) was used to investigate the patient’s personality type, and the pain threshold and pain tolerance threshold were determined by electric stimulation instrument. The OPRM1 A118G genotype of peripheral venous blood was detected by polymerase chain reaction-restriction fragment length polymorphism analysis technique. Patients were divided into wild homozygous (A/A) group, mutant heterozygous (A/G) group and mutant homozygous (G/G) group according to the typing results. The general condition, pain sensitivity, EPQ score, difference of Eysenck personality type and correlation between Eysenck personality type and pain sensitivity were analyzed. Results A total of 356 patients were enrolled, including 174 in A/A group, 136 in A/G group and 46 in G/G group. The mutation rate of OPRM1 A118G gene was 32.00%. There were statistically significant differences in pain sensitivity (pain threshold, pain tolerance threshold) and scores of introverted and extraverted, neurotic and dissemble personality types among three groups (P<0.05). There were significant differences in introverted and extraverted and psychotic personality types among the three groups (P<0.05). There were significant differences in pain threshold and pain tolerance threshold among different introverted, extraverted and psychotropic personality types (P<0.05). Conclusion Both OPRM1 A118G gene polymorphism and Eysenck personality type have influence on pain sensitivity, and there is a correlation between them.
ObjectiveTo understand progress of gene research for chronic venous ulcer (CVU) so as to seek for the best treatment strategy for it.MethodThe literatures about studies on gene polymorphism and variability that leaded to the occurrence and development of CVU in recent years were reviewed and analyzed.ResultsThe CVU was mainly caused by the chronic venous insufficiency (CVI). Many changes in the gene expression had been found in the curable CVU and incurable CVU. The expressions of regulated inflammatory genes, encoding extracellular peptide genes, and encoding different cellular pathways genes in the incurable CVU patients had remarkable differences as compared with the healthy individuals. Although there were more studies on incurable CVU than curable CVU, it was still unable to accurately predict the healing time of CVU. At the same time, genome-wide associations study had not been performed to find single nucleotide polymorphism related to the risk of CVU.ConclusionsAlthough CVU is mainly caused by CVI, not all patients with CVI have ulcer. At present, parts of risk factors of CVU have been known, such as age, iliofemoral vein embolism, deep vein insufficiency, hypertension, obesity, and so on. However, there are fewer studies on heredity, so it is necessary to strengthen its research. Gene expression and gene polymorphism have increasingly become focus of research on causes of chronic inflammation. Genome-wide association study is a gold standard of complex disease genetics, so it is neccessary to further search so as to better understand genetic basis and genetic background of CVU and find the best treatment strategy for improving ulcer healing.
Objective To evaluate associations betweenMTHFD1 gene G1958A polymorphism and the risk of neural tube defects (NTDs). Methods We electronically searched databases including PubMed, The Cochrane Library, Web of Science, CNKI, VIP, and WanFang Data from inception to June 2016 to collect case-control studies of the correlation between the G1958A polymorphism inMTHFD1 and the risk of NTDs. Two reviewers independently screened the studies, extracted data and assessed the risk of bias of included studies, and then, meta-analysis was performed using Stata 12.0 software. Results Thirteen case-control studies were included, involving 1 724 NTDs infants, 1 485 mothers and 774 fathers with NTDs offspring. The results of meta-analysis showed that there was significant association betweenMTHFD1 gene G1958A polymorphism and increased risk of NTDs in infants (AAvs. GG: OR=1.437, 95%CI 1.100 to 1.878,P=0.008; AA+AGvs. GG: OR=1.187, 95%CI 1.031 to 1.367,P=0.017; Avs. G: OR=1.210, 95%CI 1.050 to 1.394,P=0.008). However, there was no association between biparentalMTHFD1 gene G1958A polymorphism and NTDs in the offspring. Conclusion The current evidence shows thatMTHFD1 gene G1958A polymorphism may be a genetic risk factor for NTDs. Due to the limited quantity and quality of the included studies, more high quality studies are needed to verify the above conclusion.
Warfarin is one of the most frequently prescribed oral anticoagulant. Many researches have shown that the genotypes have been strongly associated with warfarin maintenance doses. Especially, it has been accepted in academia that cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase complex 1 subunit (VKORC1) could affect the warfarin maintenance doses. There are also many other genotypes that were reported to be related to warfarin doses, but the results have been in controversial so far. The studies found that the dose formula which contained the genetic factors and clinical information could accurately predict the maintenance dose of warfarin, however, its usefulness is suspected due to the inconsistent results of clinical trials. Large-sample and multi-center studies are necessary to verify the specific effects of gene and non-gene factors to warfarin dose; at the same time, testing constructed models or building new models help to improve the explained percentages of individual differences.
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 analyze the human leukocyte antigen (HLA) gene polymorphism and haplotype frequency and distribution in Han patients with end stage renal disease (ESRD) in Sichuan province, and explore the correlation of HLA gene polymorphism and haplotype with the susceptibility to ESRD in Sichuan Han patients. Methods Polymerase chain reaction-sequence specific oligonucleotide probe hybridization typing technique was used to detect the HLA-A, -B, -DRB1, and -DQB1 genotypes of Han patients with ESRD and healthy participants. The allele and haplotype frequencies in the ESRD group and the control group were analyzed using SPSS 25.0 and Arlequin 3.5.2.2 softwares. Results A total of 756 ESRD patients and 1118 healthy participants were enrolled. In the four loci of HLA-A, -B, -DRB1, and -DQB1, the frequency of HLA-B*39 allele in the ESRD group was higher than that in the control group [3.37% vs. 2.19%; χ2=4.850, P=0.028, odds ratio (OR)=1.558, 95% confidence interval (CI) (1.047, 2.319)], the frequency of HLA-DQB1*06 allele in the ESRD group was lower than that in the control group [17.39% vs. 21.20%; χ2=8.264, P=0.004, OR=0.783, 95%CI (0.662, 0.925)], and the frequency of HLA-DQB1*04 allele in the ESRD group was higher than that in the control group [7.41% vs. 5.46%; χ2=5.867, P=0.015, OR=1.386, 95%CI (1.063, 1.807)]. The frequencies of 10 haplotypes, including HLA-A*11-B*39, HLA-DRB1*15-DQB1*06, and HLA-DRB1*04-DQB1*04, were significantly different between the ESRD group and the control group (P<0.05), among which 9 haplotypes were possibly susceptible to ESRD and 1 haplotype was possibly protective. Conclusions HLA gene polymorphism is closely related to the susceptibility to ESRD. HLA-B*39 and HLA-DQB1*04 may be susceptible genes for ESRD in Sichuan Han patients, while HLA-DQB1*06 may be a protective gene. In addition, 10 HLA haplotypes are possibly associated with the susceptibility to ESRD in Sichuan Han patients.
Pain, as a complex physiological and pathological phenomenon, has always been a hot topic in medical research in terms of its mechanism of occurrence and influencing factors. Vitamin D, as a fat soluble vitamin, has been shown to be closely associated with pain in recent years, in addition to its classic role in regulating calcium and phosphorus metabolism. The polymorphism of the vitamin D receptor (VDR) gene can lead to changes in the structure and function of VDR, thereby affecting vitamin D levels. Meanwhile, VDR gene polymorphism can indirectly or directly participate in the occurrence and development of pain. This article aims to review the research on the relationship between vitamin D and its receptor gene polymorphism and pain, and provide reference for potential therapeutic targets and personalized intervention strategies for pain.
Objective To explore association of apolipoprotein B (ApoB) gene rs676210 and rs2854725polymorphisms with gallstone disease and differences of polymorphisms between Uygur population and Han population. Methods A case control study was used. One hundred and eighty-nine patients with gallstone disease from 2010 to 2014 in our hospital were collected, of which 99 cases of Uygur population and 90 cases of Han population. One hundred and ninety age- and sex-matched healthy volunteer accepted physical examination in our hospital over the same period were collected as control, of which 93 Uygur population and 97 Han population. The ApoB genotyping of DNA samples were amplified by using SNaPshot single nucleotide polymorphism (SNP). The differences of polymorphisms between Uygur population and Han population and between patients with gallstone disease and healthy volunteer were analyzed. Results ① The differences of ApoB gene rs676210 and rs2854725 allele frequencies were not found between the patients with gallstone disease and healthy volunteer whether Uygur population or Han population (Uygur population: rs676210:χ2=0.229,P=0.633; rs2854725:χ2=0.028,P=0.866. Han population: rs676210:χ2=0.608,P=0.435; rs2854725:χ2=2.673,P=0.102). ② The differences of ApoB gene rs676210 and rs2854725 allele frequencies were not found between Uygur population and Han population whether the patients with gallstone disease or healthy volunteer (Patients with gallstone disease: rs676210:χ2=0.103,P=0.748; rs2854725:χ2=3.139,P=0.076. Healthy volunteer: rs676210:χ2=0.000,P=0.990; rs2854725:χ2=2.673,P=0.102). ③ The differences of ApoB gene rs676210 and rs2854725 genotype frequencies were not found between the patients with gallstone disease and healthy volunteer whether Uygur population or Han population (Uygur population: rs676210:χ2=2.301,P=0.317; rs2854725:χ2=3.040,P=0.219. Han population: rs676210:χ2=4.909,P=0.086; rs2854725:χ2=0.107,P=0.744). ④ The differences of ApoB gene rs676210 and rs2854725 genotype frequencies were not found between Uygur population and Han population patients with gallstone disease (rs676210:χ2=0.235,P=0.899; rs2854725:χ2=3.630,P=0.057). The difference of ApoB gene rs676210 genotype frequency was not found between Uygur population and Han population with healthy volunteer (χ2=1.026,P=0.599). While the difference of ApoB gene rs2854725 genotype frequency was found between Han population and Uygur population with healthy volunteer (χ2=9.153,P=0.010). When it was compared in pairs,α=0.05/3=0.016, the difference of G/T and T/T frequencies was found between Uygur population and Han population (χ2=6.128,P=0.013), G/T of Han population (27.8%) was higher than that of Uygur population (12.9%). Conclusions ApoB gene rs676210 and rs2854725 polymorphisms are not associated with gallstone disease. For healthy volunteer, ApoB gene rs676210 polymorphism shows no ethnics-specific difference between Uygur population and Han population, but ApoB gene rs2854725 polymorphism mightbe show a difference between Uygur population and Han population. Larger sample sizes and multicenter study are needed to confirm it.