The simplified Kyoto classification score is consistent with the ABC method of classification as a grading system for endoscopic gastritis

The ABC method combined with Helicobacter pylori antibody and serum pepsinogen is a useful predictive method for stomach cancer. Kyoto classification is a new grading system for endoscopic gastritis. However, the consistency of the Kyoto score with the ABC method remains unclear. The Kyoto classification score, which ranges from 0 to 8, is based on the following findings: atrophy, intestinal metaplasia, diffuse redness, nodularity, and enlarged folds. Furthermore, we defined a simplified Kyoto classification score as the sum of scores of just atrophy and intestinal metaplasia. The association between the Kyoto classification score and the ABC method was analyzed using the Kruskal-Wallis and Steel-Dwass tests. A total of 307 subjects were enrolled. Kyoto classification scores were similar in groups B, C, and D, while scores in group A were significantly lower than those of the other groups. The simplified Kyoto classification score showed the same stepwise increase as the classification of the ABC method. In conclusion, unlike the Kyoto classification score, the simplified Kyoto score showed the same significant stepwise increase as the classification of the ABC method.     

PARP1单核苷酸多态性对晚期胃癌奥沙利铂化疗反应及预后的影响

目的探讨多聚腺苷二磷酸核糖聚合酶(PARP-1)单核苷酸多态性(SNP)与晚期胃癌患者化疗反应及生存时间的关联性。方法选择2016年5月至2019年12月于苏州科技城医院肿瘤内科收治的161例晚期胃癌患者,给予奥沙利铂联合替吉奥化疗,化疗前抽空腹静脉血5 ml用于提取基因组DNA。TaqMan探针法鉴别PARP1基因rs907187C/G、rs1805414T/C和rs1136410T/C多态性位点的基因型,分析各多态性对化疗客观反应率(ORR)及总生存期(OS)的影响。结果 rs907187C/G多态性与化疗敏感性存在明显关联,变异等位基因G携带者化疗ORR显著升高,CC、CG、GG基因型分别为23.2%、42.2%、53.7%(P=0.007)。杂合基因型CG化疗ORR为CC基因型的2.362倍(P=0.035);纯合变异基因型GG化疗ORR为CC基因型的3.812倍(P=0.003);CG+GG基因型化疗ORR为CC基因型的2.854倍(P=0.005)。Kaplan-Meier分析显示rs1136410T/C多态性与患者OS显著相关,变异等位基因C携带者中位OS明显延长,TT、...     

汉族人群CNOT6基因多态性与胃癌易感性的关系

目的探讨汉族人群中CNOT6基因3'UTR区 +3908 C>T多态与胃癌易感性的关系。方法本病例对照研究人群为年龄和性别匹配的960例经手术病理证实的胃癌患者和972例对照健康者。采用聚合酶链式反应限制性片段长度多态性(PCR RFLP)分析个体CNOT6基因3'UTR区 +3908 C>T多态的基因型。以比值比(odds ratio,OR)及其95%可信区间(confidence interval,CI)表示相对危险度。以logistic回归模型计算各基因型的OR及其95%CI。结果对于rs10069多态,TT/CT基因型携带者患胃癌的风险比CC基因型携带者显著降低(OR=0.74; 95%CI=0.60~0.93), 在<56岁患者中关联更显著。并且,CC基因型和幽门螺杆菌感染对胃癌发病风险存在累积作用(OR=2.32; 95%CI=1.41~3.82)。结论CNOT6基因+3908 C>T多态与胃癌易感性相关。     

Venous thromboembolism-related genetic determinant F11 rs4253417 is a potential prognostic factor in ischaemic stroke

Ischaemic stroke (IS) and venous thromboembolism (VTE) are two forms of thromboembolism that, although distinct, seem to share numerous risk factors. Concerning genetic risk factors, while many VTE genetic markers have been reported, inclusively by genome-wide association studies (GWAS), the identification and validation of genetic determinants underlying IS pathogenesis have been challenging. Considering that IS and VTE shared biological pathways and aetiological factors, the severity of IS might be also influenced by VTE-related genetic variants. Thus, the present study was designed to analyse the impact of six VTE GWAS-identified genetic variants on the clinical outcome of 363 acute IS patients. Results revealed that the single-nucleotide polymorphism (SNP) F11 rs4253417 was an independent predictor of the 5-year risk of death among patients with total anterior circulation infarct (TACI). Namely, the ones carrying the SNP C allele presented a fourfold increase in the 5-year risk of death compared to TT genotype carriers (CC/CT vs. TT; adjusted HR, 4.240; 95% CI, 1.260–14.270; P = 0.020). This SNP is known to be associated with coagulation factor XI (FXI) levels, thus with implications in haemostasis and inflammation. As such, F11 rs4253417 might be a promising prognostic biomarker among TACI patients to aid in clinical decision-making. However, additional investigation is required to confirm the study's results and dissect the underlying mechanisms.     

Vascular endothelial growth factor (VEGF) polymorphisms in HELLP syndrome patients determined by quantitative real-time PCR and melting curve analyses

BACKGROUND: The vascular endothelial growth factor (VEGF) has a critical role in vasculogenesis and vascular permeability in several diseases including preeclampsia. There are at least 30 single nucleotide polymorphic (SNP) places on this gene. VEGF G+405C, C-2578A and C-460T SNPs are known to be related to VEGF production. VEGF polymorphisms were studied in preeclampsia, but not in HELLP syndrome. Therefore, we decided to determine the allele and genotype frequencies of VEGF G+405C, C-460T and C-2578A SNPs in healthy pregnant women and HELLP syndrome patients. METHODS: The authors introduced a quantitative real-time PCR method for the determination of the three VEGF SNPs. Blood samples were collected from 71 HELLP syndrome patients and 93 healthy controls. DNA was isolated by using silica adsorption method. The SNPs were determined by quantitative real-time PCR and melting curve analysis using LightCycler. RESULTS: There were significant differences in the allele and genotype frequencies of VEGF C-460T SNP between the two study groups. The T allele was present in 71.1% in the HELLP group, while in 53.8% in the controls (p=0.0014). The TT genotype occurred significantly more frequently in the HELLP group than in the control group (45.1% vs. 21.5%; p (for genotype frequencies)=0.0011). The TT genotype carriers had an increased risk of HELLP syndrome, which was independent of maternal age and primiparity (adjusted odds ratio (OR)=3.03, 95% confidence interval (CI)=1.51-6.08; p=0.002). Although the VEGF G+405C allele and genotype distributions did not differ significantly between the two groups, the CC genotype carriers were also found to have an increased risk for HELLP syndrome after adjustment for maternal age and primiparity (adjusted OR=3.67, 95% CI=1.05-12.75; p=0.041). The VEGF C-2578A SNP was not associated with HELLP syndrome. CONCLUSIONS: The quantitative real-time PCR combined with melting curve analyses is a fast and reliable method for the determination of VEGF SNPs. We found that the VEGF -460TT and +405CC genotype carriers have an increased risk of HELLP syndrome. As these two SNPs were previously observed to be related to production of the VEGF protein, we suppose that these VEGF polymorphisms -- interacting with other genetic and environmental factors - could play a role in the development of HELLP syndrome.     

Association between interleukin gene polymorphisms and susceptibility to gastric cancer in the Qinghai population

ObjectiveTo investigate the associations between interleukin (IL) gene polymorphisms and susceptibility to gastric cancer in the Qinghai population, China.MethodsPatients with gastric cancer and cancer-free controls were enrolled into the study from Qinghai Provincial People’s Hospital between September 2016 and September 2018. Single nucleotide polymorphisms (SNPs) were genotyped with the Sequenom MassARRAY® SNP genotype system. The Hardy–Weinberg equilibrium in allele and genotype frequencies, and general characteristics between patients with gastric cancer and cancer-free controls, were evaluated using χ²-test. Potential associations between interleukin gene variants and the risk of gastric cancer were analysed by logistic regression.ResultsAmong eight candidate SNPs, the allele and genotype frequency distribution of IL-1B rs1143634 polymorphism was significantly different between patients with gastric cancer (n = 190) and cancer-free controls (n = 186). The IL-1B rs1143634 GA genotype and IL-1B rs1143634 GA + AA genotype were associated with a reduced risk of gastric cancer, however, the remaining SNPs were not statistically associated with gastric cancer risk in the Qinghai population.ConclusionThe IL-1B rs1143634 polymorphism might be associated with a decreased risk of gastric cancer, and may be a protective factor against gastric cancer.     

A novel non-synonymous SNP of the COLX gene and its association with duck reproductive traits

Type X collagen (COLX) is a known marker of chondrocyte hypertrophy, which is exclusively expressed in hypertrophic chondrocytes and is reported to be involved in the process of mineralization. The purpose of this study was to investigate the relationship between COLX genotypes of single nucleotide polymorphism (SNP) and reproductive traits of Tsaiya ducks. A total of 336 Brown Tsaiya ducks from two lines, the control line (CL) with no selection and the selected line (SL), were employed for testing. We employed polymerase chain reaction -single strand conformation polymorphism and DNA sequencing to screen the polymorphisms of the COLX gene. One novel non-synonymous SNP in coding region (T74C: Val24Ala) of the COLX gene was found, and resulted in 3 genotypes TT, TC, and CC. The frequencies of genotype TT and allele T were high in both lines. Regarding egg weight at 40 weeks of age (EW40), based on SNP–trait association analysis, ducks with the CC genotype had a 4.09 and 4.15 g/egg lower EW40 as compared with ducks with the TT and TC genotypes in the CL, respectively (P < 0.05). In addition, significant positive dominance effect of 2.10 ± 1.05 g/egg for EW40 was detected (P = 0.0481). This finding indicated that selection for the genotype TT and TC ducks might contribute to an improved egg weight in the Tsaiya ducks. Further investigations on more duck populations with large sample sizes are needed to confirm.     

SLC22A3 is associated with lipoprotein (a) concentration and cardiovascular disease in familial hypercholesterolemia

Background and aimsSeveral clinical and genetic factors have been shown to modulate the cardiovascular risk in subjects affected by familial hypercholesterolemia (FH). Genome wide association studies (GWAS) in the general population have identified several single nucleotide polymorphisms (SNPs) significantly associated with the risk of cardiovascular disease (CVD). This include the rs2048327 variant in the SLC22A3 gene. However, the effect of this SNP in FH subjects is unknown. The objectives of this study are to investigate the association between rs2048327 and the prevalence of CVD as well as with the concentration of lipoprotein (a) (Lp (a)), in a cohort of genetically-confirmed heterozygous FH patients.MethodsAn enzyme-linked immunoassay kit was used to assess the Lp (a) concentration, whereas an exome chip genotyping method was used to impute the rs2048327 genotype.ResultsThe cohort comprised 287 non-carriers (TT), 305 heterozygous carriers (TC) and 76 homozygous carriers of the rs2048327 variant. In a model corrected for traditional cardiovascular risk factors, rs2048327 was significantly associated with Lp (a) level (median value of 12, 16 and 29 mg/dL in TT, TC and CC carriers, respectively, p < .0001). In a model corrected for cardiovascular risk factors and Lp(a) value, carrying the C allele was associated with a 2-fold increased risk of CVD (OR 1.96, 95%CI 1.21–3.19, p = .007).ConclusionsIn this study, we demonstrated that the rs2048327 SNP of the SLC22A3 gene was significantly associated with Lp(a) as well as with CVD events in FH subjects. Further studies are required in order to investigate the mechanisms behind these associations.     

Utility of Kyoto Classification of Gastritis in subjects with a high-negative titer of anti-Helicobacter pylori antibody during a medical check-up

Subjects with a high-negative titer (3–9.9 U/ml) of serum anti-Helicobacter pylori (H. pylori) antibody represent a heterogeneous group of currently H. pylori-infected, H. pylori-uninfected, and previously H. pylori-infected cases. We investigated the characteristics of subjects with a high-negative titer during a medical check-up and the utility of H. pylori infection score, the sum of scores of endoscopic findings based on the Kyoto Classification of Gastritis, for diagnosing H. pylori infection. Subjects with ¹³C-urea breath test-positive or H. pylori stool antigen test-positive were diagnosed as currently H. pylori-infected. Although around half of subjects with a high-negative titer were after eradication therapy (48.6%), currently H. pylori-infected were considerably confirmed (11.7%). H. pylori infection score showed a high value of area under the receiver operating characteristic curve [0.92; 95% confidence interval (CI), 0.84–1.00] with the most suitable cut-off value of 1.0 (sensitivity: 0.92; specificity: 0.90). Multivariate logistic regression analysis revealed that H. pylori infection score was an independent factor associated with increased prevalence of H. pylori infection (odds ratio, 9.53; 95% CI, 2.64–34.40; p<0.001). Currently H. pylori-infected subjects were considerably included among the subjects with a high-negative titer, and the Kyoto Classification of Gastritis was useful to predict current H. pylori infection.     

Iron deficiency accelerates Helicobacter pylori–induced carcinogenesis in rodents and humans

Gastric adenocarcinoma is strongly associated with Helicobacter pylori infection; however, most infected persons never develop this malignancy. H. pylori strains harboring the cag pathogenicity island (cag⁺), which encodes CagA and a type IV secretion system (T4SS), induce more severe disease outcomes. H. pylori infection is also associated with iron deficiency, which similarly augments gastric cancer risk. To define the influence of iron deficiency on microbial virulence in gastric carcinogenesis, Mongolian gerbils were maintained on iron-depleted diets and infected with an oncogenic H. pylori cag⁺ strain. Iron depletion accelerated the development of H. pylori–induced premalignant and malignant lesions in a cagA-dependent manner. H. pylori strains harvested from iron-depleted gerbils or grown under iron-limiting conditions exhibited enhanced virulence and induction of inflammatory factors. Further, in a human population at high risk for gastric cancer, H. pylori strains isolated from patients with the lowest ferritin levels induced more robust proinflammatory responses compared with strains isolated from patients with the highest ferritin levels, irrespective of histologic status. These data demonstrate that iron deficiency enhances H. pylori virulence and represents a measurable biomarker to identify populations of infected persons at high risk for gastric cancer.     

MYNN rs10936599基因多态性与急性心力衰竭患者短期预后的相关性

目的探讨MYNN基因的rs10936599位点多态性与急性心力衰竭（AHF）患者预后的关系。 方法选取2012年3月至2016年3月于南京医科大学第一附属医院心血管内科住院的AHF患者328例,采用TaqMan探针法对MYNN基因的SNP位点rs10936599（T/C）进行基因多态性检测,记录并比较不同基因型患者（TT基因型、CT基因型、CC基因型）住院期间的人口学特征、临床资料、病因和伴随疾病、住院期间治疗用药等基线资料,并对所有患者进行12个月的前瞻性随访,随访终点为全因死亡。分析rs10936599位点多态性对AHF预后的影响。 结果（1）rs10936599基因型频率分布：TT基因型100例（占30.5%）,CT基因型162例（占49.4%）,CC基因型66例（占20.1%）;rs10936599位点的基因型和等位基因频率在死亡患者和存活患者间比较,差异有统计学意义（χ²=9.749,P=0.0076;χ²=9.641,P=0.0019）。（2）心率、血清钾水平及住院期间地高辛和醛固酮拮抗剂使用情况在不同基因型患者间比较,差异有统计学意义（H=7.714,P=0.021;F=3.254,P=0.040）;其他基线资料在不同基因型患者间比较,差异无统计学意义（P＞0.05）。（3）Kaplan-Meier曲线分析显示携带等位基因C（CC/CT）的AHF患者12个月生存率较TT基因型患者明显下降,差异有统计学意义（TT vs CT,P=0.026;TT vs CC,P=0.002）。（4）进一步Cox回归分析结果显示杂合子CT基因型和纯合子CC基因型是影响AHF患者预后的独立危险因素（HR=2.10,95%CI：1.07~4.12;HR=2.96,95%CI：1.42~6.19）。 结论MYNN基因rs10936599位点多态性与AHF患者预后有关,CC和CT基因型是预测AHF患者12个月不良预后的独立危险因素。     

Effects of PPM1K rs1440581 and rs7678928 on serum branched-chain amino acid levels and risk of cardiovascular disease

ObjectiveThis study aimed to investigate the effects of PPM1K rs1440581 and rs7678928 single nucleotide polymorphisms (SNPs) on the serum branched-chain amino acids (BCAAs) levels and cardiovascular disease (CVD) risk.MethodsAnthropometric and biochemical examinations were performed at baseline and the end of 4 years in 234 individuals who were randomly recruited from the Diabetes Prevention Programme in Huai’an and received lifestyle intervention and follow up for 4 years. Serum BCAAs (leucine, isoleucine and valine (Val)) levels were measured by hydrophilic interaction chromatography-tandem mass spectrometric method and the PPM1K rs1440581 and rs7678928 were detected by high-throughput SNP genotyping at baseline. The associations of rs1440581 and rs7678928 with serum BCAA levels and risk for CVD after 4 years were further evaluated.ResultsThe distribution frequencies of PPM1K rs1440581 and rs7678928 met the Hardy-Weinberg equilibrium (p> .05). The baseline serum levels of Val (p = .022) and total BCAAs (p = .026) in subjects with rs1440581 CC genotype were higher than in those with TT genotype. There were no significant differences in the serum levels of BCAAs among subjects with different genotypes of rs7678928. After 4-year follow-up, the subjects with rs1440581 CC genotype had higher systolic blood pressure (SBP) (p = .027), diastolic blood pressure (DBP) (p = .019), triglycerides (TGs) (p = .019) and lower high-density lipoprotein cholesterol (HDL-c) (p = .008) than those with TT genotype, and had higher AST level than those with TT (p = .030) or TC (p = .003) genotype; the subjects with rs7678928 TT genotype had higher SBP (p = .039) and DBP (p = .019) and lower HDL-c than those with CC (p = .017) genotype. Lifestyle intervention had little influence on the serum levels of fasting plasma glucose (FPG), TG, HDL-c, alanine aminotransferase (ALT), AST and creatinine (CREA) in subjects with rs1440581 CC genotype or rs7678928 TT genotype (p> .05). The incidences of CVD and non-alcoholic fatty liver disease (NAFLD) in subjects with rs1440581 CC genotype were higher than in those with TT genotype; the incidence of CVD in subjects with rs7678928 TT genotype was higher than in those with CC (p < .05) genotype.ConclusionsAllele C of PPM1K rs1440581 was associated with elevated serum Val, total BCAAs and CVD risks. rs1440581 CC genotype may be a better marker than baseline serum BCAAs in predicting the risk for CVD.Trial registrationDiabetes Prevention Programme in Huai’an of Huai’an Second People''s Hospital, ChiCTR-TRC-14005029.

KEY MESSAGE

1. Allele C of PPM1K rs1440581 was relevant to elevated serum Val and total BCAAs.
2. PPM1K rs1440581 CC and rs7678928 TT genotypes were associated with CVD risk.
3. PPM1K rs1440581 CC genotype carriers were more likely to have liver injury and develop NAFLD.

     

Relationship between AGT rs2493132 polymorphism and the risk of coronary artery disease in patients with NAFLD in the Chinese Han population

ObjectiveTo investigate the relationship between angiotensin (AGT) rs2493132 gene polymorphism and the risk of developing non-alcoholic fatty liver disease (NAFLD) and coronary artery disease (CAD) in the Chinese Han population.MethodsPolymerase chain reaction was performed to determine AGT genotypes. Anthropometric and clinical data were investigated and statistically analyzed in the clinical laboratory department of Qingdao Municipal Hospital.ResultsThe AGT rs2493132 CT + TT genotype was an important risk factor for CAD in patients with NAFLD and NAFLD + CAD in healthy controls. The AGT rs2493132 T allele increased the risk of NAFLD + CAD in healthy controls. The AGT rs2493132 CT + TT genotype and T allele also significantly increased the risk of CAD in patients with NAFLD after adjustments for age, sex, and body mass index. In addition, AGT rs2493132 T allele carriers showed higher total cholesterol (TC) and low-density lipoprotein (LDL) levels compared with non-carriers.ConclusionsThe AGT rs2493132 CT + TT genotype and T allele significantly increased the risk of developing CAD in patients with NAFLD in the Chinese Han population. The AGT rs2493132 T allele was associated with increased serum TC and LDL levels.     

Methylenetetrahydrofolate reductase C677T gene polymorphism and the association with dyslipidemia in type 2 diabetic Palestinian patients

BackgroundDyslipidemia in diabetes is common and characterized by hypertriglyceridemia with decreased levels of high‐density lipoprotein. The objective of this study was to assess the prevalence of MTHFR C677T polymorphism in Palestinian T2DM patients and to investigate the association between this polymorphism and lipid profile in diabetic patients with and without dyslipidemia.MethodsA total of 208 T2DM patients including 98 with dyslipidemia and 110 without dyslipidemia were enrolled in this study. The MTHFR C677T genotyping was conducted by PCR‐RFLP followed by agarose gel electrophoresis.ResultsThere were no significant differences in either the genotype distribution or allele frequency in T2DM patients with or without dyslipidemia (37.8% CC, 54% CT, 8.2% TT vs. 48.2% CC, 41.8% CT, 11% TT; p = 0.209). However, among the dyslipidemic group, the TT carriers have a higher HDL level (46.8 ± 17.8) compared to (CC+CT) carriers (34.68 + 11.9) (p = 0.01). In the group without dyslipidemia, there was a significant elevation in diastolic blood pressure (DBP) among the CC carriers (83.6 ± 10.6) compared to those who carried at least one mutant allele (CT+TT) (78.1 ± 11.1) (p = 0.009).ConclusionsThe study shows that in our Palestinian population the MTHFR 677TT genotype lowers DBP significantly in patients without dyslipidemia and is related to increased level of HDL in diabetic dyslipidemia patients.     

Genetic association of rs11610206 SNP on chromosome 12q13 with late-onset Alzheimer's disease in a Han Chinese population

BackgroundSeveral genome wide screens and candidate gene studies have implicated the chromosome 12p13 locus as possibly harboring genetic variants predisposed to late-onset Alzheimer's disease (LOAD). Recently, the strongest significant association was reported for the single nucleotide polymorphism (SNP) rs11610206 on chromosome 12q13 in an independent genome-wide association study (GWAS) in Caucasians.MethodsWe investigated whether the SNP on chromosome 12q13 was associated with LOAD in a Han Chinese population. The common rs11610206 SNP on chromosome 12q13 was genotyped using MALDI-TOF mass spectrometry in 322 patients with LOAD and in 391 healthy controls matched for sex and age.ResultsPatients with LOAD had higher frequencies of T allele (56.0% versus 49.2%) compared with controls [odds ratio (OR) = 1.45, 95% confidence intervals (CI) = 1.08–1.95, and P = 0.01]. After stratification by APOE ε4-carrying status, the T allele of rs11610206 was significantly associated with LOAD only in APOE ε4 allele carriers (OR = 2.05, 95% CI = 1.21–3.47, and P = 0.007). Furthermore, multivariate logistic regression analysis showed that the TT genotype carriers demonstrated a 1.52-fold risk when compared with (TC + CC) genotype carriers (OR = 1.52, 95% CI = 1.07–2.17, and P = 0.02).ConclusionsThis study demonstrates an association of rs11610206 polymorphism locus on chromosome 12q13 with risk for LOAD in Han Chinese.     

The Expression of Murine Double Minute 2 (MDM2) on Helicobacter pylori-Infected Intestinal Metaplasia and Gastric Cancer

The overexpression of murine double minute 2 (MDM2) is found in several human tumors, and increased expression of MDM2 inactivates the apoptotic and cell cycle arrest function of p53. Interleukin-16 (IL-16) is a pleiotrophic cytokine and the properties of IL-16 suggest that it involve in the pathophysiological process of chronic inflammatory diseases. In this study, we investigated the expression of MDM2 in intestinal metaplasia and gastric cancer as well as the effect of H. pylori infection and IL-16 on epithelial cell proliferation and MDM2 expression in gastric cells in vitro. The expression of MDM2 on gastric biopsies was studied immunohistochemistry. AGS cells were incubated with a combination of IL-16 and Helicobacter pylori (H. pylori). Gastric epithelial cell proliferation was studied by BrdU uptake and the expressions of MDM2 were studied by ELISA. There was no significant difference on the expression of MDM2 between with and without H. pylori infected chronic gastritis. In H. pylori infected gastric mucosa; the MDM2 expression was higher on intestinal metaplasia and gastric cancer than chronic gastritis. IL-16 administration was increased MDM2 expression and cell proliferation on AGS cells, which was decreased by H. pylori infection. In conclusion, the expression of MDM2 in long-term H. pylori infected gastric mucosa may indicate a risk for carcinogenesis. IL-16 secretion in H. pylori infected mucosa is one of the factors for gastric cancer. The expression of MDM2 on mucosa can be a mediator for gastric cancer.     

金属蛋白酶2基因-1306C/T多态性与冠心病的关系

目的:研究金属蛋白酶2(MMP-2)基因-1306C/T多态性与冠心痛(CAD)发病的相关性.方法:采用基质辅助激光解吸电离飞行时间质谱技术(MALDI-TOF MS),检测283例冠心病患者与161例对照组人群MMP-2基因-1306C/T位点的基因型和等位基因的分布.结果:MMP-2基因-1306C/T位点基因型频率及等位基因频率在两组分布差异有统计学意义(P＜0.01),经Logistic回归分析后,CC基因型携带者患冠心病风险是T等位基因携带者(CT+TT)的2.038倍(OR=2.038,95％CI=1.193-3.481,P＜0.01).结论:MMP-2基因-1306C/T位点与冠心病发病的危险性相关,CC基因型可能是冠心病发病的遗传危险因素.     

Seroprevalence of Helicobacter pylori in human immunodeficiency virus-infected patients in a tertiary care hospital in Busan,South Korea

IntroductionHuman immunodeficiency virus (HIV) infection management has recently become more successful. While the life expectancy of HIV-infected patients increased, the prevalence of non-acquired immunodeficiency syndrome-defining cancers, such as gastric cancer, also increased. Helicobacter pylori is associated with gastric cancer, the most common cancer and the fourth leading cause of cancer-related deaths in South Korea, which has the highest incidence of chronic gastric mucosa inflammation. Here, the seroprevalence and risk factors of H. pylori infection in Korean HIV-infected patients were evaluated.MethodsThree hundred HIV-infected patients attending the Outpatient Department of Pusan National University Hospital were prospectively enrolled from October 2018 to February 2019. Socio-demographic information was evaluated using questionnaires, and the serological status of H. pylori infection was analyzed for anti-H. pylori IgG antibodies.ResultsThe overall seropositivity of H. pylori was 32.7%, and 254 patients (84.7%) were male. The risk factors significantly associated with H. pylori seropositivity were: age of 40–49 years (odds ratio [OR] = 5.00; 95% confidence interval [CI] 1.30–19.17), age of 50–59 years (OR = 3.93; 95% CI 1.05–14.73), CD4 cell counts of 350–500/μL (OR = 4.23; 95% CI 1.53–11.65), CD4 cell counts ≥500/μL (OR = 2.78; 95% CI 1.15–6.72), and a weekly average alcohol consumption of at least one alcoholic beverage (OR = 1.78; 95% CI 1.05–2.99).ConclusionsThe seroprevalence of H. pylori is significantly associated with alcohol consumption, high CD4 cell count, and the age group of 40–59 years.     

C7基因调节区遗传变异对结直肠癌易感性的影响研究

目的 探讨补体7(C7)基因遗传变异与结直肠癌易感性的关系。方法 利用GEPIA数据库分析基因C7在结直肠癌组织与正常组织中的表达差异;利用TIMER数据库分析C7表达及拷贝数变异与结直肠癌免疫细胞浸润的相关关系。采用病例对照研究分析C7遗传变异对结直肠癌发病风险的影响。使用PCR-限制性片段长度多态性分析对C7 rs1061429和rs1376178单核苷酸多态性（SNP）进行基因分型。使用非条件logistic回归计算比值比（OR）和95%置信区间（CI）,分析C7rs1061429和rs1376178遗传变异与结直肠癌易感性的关系。结果 与结直肠正常组织相比,C7在结直肠癌组织中的表达显著降低（P<0.05）。C7表达及拷贝数变异可影响结直肠癌免疫细胞浸润。与C7 rs1061429 CC基因型携带者相比,CA基因型携带者可显著增加直肠癌发病风险（OR=1.42,95%CI:1.08～1.86）。与C7 rs1376178 CC基因型携带者相比,CA基因型携带者的结肠癌发病风险增加（OR=1.50,95%CI:1.06～2.10）,CA或AA基因型携带者有较高的直肠癌发病风...