摘要:目的:研究高血压病患者脂蛋白脂肪酶(liportein lipase, LPL)S447X基因多态性与认知功能之间的关系。方法: 对2008年1月至2008年11月在四川大学华西医院医院门诊就诊的原发性高血压患者190例,收集一般资料,采用国际通用的简易智力状况量表测验认知功能,计算认知评分,用聚合酶链反应限制性片段长度多态性(PCRRFLP)技术测定LPL S447X基因多态性。同时测定胆固醇、甘油三酯、空腹血糖、空腹胰岛素及餐后2h血糖、餐后2h胰岛素水平。结果: 高血压病患者认知功能正常组和认知功能障碍组组间LPLS447X基因的基因型和基因频率差异均无统计学意义(Pgt;0.05), SS和SX频率分别为92.6%、7.4%,S和X等位基因频率分别为96.3%和3.7%。结论: LPLS447X 基因多态性可能与高血压认知功能障碍无明显相关性。Abstract: Objective:To study the relationship between liportein lipase(LPL) S447X polymorphism and cognitive function in patients with primary hypertension. Methods:One hundred and ninety hypertensive patients from January 2008 to November 2008 in West China Hospital of Si Chuan University. We collected the general data and applied the Mini Mental State Examination to test the cognitive function and computed score. PCRRELP method was used to analyze the LPL S447X gene polymorphism. Total cholesterol、triglyeride、fasting plasma glucose and postprandial blood sugar、fasting insulin and postprandial plasma insulin were collected. Results:In primary hypertensive patients, both of the genotype frequency and the allele frequency of the LPL S447X polymorphism were not different between the cognitive normal group and the cognitive impaired group (Pgt;0.05). SS genotype was present in 0926 of the population, SX genotype was present in 0.074 of the population. allele frequencies were 0.963 for S allele and 0.037 for X allele. Conclusion:This results suggest S447X polymorphism in LPL with primary hypertension may not be associated with cognitive impairment. And age and postprandial plasma insulin level are the risk factors of hypertensive cognitive impairment.
摘要:目的:研究高血压病患者过氧化物酶体增殖物激活受体(PPAR)γ2基因Pro12Ala多态性与血糖水平之间的关系。方法:纳入177名原发性高血压患者,其中空腹血糖(FBG)lt;5.6 mmol/L组65例, FBG≥5.6 mmol/L组112例,收集一般资料;分别测定空腹及餐后2小时血糖、胰岛素;对PPARγ2 基因Pro12Ala多态性与各临床变量的关系进行研究。结果:FBGlt;5.6 mmol/L组和FBG≥5.6 mmol/L组Pro和Ala等位基因频率分别为0.333,0.034及0.602,0.031;PP和PA基因型频率分别为0.299,0.068及0.571,0.062;无AA型纯合子。以体重指数(BMI)分层后,BMIlt;25组内,FBG与PPARγ2基因型相关（P=0.029)。以基因型分组比较,PA组空腹血糖水平和胰岛素抵抗指数都低于PP组(Plt;0.05)。结论:成都地区高血压患者PPARγ2基因Pro12Ala多态性与空腹血糖水平相关,且携带Ala基因者空腹血糖水平较低,胰岛素抵抗较轻,推测该突变可能有减轻高血压病患者胰岛素抵抗,改善糖代谢异常的作用。Abstract: Objective:To study the association between the Pro12Ala polymorphism in peroxisome proliferatorsactivated receptorγ2 ( PPARγ2 ) gene and blood glucose levels in patients with primary hypertension. Methods：The Pro12Ala polymorphism in PPARγ2 was determined by polymerase chain reactionrestriction fragment length polymorphism (PCRRELP) in 177 subjects with primary hypertension of the Han people in Chengdu of China, including 65 subjects with fasting blood glucose (FBG)lt;5.6 mmol/L and 112 subjects with FBG≥5.6 mmol/L; the clinical characteristics including height, weight, OGTT(0h and 2h) of the subjects were detected and the realationship between the Pro12Ala polymorphism and the clinical characteristics were analysed. Results: The allele frequencies in the group with FBGlt;5.6 mmol/L and FBG≥5.6 mmol/L were 0.333, 0.602 for Pro and 0.034, 0.031 for Ala. The genotype frequencies were 0.299, 0.571 for PP and 0.068, 0.062 for PA, and there was no AA. In the group with BMIlt;25, the Pro12Ala polymorphism was associated with FBG （P=0.029). the Ala allele had a negative relationship to the FPG and insulin resistance index (IRI) (Plt;0.05).Conclusion: The data showed that the Pro12Ala polymorphism was associated with FBG., and The allele Ala probably had benefits to glycometabolic disturbance in patients with primary hypertension by declining insulin resistance.
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.
ObjectiveTo explore the correlation of serum levels of 5-hydroxytryptamine (5-HT) and 5-HT2A receptor gene T102C polymorphism with suicidal behavior by poison in non-depressive patients, in order to diagnose and intervene the suicidal behavior of patients as early as possible. MethodsSixty-two non-depressive patients with the behavior of suicide by poison treated between January 2013 and June 2014 were selected as patient group, and other 66 healthy persons were selected as control group. Peripheral blood in the two groups of patients were collected to test the serum levels of 5-HT with enzyme linked immunosorbent assay, and the 5-HT2A receptor gene T102C polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism. The data were analyzed by SPSS 19.0 statistically. ResultsThe serum level of 5-HT in the patient group was significantly lower than that in the control group (P<0.001), and the frequency of T102C genotype in the patient group was higher than the control group (χ2=5.533, P=0.013). The distribution of genotype was different, and homozygous mutations of CC in the patient group were higher than the control group (χ2=5.648, P=0.017). ConclusionThe serum levels of 5-HT and 5-HT2A receptor gene T102C polymorphism, and the frequency of T102C genotype may be related to suicidal behavior by poison in non-depressive patients.
ObjectiveTo investigate the relationship between the gene polymorphism of autophagy-related gene 3 (ATG3) and the development and clinical symptoms of tuberculosis in tuberculosis patients in western China.MethodsAccording to the inclusion and exclusion criteria, 476 tuberculosis patients (tuberculosis group) who were admitted to West China Hospital of Sichuan University from December 2014 to November 2015 and 475 healthy controls (healthy control group) who underwent health examination during the same period were finally included. High-throughput genotyping technology was used to detect genotypes of three single nucleotide polymorphisms (SNPs) (rs2638029, rs2638037, rs3732817) of ATG3 gene, and relevant clinical data of subjects were collected. The relationship between gene polymorphism and susceptibility to tuberculosis and clinical symptoms was analyzed by statistical methods such as χ2 test and logistic regression model.ResultsExcept for GA genotype [odds ratio (OR) =1.375, 95% confidence interval (CI) (1.048, 1.805), P=0.022] and dominant genetic model GG+GA [OR=1.326, 95%CI (1.024, 1.717), P=0.032] in rs2638037, there was no statistically significant difference in the allele frequency, genotype and genetic patterns of rs2638029, rs3732817 and rs2638037 between the two groups (P>0.05), after the adjustment of the gender and age. But after correction by Bonferroni, GA genotype and dominant genetic patterns GG+GA showed no statistical significance between the two groups (P=0.132, 0.201). Haplotype CGA was associated with tuberculosis susceptibility [OR=1.262, 95%CI (1.001,1.593), P=0.048]. There was a statistically significant difference in weight loss symptoms among rs2638037 genotypes (χ2=8.131, P=0.017).ConclusionsThe haplotype CGA of three SNPs of ATG3 gene may be involved in the development of tuberculosis. The rs2638037 single nucleotide polymorphism may be related to weight loss, and more research is needed in the future.
ObjectiveTo explore the relationship between the -2548 G/A functional polymorphism in the 5′ promoter region of the leptin gene and gallstones. Methods The -2548 G/A polymorphisms of leptin gene were determined by polymerase chain reactionrestriction fragment length polymorphism technology (PCRRFLP) in 118 patients with cholesterol gallstones and 53 normal control subjects. Then the allele and genotype distribution were studied. Results The distribution of leptin2458 G/A in two groups was statistically significantly different: the genotype frequency of AA+GA of patients in gallstone group was higher than that in control group (χ2=4.251, P=0.039). AA+AG genotype had 2.813 times greater risk for gallstone disease compared with GG genotype (OR=2.813, 95% CI=1.020-7.757). Allele frequency distribution in the two groups was different: the allele frequency of A of patients in gallstone group was higher than that in control group (χ2=5.791, P=0.016). The risk of gallstone disease in the A alleles carriers was 1.777 times as higher as the carriers of G alleles (OR=1.777, 95% CI=1.110-2.844). ConclusionThe -2548 G/A polymorphism in the 5′ promoter region of leptin gene is significantly correlated with the gallstones. The A alleles of leptin may be a genetic factor which contributes to individual susceptibility for gallstone, while the G alleles of leptin may be a genetic factor that prevents people from gallstone.
Objective To explore the correlation between the single nucleotide polymorphism (SNP) in the promotor of hepatic l ipase (HL) gene and untraumatic avascular necrosis of the femoral head (ANFH). Methods Between January 2007 and June 2009, 243 patients with ANFH were treated (case group), including 143 cases of steroid-induced, 79 cases of alchol-induced, and 21 cases of idiopathic. There were 156 males and 87 females with an age ranged from 16 to 64 years. Atotal of 96 normal individuals (matched for age, sex, and nation) served as control group. The blood sample of all subjects were collected to extract DNA. The promotor of HL was sequenced to find the SNP. A statistic on the frequencies of the genotype and the allele of the SNP was made. The frequencies of the genotype and the allele were analyzed with χ2 test according to case-control principle. Results The rs59644784 and rs1800588 were found in the sequenced region. It was accorded with Hardy-Weinbery genetic equil ibrium law in rs59644784 and rs1800588 of the control group and case group. There was no significant difference in the allele and genotype of rs59644784 and rs1800588 between the control group and case group (P gt; 0.05). The two SNPs existed complete l inkage disequil ibrium according to the l inkage disequil ibrium analysis. Conclusion The heterozygosity of the SNP is not consistency, and heterozygosity may be associated with the diversity of the race. ANFH is not associated with rs59644784 and rs1800588 SNPs.
ObjectiveTo investigate the association between single nucleotide polymorphism (SNP) rs3754219 in the glucose transporters 1 (GLUT1) gene and genetic susceptibility to type 2 diabetes mellitus (T2DM) in Han population in Guangdong Province.MethodsA total of 1 092 T2DM patients (case group) and 1 092 healthy controls (control group) diagnosed or examined between November 2011 and October 2014 form 10 hospitals were enrolled in this study. SNPscanTM SNP classification technology was used to detect the polymorphism of rs3754219 of GLUT1 genetype. Finally, 1 067 T2DM patients and 1 054 healthy controls were included, removing 37 individuals with SNP typing deletion rates >20% and 26 individucals with failed SNP site genotyping. The differences in allele frequency distribution, genotype, and genetic models between the two groups were analyzed.ResultsAfter correction for age and body mass index, there was no statistically significant difference in allele frequency or polymorphism genotype frequency of rs3754219 (P>0.05). There was no statistically significant difference between the two groups under different genetic models (P>0.05).ConclusionGenetic susceptibility to T2DM in Han population in Guangdong Province may be unrelated to the GLUT1 rs3754219 SNP.
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.
Objective To explore the association between manganese superoxide dismutase (MnSOD) Val-9Ala polymorphism and breast cancer risk and to investigate the interaction with menopausal status by meta-analysis. Methods Such databases as The Cochrane Libtary (Issue1, 2010), Pubmed, CBM, CNKI and WanFang Data were searched from the date of their establishment to October, 2010, and the case-control studies of MnSOD Val-9Ala polymorphism and breast cancer risk were collected according to the inclusion and exclusion criteria. Then the quality of the included trials was assessed and meta-analysis was performed by RevMan 4.2.10 software. Results A total of 14 studies involving 17 842 patients were included. The results of meta-analyses showed no significant relation between MnSOD Val-9Ala polymorphism and the breast cancer susceptibility (Val/Ala vs. Val/Val: OR=1.04, 95%CI 0.93 to 1.17; Ala/Ala vs. Val/Val: OR=1.12, 95%CI 0.95 to 1.33; Ala/Ala vs. Val/Ala+Val/Val: OR=1.06, 95%CI 0.93 to 1.20; Val/Ala+ Ala/Ala vs. Val/Val: OR=1.06, 95%CI 0.94 to 1.10). However, in the subgroup analysis, the breast cancer risk significantly increased for premenopausal women (Val/Ala+Ala/Ala vs. Val/Val: OR=1.15, 95%CI 1.01 to1.31). Conclusion This meta-analysis suggests that the MnSOD Val-9Ala polymorphism is not significantly associated with the breast cancer susceptibility, but it may increase the risk of breast cancer in the presence of menopausal state.