scholarly journals Association of Gene Polymorphisms in APOE and BIN1 With Dementia of Alzheimer's Type Susceptibility in Chinese Han Population

2021 ◽  
Vol 12 ◽  
Author(s):  
Xiaoyue Li ◽  
Yelei Zhang ◽  
Xinyu Chen ◽  
Hongwei Yuan ◽  
Zhiqiang Wang ◽  
...  

Objectives: Dementia of the Alzheimer's type (DAT) is the most common chronic neurodegenerative disease. At present, the pathogenesis of DAT is not completely clear, and there are no drugs that can cure the disease. Once an individual is diagnosed with DAT, the survival time is only 3 to 9 years. Therefore, there is an urgent need to determine the etiology of DAT and the associated influencing factors to find a breakthrough in the treatment of DAT.Methods: We studied the relationship between polymorphisms in several genes (including BIN1 and APOE) and DAT susceptibility and the effects of sex differences on DAT. Our study included 137 patients with DAT and 509 healthy controls (HCs).Results: The APOE rs429358 polymorphism CC and CT genotypes were associated with an increased risk of DAT in women. We found a significant association between APOE ε4 and DAT. The frequency of the ε4 allele in the DAT group (15.5%) was higher than that in the HC group (8.7%). The BIN1 rs7561528 polymorphism was associated with a decreased risk of DAT in men.Conclusions: APOE gene rs429358 and BIN1 gene 7561528 genes may affect the susceptibility to DAT in a Chinese Han population.

2019 ◽  
Vol 39 (1) ◽  
Author(s):  
Dexi Jin ◽  
Min Zhang ◽  
Hongjun Hua

Abstract Background: This research aimed to study the associations between XPD (G751A, rs13181), hOGG1 (C326G, rs1052133) and XRCC4 (G1394T, rs6869366) gene polymorphisms and the risk of colorectal cancer (CRC) in a Chinese Han population. Method: A total of 225 Chinese Han patients with CRC were selected as the study group, and 200 healthy subjects were recruited as the control group. The polymorphisms of XPD G751A, hOGG1 C326G and XRCC4 G1394T loci were detected by the RFLP-PCR technique in the peripheral blood of all subjects. Results: Compared with individuals carrying the XPD751 GG allele, the A allele carriers (GA/AA) had a significantly increased risk of CRC (adjusted OR = 2.109, 95%CI = 1.352–3.287, P=0.003). Similarly, the G allele (CG/GG) of hOGG1 C326G locus conferred increased susceptibility to CRC (adjusted OR = 2.654, 95%CI = 1.915–3.685, P<0.001). In addition, the T allele carriers (GT/TT) of the XRCC4 G1394T locus have an increased risk of developing CRC (adjusted OR = 4.512, 95%CI = 2.785–7.402, P<0.001). The risk of CRC was significantly increased in individuals with both the XPD locus A allele and the hOGG1 locus G allele (adjusted OR = 1.543, 95%CI = 1.302–2.542, P=0.002). Furthermore, individuals with both the hOGG1 locus G allele and the XRCC4 locus T allele were predisposed to CRC development (adjusted OR = 3.854, 95%CI = 1.924–7.123, P<0.001). The risks of CRC in XPD gene A allele carriers (GA/AA) (adjusted OR = 1.570, 95%CI = 1.201–1.976, P=0.001), hOGG1 gene G allele carriers (CG/GG) (adjusted OR = 3.031, 95%CI = 2.184–4.225, P<0.001) and XRCC4 gene T allele carriers (GT/TT) (adjusted OR = 2.793, 95%CI = 2.235–3.222, P<0.001) were significantly higher in patients who smoked ≥16 packs/year. Conclusion: Our results suggest that XPD G751A, hOGG1 C326G and XRCC4 G1394T gene polymorphisms might play an important role in colorectal carcinogenesis and increase the risk of developing CRC in the Chinese Han population. The interaction between smoking and these gene polymorphisms would increase the risk of CRC.


2004 ◽  
Vol 92 (10) ◽  
pp. 867-873 ◽  
Author(s):  
Xiaoyang Zhou ◽  
Jianfeng Huang ◽  
Jianhong Chen ◽  
Shaoyong Su ◽  
Runsheng Chen ◽  
...  

SummaryMatrix metalloproteinase (MMP) 3 plays an important role in the pathogenesis of myocardial infarction (MI). Up to now, there has been conflicting data regarding the possible contribution of the MMP3 -1612 5A/6A promoter polymorphism to MI. In this study, we have investigated the possible association of three polymorphisms (-1612 5A/6A, -376C/G, Glu45Lys) in the MMP3 gene with MI in a Chinese Han population. The polymorphisms were analyzed in 509 patients with MI, and in 518 healthy controls. The frequency of the 5A allele was 14% in the healthy controls, which is less than in Western populations (40%-52%). Logistic regression analyses of individual polymorphisms indicated that individuals carrying the -1612 5A allele had an increased risk of MI (odds ratio [OR] 1.75, 95% confidence interval [CI] 1.28 to 2.40), as did those carrying the -376 G allele (OR 1.78, 95% CI 1.33 to 2.38). The three polymorphisms studied were found to be in strong linkage disequilibria. Haplotype analyses showed that the 5A-G-Lys haplotype (-1612 5A, -376G and 45Lys) was independently associated with susceptibility to MI. Taken together, the effect of the MMP3 polymorphisms studied may be attributable to the -1612 5A/6A polymorphism. We conclude that the MMP3 -1612 5A/6A polymorphism is associated with MI in our population, implying that individuals of the 5A allele carriers have an increased risk of suffering MI.


2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Zi-Kai Song ◽  
Hai-Di Wu ◽  
Hong-Yan Cao ◽  
Ling Qin

Lp(a) has been well known as an independent risk factor for coronary artery disease (CAD). TheLPAgene, as it encodes apo(a) of the Lp(a) lipoprotein particle, was associated with increased risk of CAD. The purpose of this study was to analyze the relationship between the polymorphisms ofLPAgene and CAD in Chinese Han population. Five SNPs (rs1367211, rs3127596, rs6415085, rs9347438, and rs9364559) in theLPAgene were genotyped using Sequenom MassARRAY time-of-flight mass spectrometer (TOF) in 560 CAD patients as case group and 531 non-CAD subjects as control group. The numbers of these two groups were from Chinese Han ancestry. The results showed that allele (P=0.046) and genotype (P=0.026) of rs9364559 in theLPAgene was associated with CAD. The frequency of rs9364559 minor allele (G) in case group was obviously higher than that in control group. Results of haplotype analysis showed that 4 haplotypes which contained rs9364559-G were associated with increased risk of CAD in this population. This study explored rs9364559 in theLPAgene may be associated with the pathogenesis of CAD; and the risk of CAD might be higher in the population carrying 4 haplotypes of different blocks in theLPAgene.


2020 ◽  
Author(s):  
Cuijuan Zheng ◽  
Jiayu Wang ◽  
Shouxiang Xie

Abstract Background: Matrix metalloproteinase-9 (MMP-9) plays an important role in the development of sepsis. In order to explore the relationship between MMP-9 -1562 C/T polymorphism and sepsis risk in Chinese Han population, we conducted a case-control study with a sample size of 312 sepsis patients and 413 controls.Methods: The ABI PRISM SNaPshot method (Applied Biosystems, Carlsbad, CA, USA) was performed to genotype the MMP-9 -1562 C/T polymorphism.Results: Our data indicated that MMP-9 -1562 C/T polymorphism was associated with an increased risk of sepsis (CT vs. CC: P = 0.032, OR=1.45, 95%CI =1.03-2.05; TT + CT vs. CC: P = 0.019, OR =1.49, 95%CI = 1.07-2.07). Stratified analyses demonstrated that this increased risk was more evident in smokers, drinkers, females, and overweight individuals (BMI ≥ 25). In addition, cross-over analyses suggested that the combination of smoking and CT genotype of MMP-9 -1562 C/T polymorphism contributed to a higher risk for sepsis.Conclusion: In conclusion, MMP-9 -1562 C/T polymorphism is associated with an increased risk of sepsis in Chinese Han population. MMP-9 -1562 C/T polymorphism may serve as a diagnostic marker for sepsis patients.


2013 ◽  
Vol 41 (2) ◽  
pp. 318-324 ◽  
Author(s):  
Xiaochun Ma ◽  
Yongchao Liu ◽  
Hua Zhang ◽  
Rongfang Qiu ◽  
Hailing Zhao ◽  
...  

Objective.A genome-wide association study and 2 replication studies identified 2 single-nucleotide polymorphisms (SNP) of caspase recruitment domain-containing protein 9 (CARD9) and small nuclear RNA-activating complex polypeptide 4 (SNAPC4) at Chr 9q34.3 associated with ankylosing spondylitis (AS) in whites. We explored a possible association of SNP in CARD9 and SNAPC4 and AS in a Chinese Han population from Shandong.Methods.The study included 1150 patients with AS and 1120 healthy controls who underwent genotyping for 4 SNP of CARD9 and 2 of SNAPC4; we replicated the results in another 490 patients and 380 healthy controls of Ningxia Han Chinese during the same time. We used quantitative real-time PCR (qRT-PCR) to measure CARD9 and SNAPC4 mRNA expression in peripheral leukocytes from 44 patients and 36 controls and allele-specific mRNA expression of CARD9 and SNAPC4 in leukocytes from 130 controls.Results.We validated that an SNP in SNAPC4, rs11145835, was significantly associated with AS in our Chinese Han population (p = 0.001) and replicated the association in samples from the Chinese Ningxia Han population (p = 0.002). Carrying the G allele of rs11145835 was associated with increased risk of AS (OR 1.34, 95% CI 1.12–1.59) and with decreased expression of CARD9 (p = 0.001) and SNAPC4 (p = 0.02) in leukocytes. SNAPC4 mRNA expression was lower in leukocytes from patients than from controls (p = 0.0002).Conclusion.Our study confirmed that an SNP rs11145835 in 9q34.3 that harbors CARD9 and SNAPC4 is associated with AS in a Chinese Han population, and rs11145835 in SNAPC4 is a potential causal variant.


2020 ◽  
Author(s):  
Yuqin Peng ◽  
Bingqian Chen ◽  
Xiaowen Sheng ◽  
Yufeng Qian

Abstract Background: The toll-like receptor (TLR) genes were shown to be involved in the pathogenesis of RA. We aimed to investigate the genetic associations between the TLR-1, -2, -4, and -6 genes polymorphisms and RA susceptibility in a Chinese Han population. Methods : Six polymorphisms (TLR-1 (rs5743610, rs5743618), -2 (rs5743708), -4 (rs4986790, rs4986791), and -6 (rs5743810)) in TLRs genes were genotyped in 360 patients with RA and 560 matched healthy controls by using direct sequencing method. The ORs and 95% CIs were evaluated using a standard logistic regression analysis. Results : No significant association between the allelic, dominant and recessive models of TLR-1 rs5743618, TLR-2 rs5743708, TLR-4 rs4986790 and rs4986791, and TLR-6 rs5743810 polymorphisms and RA risk was observed (p>0.05). However, significant associations were detected between the allelic, dominant and recessive models of TLR-1 rs5743618 and RA risk (allelic: OR[95%CI]= 2.21 [1.73, 2.81], p<0.0001; dominant: OR[95%CI]= 2.33 [1.75, 3.09], p<0.0001; recessive models: OR[95%CI]= 3.70 [1.85, 7.41], p=0.0002), In addition, the TLR6 rs5743810 was found to be associated with the RF - and anti-CCP - antibody in RA group (RF: OR[95%CI]= 2.29 [1.42, 3.69], p=0.0007; anti-CCP: OR[95%CI]= 2.33 [1.39, 3.89], p=0.001). Conclusions : The allelic, dominant, and recessive models of TLR1 rs5743618 might be associated with RA susceptibility. And the TLR6 rs5743810 might be associated with RF and anti-CCP antibody in RA in Chinese Han population.


2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Jintao Zheng ◽  
Ruizhong Zhang ◽  
Jinhong Zhu ◽  
Fenghua Wang ◽  
Tianyou Yang ◽  
...  

Neuroblastoma is one of the most malignant solid tumors in infants and young children. No more than 40% of neuroblastoma patients can survive for longer than five years after it has been diagnosed. XPC protein is a pivotal factor that recognizes DNA damage and starts up the nucleotide excision repair (NER) in mammalian cells. This makes up the first group to defend against the cancer. Previous studies have identified thatXPCgene polymorphisms were associated with various types of cancer. However, the associations betweenXPCgene polymorphisms and neuroblastoma risk have not yet been studied. We investigated the associations between threeXPCgene polymorphisms (rs2228001 A>C, rs2228000 C>T, and rs2229090 G>C) and neuroblastoma risk with 256 neuroblastoma patients and 531 healthy controls in a Chinese Han population. Odds ratios and 95% confidence intervals were used to access the association between these three polymorphisms and neuroblastoma risk. No significant association was detected between these three polymorphisms and neuroblastoma risk in the overall analysis as well as in the stratification analysis. These results suggest that none of these three polymorphisms may be associated with the risk of neuroblastoma in the Chinese Han population.


2020 ◽  
Vol 2020 ◽  
pp. 1-9 ◽  
Author(s):  
Nan Jiang ◽  
Su-yi Li ◽  
Yun-fei Ma ◽  
Yan-jun Hu ◽  
Qing-rong Lin ◽  
...  

This case-control study aimed to investigate potential associations between interleukin (IL) gene polymorphisms and the risks of developing extremity posttraumatic osteomyelitis (PTOM) in Chinese Han population. Altogether, 189 PTOM patients and 200 healthy controls were genotyped of IL-1α (rs17561, rs1800587), IL-1β (rs16944, rs1143627, rs1143634, rs2853550), IL-1RN (rs4251961, rs419598, rs315951), IL-4 (rs2243248, rs2243250), IL-6 (rs1800795, rs1800796, rs1800797), IL-8 (rs4073, rs2227306, rs2227307), IL-10 (rs3024491, rs3024496, rs1800871, rs1800872, rs1800896), IL-17A (rs2275913), and IL-17F (rs763780) using the SNaPshot genotyping method. Statistical differences were observed regarding the genotype distributions of rs16944 (P=0.049) and rs4251961 (P=0.007) between the patients and healthy controls. In addition, significant associations were found between rs16944 and the risk of PTOM development by dominant (OR=1.854, P=0.017), homozygous (OR=1.831, P=0.041), and heterozygous (OR=1.869, P=0.022) models, and of rs1143627 by dominant (OR=1.735, P=0.032) and homozygous (OR=1.839, P=0.040) models. Moreover, significant links were also identified between rs4251961 and the susceptibility to PTOM by dominant (OR=0.446, P=0.005) and heterozygous (OR=0.409, P=0.003) models, and of rs1800796 by dominant (OR=4.184, P=0.029), homozygous (OR=4.378, P=0.026), and heterozygous (OR=3.834, P=0.046) models. The present outcomes demonstrated that rs16944, rs1143627, and rs1800796 associate with increased risks, while rs4251961 links to a decreased risk of PTOM development in Chinese Han population.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Guo-Li Du ◽  
Jun-Yi Luo ◽  
Duolao Wang ◽  
Yan-Hong Li ◽  
Bin-Bin Fang ◽  
...  

AbstractMacrophage migration inhibitory factor (MIF) has been recognized as a major player in the pathogenesis of atherosclerosis. This study determined the association between polymorphisms of MIF gene and acute coronary syndrome (ACS). The polymorphism of MIF gene (rs755622, rs1007888 and rs2096525) was analyzed in 1153 healthy controls and 699 ACS cases in Chinese Han population. Plasma MIF level was also measured in part of ACS patients (139/19.9%) and healthy controls (129/11.2%) randomly. Most participants including healthy controls and ACS patients carried rs755622 GG (63.1% vs. 56.7%) and CG genotypes (33.1% vs. 38.9%) and G allele of rs755622 (79.6% vs. 76.1%, respectively), while CC genotype (3.8% vs. 4.4%) and C allele (20.4% vs. 23.9%) carriers were the lowest. Multivariate logistic regression analysis showed that carriers with rs755622 C allele had a higher risk of ACS compared to other genotypes (AOR = 1.278, 95% CI: 1.042–1.567). In addition, CC genotype carriers had the highest plasma levels of MIF than other genotype carriers. The MIF level in ACS patients with CC genotype was significantly higher than ACS patients carrying GG genotype and healthy controls carrying 3 different genotypes of MIF gene rs755622. Our findings indicate that MIF gene rs755622 variant C allele is associated with increased risk of ACS. Identification of this MIF gene polymorphism may help for predicting the risk of ACS.


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