Lack of Associations betweenXPCGene Polymorphisms and Neuroblastoma Susceptibility in a Chinese Population

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.

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

Frontiers in Psychiatry ◽

10.3389/fpsyt.2021.753909 ◽

2021 ◽

Vol 12 ◽

Author(s):

Xiaoyue Li ◽

Yelei Zhang ◽

Xinyu Chen ◽

Hongwei Yuan ◽

Zhiqiang Wang ◽

...

Keyword(s):

Sex Differences ◽

Gene Polymorphisms ◽

Chinese Han Population ◽

Healthy Controls ◽

Chinese Han ◽

Han Population ◽

Increased Risk ◽

Dementia Of Alzheimer’S Type ◽

Ε4 Allele ◽

The Relationship

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.

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The genetic association between TLR-1, -2, -4, and -6 gene polymorphisms and rheumatoid arthritis (RA) susceptibility in a Chinese Han population

10.21203/rs.3.rs-18788/v1 ◽

2020 ◽

Author(s):

Yuqin Peng ◽

Bingqian Chen ◽

Xiaowen Sheng ◽

Yufeng Qian

Keyword(s):

Gene Polymorphisms ◽

Direct Sequencing ◽

Chinese Han Population ◽

Healthy Controls ◽

Toll Like Receptor ◽

Genetic Associations ◽

Chinese Han ◽

Han Population ◽

Sequencing Method ◽

Direct Sequencing Method

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.

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Associations between Interleukin Gene Polymorphisms and Risks of Developing Extremity Posttraumatic Osteomyelitis in Chinese Han Population

Mediators of Inflammation ◽

10.1155/2020/3278081 ◽

2020 ◽

Vol 2020 ◽

pp. 1-9 ◽

Cited By ~ 1

Author(s):

Nan Jiang ◽

Su-yi Li ◽

Yun-fei Ma ◽

Yan-jun Hu ◽

Qing-rong Lin ◽

...

Keyword(s):

Gene Polymorphisms ◽

Case Control Study ◽

Case Control ◽

Chinese Han Population ◽

Healthy Controls ◽

Chinese Han ◽

Han Population ◽

Posttraumatic Osteomyelitis ◽

Genotyping Method ◽

Control Study

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.

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Association of CD40 Gene Polymorphisms With Systemic Lupus Erythematosus and Rheumatoid Arthritis in a Chinese Han Population

Frontiers in Immunology ◽

10.3389/fimmu.2021.642929 ◽

2021 ◽

Vol 12 ◽

Author(s):

Qi Huang ◽

Wang-Dong Xu ◽

Lin-Chong Su ◽

Xiao-Yan Liu ◽

An-Fang Huang

Keyword(s):

Rheumatoid Arthritis ◽

Systemic Lupus Erythematosus ◽

Lupus Erythematosus ◽

Gene Polymorphisms ◽

Chinese Han Population ◽

Healthy Controls ◽

Systemic Lupus ◽

Chinese Han ◽

Han Population ◽

Cd40 Gene

Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are complex autoimmune diseases. CD40 participates in inflammatory response, and promotes fibroblast proliferation, leading to occurrence and progression of SLE, RA. This study explores CD40 gene polymorphisms in SLE and RA patients from a Chinese Han population. Two hundred SLE patients, 340 RA patients, and 900 healthy controls were enrolled. Genomic DNA was extracted from peripheral blood, and six polymorphisms of CD40 gene (rs3765456, rs1569723, rs73115010, rs13040307, rs1883832, and rs4810485) were detected by KASP method. Frequencies of rs1569723 genotypes AA, AC, AA+AC were significantly higher in RA patients as compared to those in healthy controls (P = 0.049, P = 0.024, P = 0.022). Frequencies of genotypes CT, CC+CT of rs1883832, and GT, GG+GT of rs4810485 were significantly higher in RA patients as compared to those in healthy controls (P = 0.012, P = 0.018, P = 0.009, P = 0.015). RA patients carrying rs13040307 C allele and rs73115010 T allele showed increased number of swollen joints. Moreover, frequency of allele T of rs13040307 was lower in SLE patients with positive anti-dsDNA and hematuria as compared to that in patients without these parameters (P = 0.038, P = 0.045). There were increased frequencies of genotype TT, allele T for rs13040307 and lower frequencies of genotype TT, allele T for rs73115010 in lupus patients with myositis (all P<0.05). Interestingly, frequencies of rs1569723 A allele, rs4810485 T allele were higher in SLE patients with myositis, and frequencies of rs3765456 A allele, rs1883832 T allele were lower in SLE patients with myositis (All P<0.05). In conclusion, CD40 gene polymorphisms may associate with susceptibility to SLE and RA.

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