RAB40C gene polymorphisms rs62030917 and rs2269556 are associated with an increased risk of lumbar disc herniation development in the Chinese Han population

Author(s):  
Kexun Liu ◽  
Hongjun Huo ◽  
Wenchao Jia ◽  
Manglai Li ◽  
Zichao Xiong ◽  
...  
2021 ◽  
Author(s):  
Dandan Li ◽  
Huqiang Mai ◽  
Yuhe Wang ◽  
Li Wang ◽  
Xiaoli Liu ◽  
...  

Abstract Background: Lumbar disc herniation (LDH) is a high incidence spinal disease caused by disc degeneration, nuclear pulse displacement or fiber ring degeneration. This study aimed to explore the correlation between PTPN9 susceptibility and lumbar disc herniation in Chinese Han population.Methods: The subjects were 504 patients with lumbar disc hernia and 503 controls. PTPN9 polymorphism (rs76107647, rs10851882, rs753992, rs11072552) are genotype using Agena MassArray. In addition, Logistic regression was used for odds ratios (ORs) and 95% confidence intervals (CIs) to assess the impact of genetic polymorphisms on LDH occurrence.Results: In the allele model, rs76107647 A (p = 0.023) is associated with a reduced risk of LDH . In the analysis of genetic models, we found that rs76107647 (adjusted, A/A vs. G/G: p = 0.035; A/A vs. AG/GG: p = 0.044; log - additive model: p = 0.022, respectively) and rs11072552 (adjusted, C/C vs. A/A: p = 0.048; C/C vs. CA/AA: p = 0.010, respectively)were significantly related to LDH risk reduction. After age stratification, rs76107647(adjusted, A/A vs. G/G: p = 0.036; A/G vs. G/G: p = 0.008, ; AA/AG vs. G/G: p = 0.002; log–additive model: p = 0.001, respectively) can reduce the risk of LDH for young people ≤ 49 years old, while rs11072552 (adjusted, CC vs. CA/AA: p = 0.009) can significantly reduce the risk of LDH in patients over 49 years old. With gender stratification, rs76107647 (adjusted, A/A vs. G/G: p = 0.017, ; A/A vs. AG/GG: p = 0.019; log - additive model: p = 0.018, respectively) was significantly associated with reduced LDH risk in female. Conclusion: Our research suggests that PTPN9 polymorphisms may have protective effects on the risk of LDH in Chinese Han population.


2019 ◽  
Vol 25 ◽  
pp. 3728-3738 ◽  
Author(s):  
Yong Zhu ◽  
Shunan Li ◽  
Yao Sun ◽  
Jiamin Wu ◽  
Zichao Xiong ◽  
...  

2020 ◽  
Vol 47 (6) ◽  
pp. 546-553
Author(s):  
Jiamin Wu ◽  
Yao Sun ◽  
Zichao Xiong ◽  
Jianfeng Liu ◽  
Haiyue Li ◽  
...  

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.


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.


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