Dataset Information

The Impact of EGFR Gene Polymorphisms on the Risk of Alzheimer's Disease in a Chinese Han Population: A Case-Controlled Study.

ABSTRACT: BACKGROUND The aim of this study was to investigate the association between polymorphisms of the epidermal growth factor receptor (EGFR) gene with the risk of Alzheimer's disease (AD) in a Chinese Han population. MATERIAL AND METHODS A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was used to genotype 139 patients with AD and 152 healthy control individuals. The Hardy-Weinberg equilibrium (HWE) was analyzed using the chi-squared (?²) test, and genotype and allele frequencies were compared between the two population groups, using the ?² test. The odds ratios (ORs) and corresponding 95% confidence intervals (CI) were calculated to express the degree of risk of AD resulting from polymorphisms in the EGFR gene. Linkage disequilibrium among EGFR polymorphisms was analyzed using the Haploview bioinformatics software. RESULTS The CC genotype and C allele frequencies of rs730437 were significantly lower in patients with AD compared with the controls (P=0.037), indicating that rs730437 was associated with a reduced risk of AD (CC vs. AA: OR=0.446, 95% CI=0.207-0.960) (C vs. A: OR=0.702, 95% CI=0.502-0.980). The presence of the TT genotype of rs1468727 significantly reduced the risk of AD (P=0.003; OR=0.333, 95% CI=0.160-0.691), and T allele carriers of rs1468727 had a 0.605-fold increased risk of AD. Haplotype A-C-C was significantly correlated with an increased risk of AD (OR=1.922, 95% CI=1.130-3.269). CONCLUSIONS In a Han Chinese population, EGFR gene polymorphisms, rs730437 and rs1468727 and haplotype A-C-C were shown to be possible protective factors for the development of AD.

SUBMITTER: Chen X

PROVIDER: S-EPMC6067016 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature

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The Impact of EGFR Gene Polymorphisms on the Risk of Alzheimer's Disease in a Chinese Han Population: A Case-Controlled Study.

Chen Xiuhong X Wang Changhai C Zhou Shuangbao S Li Xueyong X Wu Lan L

Medical science monitor : international medical journal of experimental and clinical research 20180720

BACKGROUND The aim of this study was to investigate the association between polymorphisms of the epidermal growth factor receptor (EGFR) gene with the risk of Alzheimer's disease (AD) in a Chinese Han population. MATERIAL AND METHODS A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was used to genotype 139 patients with AD and 152 healthy control individuals. The Hardy-Weinberg equilibrium (HWE) was analyzed using the chi-squared (χ²) test, and genotype and a ...[more]

PMID: 30026459

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Project description:BackgroundLumbar disc herniation (LDH) is a complex spinal disease, with multiple genetic polymorphisms being related to its risk. Nevertheless, the role of LINC-PINT polymorphisms in LDH risk has remained unknown. Therefore, this study aimed to investigate the association between LINC-PINT polymorphisms and LDH risk.MethodsDNA was extracted from 504 LDH patients and 500 healthy controls. Three single nucleotide polymorphisms (SNPs) in LINC-PINT were selected and genotyped using Agena MassARRAY. We used logistic regression analysis to calculate odds ratios (ORs) and 95% confidence intervals (95% CIs) under multiple genetic models to evaluate the association between LINC-PINT polymorphisms and LDH risk. Haploview 4.2 and SNPStats software were used to evaluate the linkage strength of SNPs and the correlation between haplotypes and LDH risk. The impact of SNP-SNP interactions on LDH risk was analyzed using multi-factor dimensionality reduction (MDR).ResultsResults showed that rs157916 (G vs. A: OR = 1.23, FDR-p = 0.029) and rs7801029 (G vs. C: OR = 1.39, FDR-p = 0.006; GG vs. CC: OR = 2.34, FDR-p = 0.038; recessive: OR = 2.13, FDR-p = 0.045; additive: OR = 1.39, FDR-p = 0.030) were associated with an increased risk of LDH. Furthermore, LINC-PINT rs157916 and rs780129 were found to be significantly associated with LDH risk in males. The "GGG" haplotype was associated with increased LDH risk (OR = 1.41, FDR-p = 0.006). MDR analysis indicated that the interaction between rs7801029 and rs16873842 was associated with an increased risk of LDH (OR = 1.47, p = 0.004). Additionally, there were significant differences in C-reactive protein levels among different genotypes of rs157916 and rs780129 (p < 0.05).ConclusionThis study suggests that LINC-PINT gene polymorphisms (rs157916 and rs7801029) are considered risk factors for LDH in the Chinese Han population and provide a scientific basis for early screening, prevention, and diagnosis of LDH.

Dataset Information

The Impact of EGFR Gene Polymorphisms on the Risk of Alzheimer's Disease in a Chinese Han Population: A Case-Controlled Study.

Publications

The Impact of EGFR Gene Polymorphisms on the Risk of Alzheimer's Disease in a Chinese Han Population: A Case-Controlled Study.

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