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ALDH1A1 Genetic Variations May Modulate Risk of Parkinson's Disease in Han Chinese Population.

ABSTRACT: Background: Studies in animal models have suggested that aldehyde dehydrogenase 1 (encoded by ALDH1A1) protects against Parkinson's disease (PD) by reducing toxic metabolites of dopamine. Herein we aimed to investigate whether ALDH1A1 was genetically associated with PD susceptibility in humans. Methods: A Han Chinese population of 1,039 subjects was recruited to analyze six tag-single nucleotide polymorphisms (SNPs), followed by haplotype analyses and variants interaction analyses. Real-time PCR was used to analyze mRNA levels of ALDH1A1 in peripheral blood of 42 subjects. Results: The tag-SNP rs7043217 of ALDH1A1 was significantly associated with PD susceptibility with the T serving as a risk allele (genotype frequency, P = 0.030; allele frequency, P = 0.013, OR = 1.258, 95% CI = 1.050-1.508). Multiple haplotypes were linked to abnormalities of PD risk, topped by a 4-SNP GGTA module in the order of rs4646547, rs1888202, rs7043217, and rs647880 (P = 9.610 × 10^-8, OR = 6.420, 95% CI = 2.944-13.998). Interaction analyses showed that a simultaneous presence of the CC genotype of rs7043217 and the TT genotype of ALDH2 variant rs4767944 conferred an elevated protection against PD (P = 4.68 × 10^-4, OR = 0.378, 95% CI = 0.219-0.652). The mRNA expression of ALDH1A1 showed a trend of reduction (P = 0.084) in PD patients compared to the controls. Conclusion: Our results provide novel genetic insights into the role of ALDH1 in PD pathogenesis.

SUBMITTER: Fan HH

PROVIDER: S-EPMC8017280 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Genetic Variations of <i>CARMN</i> Modulate Glioma Susceptibility and Prognosis in a Chinese Han Population.

Project description:BackgroundThis study aimed to evaluate the relationship between CARMN polymorphisms and glioma risk and prognosis in a Chinese Han population.MethodsSeven single nucleotide polymorphisms (SNPs) in CARMN were genotyped among 592 glioma patients and 502 healthy controls. Log-additive models were used for risk assessment by the odds ratios (ORs) and 95% confidence intervals (CIs). Univariate and multivariate Cox regression analysis was applied to calculate Hazard ratios (HRs) and 95% CIs for prognosis assessment.ResultsCARMN rs13177623 was a protective factor for glioma susceptibility (OR = 0.78, p = 0.043). In addition, rs13177623, rs11168100, rs12654195 and rs17796757 were associated with the risk of glioma among the subgroup stratified by age or gender. We also found that G rs13177623G rs12654195 haplotype was related to the decreased risk of glioma (OR = 0.61, p = 0.005). Importantly, rs13177623 [overall survival (OS): HR = 0.83, p = 0.047, and progression free survival (PFS): HR = 0.82, p = 0.031], rs12654195 (OS: HR = 0.64, p = 0.005 and PFS: HR = 0.65, p = 0.007) and rs11168100 (OS: HR = 0.71, p = 0.035) were associated with a better prognosis for glioma, especially in grade I-II glioma. In patients with grade III-IV glioma, rs17796757 polymorphism presented an improved OS.ConclusionOur results firstly reported the contribution of CARMN variants (rs11168100, rs12654195, rs13177623, and rs17796757) to the susceptibility and prognosis of glioma in a Chinese Han population, which provided a novel insight on the relationship between CARMN gene and glioma tumorigenesis.

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Common genetic variations in Patched1 (PTCH1) gene and risk of hirschsprung disease in the Han Chinese population.

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<i>TRPM8</i> genetic variations associated with COPD risk in the Chinese Han population.

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Genetic variants in GAPDH confer susceptibility to sporadic Parkinson's disease in a Chinese Han population.

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| S-EPMC5378942 | biostudies-literature

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