Dataset Information

Association of single-nucleotide polymorphism on chromosome 9 and ischemic stroke in Heilongjiang province in China.

ABSTRACT: There is a significant correlation between ischemic stroke (IS) and chromosome 9. However, its status was uncertain in China's cold regions. 1920 IS patients, and 1920 healthy individuals were included in the study. Blood samples were collected. The association of SNPs with IS was evaluated by Sequenom, and logistic regression models adjusted for known risk factors of IS were constructed to assess the SNPs' associations in cases and controls. We found rs1333040 and rs2383207 were associated with IS, compared with primitive genotypes. The genotype CT of rs7027526 has a protective role during IS development, while the effect of the genotype TT is still not clear. These results changed after stratification by age and sex. In conclusion, rs1333040 and rs2383207 SNPs in CDKN2BAS are associated with ischemic stroke in the Chinese Han population. This study confirms the association between 9p21.3 and IS.

SUBMITTER: Jin M

PROVIDER: S-EPMC8255203 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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Association of single-nucleotide polymorphism on chromosome 9 and ischemic stroke in Heilongjiang province in China.

Jin Ming M Zhang Hao H Zhang Qi Q Li Xueyan X Wu Nan N Hu Ying Y Qiu Changchun C Wang Ningning N Zhang Keyong K

International journal of clinical and experimental pathology 20210615 6

There is a significant correlation between ischemic stroke (IS) and chromosome 9. However, its status was uncertain in China's cold regions. 1920 IS patients, and 1920 healthy individuals were included in the study. Blood samples were collected. The association of SNPs with IS was evaluated by Sequenom, and logistic regression models adjusted for known risk factors of IS were constructed to assess the SNPs' associations in cases and controls. We found rs1333040 and rs2383207 were associated with ...[more]

PMID: 34239674

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Project description:BackgroundIschemic stroke (IS) is the main cause of death and adult disability. However, the pathogenesis of this complicated disease is unknown. The present study aimed to assess the relationship between ITLN1 single nucleotide polymorphisms (SNPs) and the susceptibility to IS in Xi'an population, Shaanxi province.MethodsIn this study, we designed polymerase chain reaction (PCR) primers located at -3,308 bp upstream of the transcription initiation site within promoter region of the ITLN1 gene. The target fragment was amplified by PCR and identified by agarose gel electrophoresis. Sanger sequencing was then performed in the samples extracted from a cohort comprising 1,272 participants (636 controls and 636 cases), and the obtained sequences were compared with the reference sequences available on the National Center for Biotechnology Information (NCBI) website to detect SNPs in the ITLN1 gene promoter region. Logistic regression analysis was employed to assess the relationship between ITLN1 polymorphisms and IS risk, with adjustments for age and gender. Significant positive results were tested by false-positive report probability (FPRP) and false discovery rate (FDR). The interaction among noteworthy SNPs and their predictive relationship with IS risk were explored using the Multi-Factor Dimensionality Reduction (MDR) software.ResultsThe results of Sanger sequencing were compared with the reference sequences on the NCBI website, and we found 14 SNPs in ITLN1 gene promoter satisfied Hardy-Weinberg equilibrium (HWE). Logistic regression analysis showed that ITLN1 was associated with a decreased risk of IS (rs6427553: Homozygous C/C: adjusted OR: 0.69, 95% CI [0.48-0.97]; Log-additive: adjusted OR: 0.83, 95% CI [0.70-0.98]; rs7411035: Homozygous G/G: adjusted OR: 0.66, 95% CI [0.47-0.94]; Dominant G/T-G/G: adjusted OR: 0.78, 95% CI [0.62-0.98]; Log-additive: adjusted OR: 0.81, 95% CI [0.69-0.96]; rs4656958: Heterozygous G/A: adjusted OR: 0.74, 95% CI [0.59-0.94]; Homozygous A/A: adjusted OR: 0.51, 95% CI [0.31-0.84]; Dominant G/A-A/A: adjusted OR: 0.71, 95% CI [0.57-0.89]; Recessive A/A: adjusted OR: 0.59, 95% CI [0.36-0.96]; Log-additive: adjusted OR: 0.73, 95% CI [0.61-0.88]), especially in people aged less than 60 years and males.ConclusionsIn short, our study revealed a correlation between ITLN1 variants (rs6427553, rs7411035 and rs4656958) and IS risk in Xi'an population, Shaanxi province, laying a foundation for ITLN1 gene as a potential biomarker for predicting susceptibility to IS.

Dataset Information

Association of single-nucleotide polymorphism on chromosome 9 and ischemic stroke in Heilongjiang province in China.

Publications

Association of single-nucleotide polymorphism on chromosome 9 and ischemic stroke in Heilongjiang province in China.

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