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Association study of BUD13-ZNF259 gene rs964184 polymorphism and hemorrhagic stroke risk.

ABSTRACT: We aimed to evaluate the association of rs964184 of BUD13-ZNF259 gene with the risk of hemorrhagic stroke (HS). A total of 138 HS cases and 587 controls were recruited for the association of rs964184 of BUD13-ZNF259 gene with the risk of HS. Tm shift PCR was used for genotyping. We were unable to find the association of rs964184 of BUD13-ZNF259 gene with the risk of HS (P>0.05). Significant difference was found in the TG level among the three genotypes (CC: 1.51±1.02; CG: 1.68±1.10; GG: 1.90±1.11, P=0.036). The TG level showed strong correlation with rs964184 genotypes (P=0.010, correlation=0.101). Significantly higher TC, HDL-C, and LDL-C levels were observed in the case group. And no difference was found in the TG, ApoA-I, ApoB. Our case-control study supported the significant association between rs964184 genotype and the blood TG concentration, although we were unable to find association between BUD13-ZNF259 rs964184 and the risk of HS in Han Chinese.

SUBMITTER: Zhou S

PROVIDER: S-EPMC4730020 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Association study of BUD13-ZNF259 gene rs964184 polymorphism and hemorrhagic stroke risk.

Zhou Shengjun S Zhao Jikuang J Wang Zhepei Z Li Keqin K Nie Sheng S Gao Feng F Sun Jie J Gao Xiang X Huang Yi Y

International journal of clinical and experimental medicine 20151215 12

We aimed to evaluate the association of rs964184 of BUD13-ZNF259 gene with the risk of hemorrhagic stroke (HS). A total of 138 HS cases and 587 controls were recruited for the association of rs964184 of BUD13-ZNF259 gene with the risk of HS. Tm shift PCR was used for genotyping. We were unable to find the association of rs964184 of BUD13-ZNF259 gene with the risk of HS (P>0.05). Significant difference was found in the TG level among the three genotypes (CC: 1.51±1.02; CG: 1.68±1.10; GG: 1.90±1.1 ...[more]

PMID: 26885234

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Project description:BackgroundDengue hemorrhagic fever (DHF) is a severe life-threatening form of dengue infection. Low platelet count is one of the characteristic clinical manifestations in patients with severe dengue. However, little is known about genetic factors in the host that cause low platelet count in patients with dengue.MethodsA previous genome-wide association study of hematological and biochemical traits identified single nucleotide polymorphisms (SNPs) associated with low platelet count in healthy subjects. To examine the possible association of these SNPs with DHF, 918 Thai patients with dengue [509 patients with DHF and 409 with dengue fever (DF)] were genotyped for five SNPs: rs5745568 in BAK1, rs6141 in THPO, rs6065 in GP1BA, rs739496 in SH2B3, and rs385893 in RCL1. In addition, rs4804803 in CD209, that has been reported to be associated with dengue infection, was also genotyped to examine if rs4804803 affects the association detected in this study.ResultsThe allele frequencies of each SNP were compared between the DHF and DF groups. Among the five SNPs, the G allele of rs5745568 in BAK1 was significantly associated with a risk for DHF [P = 0.006 and crude odd ratio (95 % confidence interval) = 1.32 (1.09-1.60)]. The association of this allele with DHF was also significant in a logistic regression analysis adjusted for age, sex, hospital (i.e., geographic region), immune status (i.e., primary or secondary infection), and virus serotype [P = 0.016 and adjusted odd ratio (95 % confidence interval) = 1.29 (1.05-1.58)]. The result was not influenced by rs4804803 [P = 0.0167 and adjusted OR (95 % CI) = 1.29 (1.05-1.58)]. No other SNPs including rs4804803 showed significant association.ConclusionsThe low-level constitutive production of platelets caused by the G allele of rs5745568 seems to increase the risk of bleeding in dengue infection. Our results suggest that BCL-2 homologous antagonist/killer (BAK) protein, encoded by BAK1, plays a crucial role in the pathogenesis of DHF.

Project description:BACKGROUND AND PURPOSE:Stroke is a multifactorial disease influenced by both genetic and environmental factors. The aim of this case-control study was to determine the association between ?-fibrinogen C148T (rs1800787) gene polymorphism and susceptibility to ischemic stroke (IS) in a North Indian population. METHODS:In the present case-control study, genotyping was performed using the PCR-RFLP (polymerase chain reaction-restriction fragment length polymorphism) method on 250 IS patients and 250 age- and sex-matched controls. Frequency distributions of genotypes and alleles were compared between the cases and controls by conditional logistic regression. RESULTS:Hypertension, diabetes, dyslipidemia, low socioeconomic status, and family history of stroke were found to be independent risk factors for IS. The mean age of the cases and controls was 52.83 ± 12.59 and 50.97 ± 12.70 years, respectively. Multivariate logistic regression analysis showed an independent association between ?-fibrinogen C148T (rs1800787) polymorphism and risk of IS in dominant (OR = 2.19; 95% CI 1.23-3.90; p = 0.007) and allelic (OR = 1.66; 95% CI 1.19-2.33; p = 0.002) models. Based on the Trial of Org 10172 in Acute Stroke Treatment (TOAST) classification, an independent association of small vessel disease with risk of IS was observed in the dominant (OR = 2.09; 95% CI 1.10-3.96; p = 0.02) and allelic (OR = 1.75; 95% CI 1.12-2.75; p = 0.01) models, and a significant association of cardioembolic stroke with risk of IS was seen in the allelic model (OR = 2.11; 95% CI 1.07-4.17; p = 0.02). All the genotype frequencies observed were in accordance with Hardy-Weinberg equilibrium in both cases and controls. CONCLUSION:The findings of the present study suggest that polymorphism in the C148T position of the ?-fibrinogen gene might be a risk factor for IS mainly for the small vessel disease stroke subtype in a North Indian population. Further, large prospective studies are required to confirm these findings.

Dataset Information

Association study of BUD13-ZNF259 gene rs964184 polymorphism and hemorrhagic stroke risk.

Publications

Association study of BUD13-ZNF259 gene rs964184 polymorphism and hemorrhagic stroke risk.

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