The association of apolipoprotein E gene polymorphisms with cerebral palsy in Chinese infants

Xu, Yiran; Wang, Honglian; Sun, Yanyan; Shang, Qing; Chen, Mingjie; Li, Tongchuan; Zhu, Dengna; He, Lin; Zhu, Changlian; Xing, Qinghe

doi:10.1007/s00438-014-0818-4

Cited by 15 publications

(9 citation statements)

References 36 publications

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“…Originally hypothesized to be protective, studies have reported a higher rate of the ApoE4 allele among children with CP compared with a community sample, 26 while other studies reported that certain ApoE haplotypes appear protective against CP. 27 Among children with CP, the ApoE4 allele was associated with a worse clinical phenotype in one study, 28 but not confirmed in others. 29,30 An additional study found evidence of risk associated with ApoE alleles E2 and E3.…”

Section: Apoementioning

confidence: 89%

The genetic basis of cerebral palsy

Fahey

MacLennan

Kretzschmar

et al. 2017

Develop Med Child Neuro

158

123

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Although prematurity and hypoxic-ischaemic injury are well-recognized contributors to the pathogenesis of cerebral palsy (CP), as many as one-third of children with CP may lack traditional risk factors. For many of these children, a genetic basis to their condition is suspected. Recent findings have implicated copy number variants and mutations in single genes in children with CP. Current studies are limited by relatively small patient numbers, the underlying genetic heterogeneity identified, and the paucity of validation studies that have been performed. However, several genes mapping to intersecting pathways controlling neurodevelopment and neuronal connectivity have been identified. Analogous to other neurodevelopmental disorders such as autism and intellectual disability, the genomic architecture of CP is likely to be highly complex. Although we are just beginning to understand genetic contributions to CP, new insights are anticipated to serve as a unique window into the neurobiology of CP and suggest new targets for intervention.

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Section: Apoementioning

confidence: 89%

The genetic basis of cerebral palsy

Fahey

MacLennan

Kretzschmar

et al. 2017

Develop Med Child Neuro

158

123

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“…Apart from that, haploview software was used for investigating the linkage disequilibrium and the haplotype blocks [25]. SHESIS program was implemented to construct haplotypes and evaluate the relationship between constructed haplotypes and DTC risk [26]. We also assessed multiplicative gene-gene interactions using joint effect models and all significance levels were set at P < 0.05.…”

Section: Discussionmentioning

confidence: 99%

Association Studies Between XRCC1, XRCC2, XRCC3 Polymorphisms and Differentiated Thyroid Carcinoma

Yan¹,

Li²,

Li³

et al. 2016

Cell Physiol Biochem

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Background/Aims: DNA HRR pathway and BER pathway play vital roles in differentiated thyroid cancer (DTC) development, thus we supposed that polymorphisms of XRCC1, XRCC2, XRCC3 DNA repair genes are associated with thyroid cancer risk and progression. Methods: We searched the NCBI database for relevant literatures to determine eight SNPs to be included in our study (XRCC1: rs25487, rs25489, rs1799782; XRCC2: rs3218536; XRCC3: rs1799794, rs56377012, rs1799796, rs861539). Results: SNP of rs25487 was linked with a 53% decrease in DTC risk (OR: 0.47; 95%CI: 0.268-0.82; P = 0.01). For SNP of rs1799782, the homozygous TT genotype indicated a statistically significant 2-fold increased risk of DTC (OR: 2.09; 95%CI: 1.27-3.43; P < 0.001) after multivariate adjustment. For SNP of rs861539, the homozygous TT genotype suggested statistically significant 3-fold increased risk of DTC (OR: 3.02; 95%CI: 1.68-5.42; P < 0.001). No significant association between the other five SNPs and DTC risk. Besides that, female was linked with 47% increase in DTC risk (OR: 1.47; 95%CI: 1.062-2.04; P = 0.02) after multivariate adjustment. Similar results for most of the SNPs were obtained from subgroup analysis by different histological types of DTC. Haplotype analysis revealed that AGC and GGT haplotypes of XRCC1 polymorphisms were associated with DTC. Moreover, results from gene-gene interaction showed that XRCC1-rs25487, XRCC1- rs1799782 and XRCC3- rs861539 variants jointly contributed to a specifically increased risk of DTC, with the combination variant of rs1799782-CT heterozygote and rs861539-TT homozygote exhibiting a higher 3.66-fold risk of DTC (OR: 3.66; 95% CI: 1.476-9.091, P = 0.005). Conclusion: Polymorphisms of XRCC1 (rs25487, rs1799782) and XRCC3 (rs861539), may play a critical role in DTC development and progression. Furthermore, XRCC1 variant can interact with XRCC3 variant to significantly increase DTC susceptibility. Identifying these genetic risk markers could provide evidence for exploring the insight pathogenesis and develop novel therapeutic strategies for DTC.

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“…In children with CP, clinical observations have been proposed suggesting an unfavorable phenotypic effect regarding the ApoE ԑ4 allele and a protective effect of the ApoE ԑ2 and ԑ3 alleles. 25,26 On the contrary, negative effects of the ԑ4 allele has not been proven with subsequent studies in CP children. 27 In the current study, we aimed to readdress ApoE allelic variants and their role in CP etiology in a small Turkish cohort of CP patients in the light of demographic patient data, perinatal variables, CP-accompanying clinical conditions and neuroimaging findings.…”

mentioning

confidence: 94%

Apolipoprotein E allelic variants and cerebral palsy

Gümüş¹,

Aras²,

Çilingir³

et al. 2018

Turk J Pediatr

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Cerebral palsy (CP) is the most frequent cause of mobility restriction and posture disturbance in childhood. Against the complexity in disease etiology, genetic factors, including Apolipoprotein E allelic distribution in this patient population, are worthy targets for investigation. ApoE is a lipoprotein of central nervous system encoded by ApoE gene with its 3 main co-dominant alleles, 2, 3 and 4. We aimed to evaluate the allelic frequencies of ApoE gene and its association with coexisting clinical entities such as vision and hearing impairment, cognitive problems, seizures and MRI findings in a pediatric patient population native to middle Anatolian region. Seventy-eight children with CP and 60 healthy controls were genotyped. Genotypic variations along with coexisting clinical conditions and CP-related medical findings were compared between the patient and control groups. The Denver Developmental Screening Test for all, the Wechsler Intelligence Scale for Children-IV (short form WISC-IV; Turkish version) for the patients >6y and the Stanford-Binet Intelligence Scale (SB-5) for those who aged 2-6 years old were employed to evaluate cognitive and mental abilities of the patients. ApoE 2 and 4 alleles were more frequent in the patient group (p<0.05), whereas ApoE 3 allele was more frequent in the healthy controls. ApoE 2/4 genotype has been determined 29% in the case group, but none in healthy control group. In the patient group with apolipoprotein 4 or 2 alleles, the rate of emergency cesarean section was found being significantly higher than the group with 3 allele. Brain MRI findings were not significantly different among ApoE allelic variants within the patient group. Our data show that the ApoE alleles may be effective in the development of cerebral palsy and may be associated with some clinical manifestations in those patients.

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The association of apolipoprotein E gene polymorphisms with cerebral palsy in Chinese infants

Cited by 15 publications

References 36 publications

The genetic basis of cerebral palsy

The genetic basis of cerebral palsy

Association Studies Between XRCC1, XRCC2, XRCC3 Polymorphisms and Differentiated Thyroid Carcinoma

Apolipoprotein E allelic variants and cerebral palsy

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