Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants

Xiao, Cheng; Li, Tongchuan; Wang, Honglian; Zhu, Dengna; Ma, Caiyun; Ma, Bingxiang; Wang, Yinghong; Zhang, Junyu; Guo, Luo; Wang, Lei; Liu, Yun; Chen, Shiting; Jiang, Ze D.; He, Lin; Zhu, Changlian; Xing, Qinghe

doi:10.1038/jhg.2010.127

Cited by 16 publications

(8 citation statements)

References 31 publications

(42 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Meanwhile, CP that was accompanied by mental retardation has the frequencies of 34.9% for CC, 48.8% for CT and 16.3% for TT. 7 Compared to other studies, it appears that the genotype frequency of the MTHFR C677T gene polymorphism in patients with cerebral palsy in Bandung was smaller compared to these studies in China and Australia. 7,13 However, compared to the studies in Israel, the frequency of the MTHFR C677T gene polymorphism in this study is greater.…”

Section: Discussionmentioning

confidence: 41%

See 1 more Smart Citation

Relationship Between C677t Methylenetetrahydrofolate Reductase Gene Polymorphism and Homocysteine in Cerebral Palsy

Gamayani

Machfoed

Idjradinata

et al. 2016

IJIHS

View full text Add to dashboard Cite

Objective: To observe the relationship between methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism and homocysteine levels in cerebral palsy (CP) children. Methods:This cross-sectional study was conducted in several hospitals, school for children with special needs, and rehabilitation centers in Bandung from March to November 2014, on children with CP aged 4-14 years who met the inclusion criteria. Genotyping was performed using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and direct sequencing. Homocysteine serum level was measured using chemiluminescent microparticle immunoassay (CMIA) method. Statistical analysis was conducted using t test. Results:In this study, 150 CP children had MTHFR C677T gene polymorphism with a frequency of 18%, consisting of TT homozygotes (4%), CT heterozygotes (14%), and T allele (11%. The mean serum level of homocysteine in CP with C677T MTHFR gene polymorphism was 8.22 (±1.89) µmol/L, higher than those without polymorphism (p=0.046). Conclusions:A relationship between MTHFR C677T gene polymorphism and homocysteine level in children with cerebral palsy is found in this study.

show abstract

Section: Discussionmentioning

confidence: 41%

“…A study conducted in China reported that there is a significant relationship between MTHFR C677T gene polymorphism and CP accompanied by severe mental retardation. 7 Human MTHFR is encoded by the MTHFR gene. This enzyme plays an important role in the metabolism of folate and homocysteine.…”

Section: Introductionmentioning

confidence: 99%

Relationship Between C677t Methylenetetrahydrofolate Reductase Gene Polymorphism and Homocysteine in Cerebral Palsy

Gamayani

Machfoed

Idjradinata

et al. 2016

IJIHS

View full text Add to dashboard Cite

show abstract

“…Cerebral palsy (CP) is a group of non-progressive motor impairment syndromes caused by lesions during early brain development that often include cognitive deficits and musculoskeletal dysfunction [1,2]. The prevalence of CP – around 2 to 3 cases per 1,000 live births – has been stable over the past 30 years [3].…”

Section: Introductionmentioning

confidence: 99%

The association between sex-related interleukin-6 gene polymorphisms and the risk for cerebral palsy

Chen

Zhang

et al. 2014

J Neuroinflammation

Self Cite

View full text Add to dashboard Cite

BackgroundThe relationship between genetic factors and the development of cerebral palsy (CP) has recently attracted much attention. Polymorphisms in the genes encoding proinflammatory cytokines have been shown to be associated with susceptibility to perinatal brain injury and development of CP. Interleukin-6 (IL-6) is a proinflammatory cytokine that plays a pivotal role in neonatal brain injury, but conflicting results have been reported regarding the association between IL-6 single nucleotide polymorphisms (SNPs) and CP. The purpose of this study was to analyze IL-6 gene polymorphisms and protein expression and to explore the role of IL-6 in the Chinese CP population.MethodsA total of 753 healthy controls and 713 CP patients were studied to detect the presence of five SNPs (rs1800796, rs2069837, rs2066992, rs2069840, and rs10242595) in the IL-6 locus. Of these, 77 healthy controls and 87 CP patients were selected for measurement of plasma IL-6 by Luminex assay. The SHEsis program was used to analyze the genotyping data. For all comparisons; multiple testing on each individual SNP was corrected by the SNPSpD program.ResultsThere were no differences in allele or genotype frequencies between the overall CP patients and controls among the five genetic polymorphisms. However, subgroup analysis found significant sex-related differences in allele and genotype frequencies. Differences were found between spastic CP and controls in males for rs2069837; between CP with periventricular leukomalacia and controls in males for rs1800796 and rs2066992; and between term CP and controls in males for rs2069837. Plasma IL-6 levels were higher in CP patients than in the controls, and this difference was more robust in full-term male spastic CP patients. Furthermore, the genotype has an effect on IL-6 synthesis.ConclusionsThe influence of IL-6 gene polymorphisms on IL-6 synthesis and the susceptibility to CP is related to sex and gestational age.

show abstract

“…Over 20 studies of CP have evaluated single nucleotide polymorphisms (SNPs) in genes that regulate the inflammatory and coagulation cascades, and polymorphisms in over 15 genes have been associated with CP (2–12). However, genetic association studies of CP have been hampered by multiple comparisons, small sample size and population heterogeneity, thus leading to inconsistent findings (3, 12–14). …”

Section: Introductionmentioning

confidence: 99%

Candidate Genes and Risk for CP: A Population-Based Study

Croen

Vanderwerf

et al. 2011

Pediatr Res

View full text Add to dashboard Cite

Studies suggest genetic polymorphisms may increase an individual’s susceptibility to CP. Most findings have yet to be corroborated in an independent cohort. This case-control study is nested within all 334,333 infants ≥ 36 weeks gestation born at Kaiser Permanente Medical Care Program, 1991–2002. We included only non-Hispanic whites who had a neonatal blood sample available. Case patients (N=138) were identified from medical records to have spastic or dyskinetic CP. Controls (N=165) were randomly selected from the population. We genotyped polymorphisms previously associated with CP: inducible nitric oxide synthase (iNOS) -231, apolipoprotein E (apoE) ε2 and ε4 alleles, tumor necrosis factor-α -308, interleukin-8 -251, lymphotoxin 60, endothelial nitric oxide synthase -922, endothelial protein C receptor 219, mannose binding lectin 54 and 52, factor V Leiden, methyltetrahydrofolate reductase 1298 and 667, prothrombin 20210, and platelet activator inhibitor 11053. Similar to previous reports, the iNOS -231 T allele (25.7% vs. 18.9%, P=0.04) and the apoE ε4 allele (19.3% vs. 13.2%, P=0.04) were more common in patients with CP than in controls. However, there was no statistically significant association between any genetic polymorphism and CP after correction for multiple comparisons.

show abstract

Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants

Cited by 16 publications

References 31 publications

Relationship Between C677t Methylenetetrahydrofolate Reductase Gene Polymorphism and Homocysteine in Cerebral Palsy

Relationship Between C677t Methylenetetrahydrofolate Reductase Gene Polymorphism and Homocysteine in Cerebral Palsy

The association between sex-related interleukin-6 gene polymorphisms and the risk for cerebral palsy

Candidate Genes and Risk for CP: A Population-Based Study

Contact Info

Product

Resources

About