Association of NOS1 gene polymorphisms with cerebral palsy in a Han Chinese population: a case-control study

Yu, Ting; Xia, Lei; Bi, Dingren; Wang, Yangong; Shang, Qing; Zhu, Dengna; Shi, Juan; Wang, Yong; Wang, Xiaoyang; Zhu, Changlian; Xing, Qinghe

doi:10.1186/s12920-018-0374-6

Cited by 9 publications

(11 citation statements)

References 50 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, many studies omitted the information needed to assess the reliability of ascertainment of CP, including age range at diagnosis and average age at recruitment, or as pertinent to the SCPE whether the child was ‘at least 4 years old when assessed’ 13 . Ten studies (18%) erroneously stated that they were compliant with the SCPE guidelines whereas the details on age at recruitment (Table S1) indicated that they were not, in the absence of any statement regarding confirmation of the diagnosis from the age of 4 years 21–30 . A third of studies ( n =19) documented an evaluation of activity limitation; however, a standard measure (i.e.…”

Section: Resultsmentioning

confidence: 99%

“…13 Ten studies (18%) erroneously stated that they were compliant with the SCPE guidelines whereas the details on age at recruitment (Table S1) indicated that they were not, in the absence of any statement regarding confirmation of the diagnosis from the age of 4 years. [21][22][23][24][25][26][27][28][29][30] A third of studies (n=19) documented an evaluation of activity limitation; however, a standard measure (i.e. Gross Motor Function Classification System) was undertaken in only 12 of these 19 studies (Table S3).…”

Section: Adequacy Of Reportingmentioning

confidence: 99%

See 1 more Smart Citation

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

Pham

Mol

Gécz

et al. 2020

Develop Med Child Neuro

View full text Add to dashboard Cite

Aim To conduct a systematic review of phenotypic definition and case ascertainment in published genetic studies of cerebral palsy (CP) to inform guidelines for the reporting of such studies. Method Inclusion criteria comprised genetic studies of candidate genes, with CP as the outcome, published between 1990 and 2019 in the PubMed, Embase, and BIOSIS Citation Index databases. Results Fifty‐seven studies met the inclusion criteria. We appraised how CP was defined, the quality of information on case ascertainment, and compliance with international consensus guidelines. Seven studies (12%) were poorly described, 33 studies (58%) gave incomplete information, and 17 studies (30%) were well described. Missing key information precluded determining how many studies complied with the definition by Rosenbaum et al. Only 18 out of 57 studies (32%) were compliant with the Surveillance of Cerebral Palsy in Europe (SCPE) international guidelines on defining CP. Interpretation Limited compliance with international consensus guidelines on phenotypic definition and mediocre reporting of CP case ascertainment hinders the comparison of results among genetic studies of CP (including meta‐analyses), thereby limiting the quality, interpretability, and generalizability of study findings. Compliance with the SCPE guidelines is important for ongoing gene discovery efforts in CP, given the potential for misclassification of unrelated neurological conditions as CP.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Adequacy Of Reportingmentioning

confidence: 99%

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

Pham

Mol

Gécz

et al. 2020

Develop Med Child Neuro

View full text Add to dashboard Cite

show abstract

“…The gene is mapped to chromosomal region 12q24. Several studies indicate that NOS1 variants are associated with such disorders as Alzheimer's disease (Mishizen-Eberz et al, 2004), schizophrenia (Shinkai et al, 2002;Saadat, 2010), and Parkinson's disease (Hancock et al, 2008;Yu et al, 2018). Using reverse-transcription polymerase chain reaction (RT-PCR), some authors (Freudenberg et al, 2015) demonstrated that protein expression of NOS1 is constitutively high in ovarian cancer cell lines and that mRNA expression of NOS1 varies among such cell lines.…”

Section: Introductionmentioning

confidence: 99%

An experimental study of the effects of SNPs in the TATA boxes of the <i>GRIN1, ASCL3</i> and <i>NOS1</i> genes on interactions with the TATA-binding protein

et al. 2022

View full text Add to dashboard Cite

The GRIN1, ASCL3, and NOS1 genes are associated with various phenotypes of neuropsychiatric disorders. For instance, these genes contribute to the development of schizophrenia, Alzheimer’s and Parkinson’s diseases, and epilepsy. These genes are also associated with various cancers. For example, ASCL3 is overexpressed in breast cancer, and NOS1, in ovarian cancer cell lines. Based on our findings and literature data, we had previously obtained results suggesting that the single-nucleotide polymorphisms (SNPs) that disrupt erythropoiesis are highly likely to be associated with cognitive and neuropsychiatric disorders in humans. In the present work, using SNP_TATA_Z-tester, we investigated the influence of unannotated SNPs in the TATA boxes of the promoters of the GRIN1, ASCL3, and NOS1 genes (which are involved in neuropsychiatric disorders and cancers) on the interaction of the TATA boxes with the TATA-binding protein (TBP). Double-stranded oligodeoxyribonucleotides identical to the TATA-containing promoter regions of the GRIN1, ASCL3, and NOS1 genes (reference and minor alleles) and recombinant human TBP were employed to study in vitro (by an electrophoretic mobility shift assay) kinetic characteristics of the formation of TBP–TATA complexes and their affinity. It was found, for example, that allele A of rs1402667001 in the GRIN1 promoter increases TBP–TATA affinity 1.4-fold, whereas allele C in the TATA box of the ASCL3 promoter decreases the affinity 1.4-fold. The lifetime of the complexes in both cases decreased by ~20 % due to changes in the rates of association and dissociation of the complexes (ka and kd, respectively). Our experimental results are consistent with the literature showing GRIN1 underexpression in schizophrenic disorders as well as an increased risk of cervical, bladder, and kidney cancers and lymphoma during ASCL3 underexpression. The effect of allele A of the –27G>A SNP (rs1195040887) in the NOS1 promoter is suggestive of an increased risk of ischemic damage to the brain in carriers. A comparison of experimental TBP–TATA affinity values (KD) of wild-type and minor alleles with predicted ones showed that the data correlate well (linear correlation coefficient r = 0.94, p < 0.01).

show abstract

“…In general, CP is regarded as the result of the combined effects of multiple genes and environmental factors. Moreover, CP has been reported to have multiple susceptibility genes, including IL-6, NOS1, OLIG2, ATG5, and ATG7 (Xu et al, 2017;Yu et al, 2018;Sun et al, 2019;Xia et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

The Association Study of IL-23R Polymorphisms With Cerebral Palsy in Chinese Population

Wang

Fan

et al. 2020

Front. Neurosci.

Self Cite

View full text Add to dashboard Cite

Background: Cerebral palsy (CP) is a syndrome of non-progressive motor dysfunction caused by early brain development injury. Recent evidence has shown that immunological abnormalities are associated with an increased risk of CP.Methods: We recruited 782 children with CP as the case group and 770 healthy children as the control group. The association between IL-23R single nucleotide polymorphisms (SNPs; namely, rs10889657, rs6682925, rs1884444, rs17375018, rs1004819, rs11805303, and rs10889677) and CP was studied by using a case–control method and SHEsis online software. Subgroup analysis based on complications and clinical subtypes was also carried out.Results: There were differences in the allele and genotype frequencies between CP cases and controls at the rs11805303 and rs10889677 SNPs (Pallele = 0.014 and 0.048, respectively; Pgenotype = 0.023 and 0.008, respectively), and the difference in genotype frequency of rs10889677 remained significant after Bonferroni correction (Pgenotype = 0.048). Subgroup analysis revealed a more significant association of rs10889677 with CP accompanied by global developmental delay (Pgenotype = 0.024 after correction) and neonatal encephalopathy (Pgenotype = 0.024 after correction).Conclusion: The present results showed a significant association between IL-23R and CP, suggesting that IL-23R may play a potential role in CP pathogenesis.

show abstract

Association of NOS1 gene polymorphisms with cerebral palsy in a Han Chinese population: a case-control study

Cited by 9 publications

References 50 publications

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

Definition and diagnosis of cerebral palsy in genetic studies: a systematic review

An experimental study of the effects of SNPs in the TATA boxes of the <i>GRIN1, ASCL3</i> and <i>NOS1</i> genes on interactions with the TATA-binding protein

The Association Study of IL-23R Polymorphisms With Cerebral Palsy in Chinese Population

Contact Info

Product

Resources

About