Evidence for association between single nucleotide polymorphisms in T complex protein 1 gene and schizophrenia in the Chinese Han population

Ms, Yang; Yu, Liang; Guo, Tao; Sm, Zhu; Hj, Liu; Shi, Yong; Gu, Ning; Gy, Feng; He, Lin

doi:10.1136/jmg.2003.011023

Cited by 11 publications

(5 citation statements)

References 37 publications

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“…In order to detect the reliability of our platform, we evaluated it with several published scientific papers [2][3][4][5][6] and obtained exactly the same result but very robust rate. Compared with the tools used in cited papers [2][3][4][5][6], our platform shows the advantage of easier handling and the capability of analyzing complicated data.…”

Section: Resultsmentioning

confidence: 99%

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SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci

2005

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In multiloci-based genetic association studies of complex diseases, a powerful and high efficient tool for analyses of linkage disequilibrium (LD) between markers, haplotype distributions and many chi-square/p values with a large number of samples has been sought for long. In order to achieve the goal of obtaining meaningful results directly from raw data, we developed a robust and user-friendly software platform with a series of tools for analysis in association study with high efficiency. The platform has been well evaluated by several sets of real data.

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Section: Resultsmentioning

confidence: 99%

“…Compared with the tools used in cited papers [2][3][4][5][6], our platform shows the advantage of easier handling and the capability of analyzing complicated data. Therefore, it could become a powerful and useful tool for studies of complex diseases in the near future.…”

Section: Resultsmentioning

confidence: 99%

SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci

2005

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“…Connections between TCP1 and schizophrenia are tenuous. TCP1 is a molecular chaperone thought to be associated with schizophrenia in a Han Chinese population 21 , but a follow-up attempt to replicate the result failed 22 . TCP1 was also reported to be significantly downregulated in a small comparison of schizophrenic and healthy postmortem brain samples 23 .…”

Section: Resultsmentioning

confidence: 99%

Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness

et al. 2016

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A current focus in psychiatric genetics is detection of multiple common risk alleles through very large GWAS analyses. Yet families do exist, albeit rare, that have multiple affected members who are presumed to have a similar inherited cause to their illnesses. We hypothesized that within some of these families there may be rare highly penetrant mutations that segregate with illness. In this exploratory study, the genomes of ninety individuals across nine families were sequenced. Each family included a minimum of three available relatives affected with a psychotic illness and three available unaffected relatives. Twenty-six variants were identified that are private to a family, alter protein sequence, and are transmitted to all affected individuals within the family. In one family, seven siblings with schizophrenia spectrum disorders each carry a novel private missense variant within the SHANK2 gene. This variant lies within the consensus SH3 protein-binding motif by which SHANK2 may interact with post-synaptic glutamate receptors. In another family, four affected siblings and their unaffected mother each carry a novel private missense variant in the SMARCA1 gene on the X chromosome. Both variants represent candidates that may be causal for psychotic disorders when considered in the context of their transmission pattern and known gene and disease biology.

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“…TCP1 , located at 6q25.3, encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex, also known as the TCP1 ring complex 37 , which has been shown to interact with and structurally fold actin and tubulin 38 . Several studies have indicated that TCP1 might contribute to neuropathological abnormalities, such as Down syndrome 39 40 , Alzheimer's disease 41 and schizophrenia 42 , however, little is known about the correlation between TCP1 and KD, which needs more research in the future. Another SNP replicated in our study, rs1801274, which is a functional polymorphism in FCGR2A gene, encodes the H131R substitution.…”

Section: Discussionmentioning

confidence: 99%

Systematic Confirmation Study of GWAS-Identified Genetic Variants for Kawasaki Disease in A Chinese Population

Lou

Zhong

Shen

et al. 2015

Sci Rep

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Genome-wide association studies (GWASs) have identified multiple single nucleotide polymorphisms (SNPs) associated with Kawasaki disease (KD). In this study, we replicated the associations of 10 GWAS-identified SNPs with KD in a Han Chinese population. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression, and cumulative effect of non-risk genotypes were also performed. Although none of the SNPs reached the corrected significance level, 4 SNPs showed nominal associations with KD risk. Compared with their respective wild type counterparts, rs1801274 AG+GG genotypes and rs3818298 TC+CC genotypes were nominally associated with the reduced risk of KD (OR = 0.77, 95% CI = 0.59–0.99, P = 0.045; OR = 0.74, 95% CI = 0.56–0.98, P = 0.038). Meanwhile, rs1801274 GG genotype, rs2736340 CC genotype or rs4813003 TT genotype showed a reduced risk trend (OR = 0.57, 95% CI = 0.35–0.93, P = 0.024; OR = 0.46, 95% CI = 0.26–0.83, P = 0.010; OR = 0.64, 95% CI = 0.43–0.94, P = 0.022), compared with rs1801274 AG+AA genotypes, rs2736340 CT+TT genotypes or rs4813003 TC+CC genotypes, respectively. Furthermore, a cumulative effect was observed with the ORs being gradually decreased with the increasing accumulative number of non-risk genotypes (Ptrend<0.001). In conclusion, our study suggests that 4 GWAS-identified SNPs, rs2736340, rs4813003, rs3818298 and rs1801274, were nominally associated with KD risk in a Han Chinese population individually and jointly.

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Evidence for association between single nucleotide polymorphisms in T complex protein 1 gene and schizophrenia in the Chinese Han population

Cited by 11 publications

References 37 publications

SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci

SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci

Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness

Systematic Confirmation Study of GWAS-Identified Genetic Variants for Kawasaki Disease in A Chinese Population

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