scholarly journals A genetic locus for paranoia

2018 ◽  
Vol 14 (1) ◽  
pp. 20170694 ◽  
Author(s):  
Bernard Crespi ◽  
Silven Read ◽  
Iiro Salminen ◽  
Peter Hurd
Keyword(s):  
Genetic Model ◽  
Genetic Locus ◽  
Large Population ◽  
Autism Spectrum ◽  
Psychological Effects ◽  
Imprinted Genes ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Altered Expression ◽  
Schizophrenia Spectrum

The psychological effects of brain-expressed imprinted genes in humans are virtually unknown. Prader–Willi syndrome (PWS) is a neurogenetic condition mediated by genomic imprinting, which involves high rates of psychosis characterized by hallucinations and paranoia, as well as autism. Altered expression of two brain-expressed imprinted genes, MAGEL2 and NDN , mediates a suite of PWS-related phenotypes, including behaviour, in mice. We phenotyped a large population of typical individuals for schizophrenia-spectrum and autism-spectrum traits, and genotyped them for the single-nucleotide polymorphism rs850807, which is putatively functional and linked with MAGEL2 and NDN . Genetic variation in rs850807 was strongly and exclusively associated with the ideas of reference subscale of the schizophrenia spectrum, which is best typified as paranoia. These findings provide a single-locus genetic model for analysing the neurological and psychological bases of paranoid thinking, and implicate imprinted genes, and genomic conflicts, in human mentalistic thought.

scholarly journals DRD3 gene and striatum in autism spectrum disorder

2015 ◽  
Vol 206 (5) ◽  
pp. 431-432 ◽  
Author(s):  
Wouter G. Staal ◽  
Marieke Langen ◽  
Sarai van Dijk ◽  
Vincent T. Mensen ◽  
Sarah Durston
Keyword(s):  
Autism Spectrum Disorder ◽  
Single Nucleotide Polymorphism ◽  
Caudate Nucleus ◽  
Autism Spectrum ◽  
Stereotyped Behaviour ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Drd3 Gene ◽  
Spectrum Disorders ◽  
Nucleus Volume

SummaryA single-nucleotide polymorphism (SNP) of the DRD3 gene (rs167771) was recently associated with autism spectrum disorders (ASD). Different polymorphisms of rs167771 corresponded to varying degrees of stereotyped behaviour. As DRD3 receptors are relatively overexpressed in the striatum, we investigated whether striatal volume was related to these polymorphisms in autism. We assessed volumes of caudate nucleus and putamen in 86 participants with ASD (mean age 15.3 years). MANCOVA showed an association between alleles of the rs167771 SNP and the volume of striatal structures. Furthermore, greater caudate nucleus volume correlated with stereotyped behaviour. These findings support a relationship between DRD3 gene SNPs, striatum and stereotyped behaviour in ASD.

scholarly journals Successful Computational Prediction of Novel Imprinted Genes from Epigenomic Features

2010 ◽  
Vol 30 (13) ◽  
pp. 3357-3370 ◽  
Author(s):  
Chelsea M. Brideau ◽  
Kirsten E. Eilertson ◽  
James A. Hagarman ◽  
Carlos D. Bustamante ◽  
Paul D. Soloway
Keyword(s):  
Single Nucleotide Polymorphism Array ◽  
Computational Prediction ◽  
Imprinted Genes ◽  
Nucleotide Polymorphism ◽  
Specific Expression ◽  
Single Nucleotide ◽  
Rigorous Testing ◽  
Local Sequence ◽  
Allele Specific ◽  
Mouse Cells

ABSTRACT Approximately 100 mouse genes undergo genomic imprinting, whereby one of the two parental alleles is epigenetically silenced. Imprinted genes influence processes including development, X chromosome inactivation, obesity, schizophrenia, and diabetes, motivating the identification of all imprinted loci. Local sequence features have been used to predict candidate imprinted genes, but rigorous testing using reciprocal crosses validated only three, one of which resided in previously identified imprinting clusters. Here we show that specific epigenetic features in mouse cells correlate with imprinting status in mice, and we identify hundreds of additional genes predicted to be imprinted in the mouse. We used a multitiered approach to validate imprinted expression, including use of a custom single nucleotide polymorphism array and traditional molecular methods. Of 65 candidates subjected to molecular assays for allele-specific expression, we found 10 novel imprinted genes that were maternally expressed in the placenta.

scholarly journals Correlation between CTLA-4 gene rs221775A>G single nucleotide polymorphism and multiple sclerosis susceptibility. A meta-analysis

Open Medicine ◽  
2016 ◽  
Vol 11 (1) ◽  
pp. 264-269 ◽  
Author(s):  
Xiao Haibing ◽  
Cao Xu ◽  
Cai Jifu ◽  
Zeng Wenshuang ◽  
Li Ling ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Single Nucleotide Polymorphism ◽  
Genetic Model ◽  
Cytotoxic T Lymphocyte ◽  
Meta Analysis ◽  
Current Evidence ◽  
Nucleotide Polymorphism ◽  
China National Knowledge Infrastructure ◽  
Single Nucleotide ◽  
Multiple Sclerosis Susceptibility

AbstractObjectiveThe aim of this meta-analysis was to undertake a meta-analysis to evaluate the correlation between cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) gene rs221775 A>G single nucleotide polymorphism and the susceptibility of multiple sclerosis (MS) susceptibility.MethodPublished manuscripts about CTLA-4 gene rs221775A>G single nucleotide polymorphism and multiple sclerosis susceptibility were searched in the computerized bibliographic searches of Pubmed Embase and China National Knowledge Infrastructure (CNKI). Potential studies were screened and data for 5025 MS patients and 4706 controls from 20 publications were included. The association between CTLA-4 gene rs221775A>G single nucleotide polymorphism and multiple sclerosis susceptibility were demonstrated by odds ratio (OR) and 95% confidence interval (95%CI).ResultsThe pooled results showed no significant association between CTLA-4 gene rs221775A>G single nucleotide polymorphism and multiple sclerosis susceptibility for dominant genetic model [OR=1.02, 95%CI:0.90~1.05, (P=0.80)], homozygous genetic model [OR=0.85,95%CI:0.71 ~1.03,(P=0.10)] and recessive genetic model [OR=0.99,95% CI:0.89~1.10,(P=0.90)].ConclusionWith current evidence, CTLA-4 gene rs221775A>G single nucleotide polymorphism had no association with the susceptibility of multiple sclerosis

scholarly journals The single nucleotide polymorphism arg399gln rs25487 in XRCC1 gene is a breast cancer risk factor, but is not related to tp53 mutation status

Genetika ◽  
2020 ◽  
Vol 52 (3) ◽  
pp. 867-879
Author(s):  
Yalda Arghavanian ◽  
Mina Adampour ◽  
Nasser Pouladi ◽  
Nazanin Bagherlou ◽  
Hosseinpour Feizi ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Tp53 Mutation ◽  
Genetic Model ◽  
P Value ◽  
Nucleotide Polymorphism ◽  
Xrcc1 Gene ◽  
Single Nucleotide ◽  
Mutation Status

Genetic changes in DNA repair genes, such as X-ray cross-complementing group1 (XRCC1), can cause modifications in the capacity of damaged DNA repair and affect the risk of cancer. Several mutations in TP53, which is a tumor suppressor gene, have been associated with breast cancer. In this study, it is aimed to evaluate the association of genetic variation in XRCC1rs25487 single nucleotide polymorphism (SNP) with TP53 mutation and breast cancer risk. In this research, 200 breast cancer women and 200 controls from the Iranian-Azeri population, Iran, were enrolled. Genomic DNA was extracted from the whole blood of controls patients. PCR-RFLP was carried out to genotype all participants for XRCC1rs25487SNP. Determination of possible mutations of TP53 in exons 5,6,7, and 8 were performed on 30 cancerous breast tissues through sequencing the amplified fragments. Our results of the case-control study indicated that the GA genotype of XRCC1 gene in rs25487polymorphism has a significantly risk effect on the breast cancer in the dominant genetic model (OR: 1.580, 95% CI: (1.025-2.436); p-value =0.049) and also GA genotype of XRCC1 gene in rs25487polymorphism has a protective effect on breast cancer in overdominant genetic model (OR: 0.591, 95% CI (0.395-0.886), p-value = 0.014). Furthermore, genotypes of this SNP did not associate with the clinical specifications of the patients and P53 mutation status. Sequencing results showed the mutational spectrum of P53 in the studied cases. According to the results of this study, in some of the genetic models, XRCC1SNP appears to be a modulator of breast cancer risk in Iranian East-Azerbaijan women. However, there was no correlation between XRCC1SNP and TP53 mutation status of the tumor.

scholarly journals SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Christina Manning ◽  
Peter L. Hurd ◽  
Silven Read ◽  
Bernard Crespi
Keyword(s):  
Neurodevelopmental Disorders ◽  
Rare Variants ◽  
Large Population ◽  
Autism Spectrum ◽  
Psychological Effects ◽  
Speech And Language ◽  
Schizotypal Personality ◽  
Model Studies ◽  
Language Studies ◽  
Schizotypal Personality Questionnaire

Mutations affecting the synaptic-scaffold gene SHANK3 represent the most common genetic causes of autism with intellectual disability, accounting for about 1-2% of cases. Rare variants of this gene have also been associated with schizophrenia, and its deletion results in the autistic condition known as Phelan–McDermid syndrome. Despite the importance of SHANK3 as a paradigmatic gene mediating neurodevelopmental disorders, its psychological effects in nonclinical populations have yet to be studied. We genotyped the nonsynonymous, functional SHANK3 SNP rs9616915 in a large population of typical individuals scored for autism spectrum traits (the Autism Quotient, AQ) and schizotypy spectrum traits (the Schizotypal Personality Questionnaire, SPQ-BR). Males, but not females, showed significant genotypic effects for the SPQ-BR subscale associated with speech and language: Odd Speech. These findings, in conjunction with animal model studies showing vocalization and auditory effects of SHANK3 mutations, and studies indicating severe language alterations and speech-associated white matter tract abnormalities in Phelan–McDermid syndrome, suggest that SHANK3 differentially affects the development and expression of human language and speech. Imaging genetic and speech-language studies of typical individuals carrying different genotypes of rs9616915 should provide novel insights into the neurological and psychological bases of speech and language alterations among individuals with SHANK3 mutations and Phelan–McDermid syndrome.

scholarly journals Correlation between CDKAL1 rs10946398C>A single nucleotide polymorphism and type 2 diabetes mellitus susceptibility: A meta-analysis

2017 ◽  
Vol 12 (1) ◽  
pp. 501-509 ◽  
Author(s):  
Yunyi Liang ◽  
Yi Shu ◽  
Haizhao Luo ◽  
Riqiu Chen ◽  
Zhifu Zeng
Keyword(s):  
Type 2 Diabetes ◽  
Single Nucleotide Polymorphism ◽  
Type 2 Diabetes Mellitus ◽  
Genetic Model ◽  
Meta Analysis ◽  
Random Effect ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Statistical Heterogeneity

AbstractObjectiveThe purpose of this meta analysis was to assess the correlation between CDKAL1 rs10946398C>A single nucleotide polymorphism (SNP) and type 2 diabetes mellitus (T2DM) susceptibility by pooling the open published studies.MethodElectronic searching of PubMed, EMBASE, Medline, Cochrane, China Biology Medicine disc (CBM) and China National Knowledge Infrastructure (CNKI) databases were performed by two reviewers independently to collect the open published studies related to CDKAL1 rs10946398C>A single nucleotide polymorphism and T2DM susceptibility. The association between CDKAL1 rs10946398C>A single nucleotide polymorphism and T2DM susceptibility was expressed by odds ratio (OR) and the corresponding 95% confidence interval (95%CI).ResultsThirteen studies with a total of 13,966 T2DM and 14,274 controls were finally included for analysis in this meta-analysis. Of the included 13 publications, 2 studies were carried out in Europe, 8 in Asia, 2 in Africa and 1 in Latin America. Being significant statistical heterogeneity, the data was pooled through random effect model. In a dominant genetic model, there was significant correlation between CDKAL1 rs10946398C>A SNP and T2DM risk (OR=1.22, P<0.05). In a dominant genetic model people with CC or CA genotype had increased risk of developing T2DM; Because of statistical heterogeneity for the included studies in a recessive genetic model (AA+CA vs CC), the data was calculated by random effect method. The combined data showed people with AA or CA genotype had decreased risk of developing T2DM compared to CC genotype (OR=0.83, P<0.05); For a homozygous genetic model (CC vs AA), the OR was calculated through random effect model for statistical heterogeneity among the included 13 studies. The combined OR was 1.33 which indicated people with CC genotype had increased risk of developing T2DM.ConclusionAccording to the present results, CDKAL1 rs10946398C>A single nucleotide polymorphism had correlation with the susceptibility of type 2 diabetes mellitus.

scholarly journals Association of the rs7903146 single nucleotide polymorphism at the Transcription Factor 7-like 2 (TCF7L2) locus with type 2 diabetes in Brazilian subjects

2012 ◽  
Vol 56 (8) ◽  
pp. 479-484 ◽  
Author(s):  
Gustavo Barcelos Barra ◽  
Ludmila Alves Sanches Dutra ◽  
Sílvia Conde Watanabe ◽  
Patrícia Godoy Garcia Costa ◽  
Patrícia Sales Marques da Cruz ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Odds Ratio ◽  
Genetic Model ◽  
University Hospital ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Specific Pcr ◽  
Allele Specific ◽  
Allele Specific Pcr

OBJECTIVE:To investigate the association of the T allele of the single nucleotide polymorphism (SNP) rs7903146 of TCF7L2 with the occurrence of T2D in a sample of subjects followed up at the Brasilia University Hospital. SUBJECTS AND METHODS: The SNP rs7903146 of TCF7L2 was genotyped by allele-specific PCR in 113 patients with known T2D and in 139 non-diabetic controls in Brasilia, Brazil. RESULTS:We found that the T allele of the SNP rs7903146 of TCF7L2 was significantly associated with T2D risk (odds ratio of 3.92 for genotype TT in the recessive genetic model, p = 0.004 and 1.5 for T allele, p = 0.032). CONCLUSION:These results reinforce previous findings on the consistent association of this genetic factor and the risk of T2D in populations of diverse ethnic backgrounds. Arq Bras Endocrinol Metab. 2012;56(8):479-84

scholarly journals Association of BCL2 polymorphisms and the IL19 single nucleotide polymorphism rs2243188 with systemic lupus erythematosus

2021 ◽  
Vol 49 (5) ◽  
pp. 030006052110191
Author(s):  
Weijie Wang ◽  
Xinchang Wang ◽  
Kepeng Yang ◽  
Yongsheng Fan
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Single Nucleotide Polymorphism ◽  
Lupus Erythematosus ◽  
Genetic Model ◽  
Clinical Symptoms ◽  
B Cell Lymphoma ◽  
Nucleotide Polymorphism ◽  
Systemic Lupus ◽  
Single Nucleotide ◽  
Significant Difference

Objective Abnormal B cell lymphoma-2 (Bcl-2) and interleukin-19 (IL-19) expression is closely related to systemic lupus erythematosus (SLE) pathogenesis. We aimed to determine whether BCL2 polymorphisms and a single nucleotide polymorphism (SNP) of IL19 are significantly associated with SLE susceptibility and if this is affected by synergism between IL19 and BCL2 genotypes. Methods This observational cohort study randomly enrolled 150 patients with SLE and 150 healthy controls. Major BCL2 and IL19 allele and genotype distributions were examined in the two groups. The IL19 SNP rs2243188 was determined using the TaqMan-MGB probe method. The synergistic effect between BCL2 and IL19 and clinical symptoms of SLE was also analyzed. Results The distribution of major BCL2 genotypes and common BCL2 alleles, especially for genotypes 191, 193, and 197, differed significantly between patients and controls. A significant difference in the dominant genetic model was also observed between groups, but not in the recessive model. The risk of disease in individuals who carried both 195-bp BCL2 and 138-bp IL19 susceptibility alleles was higher than in those carrying either allele alone. Conclusions This preliminary study suggested that BCL2 polymorphisms and the IL19 SNP rs2243188 are closely related to the pathogenesis of SLE.

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