Association of SLC18A1, TPH1, and RELN gene polymorphisms with risk of paranoid schizophrenia

Galaktionova, D. Yu.; Гареева, А. Э.; Хуснутдинова, Э. К.; Наседкина, Т. В.

doi:10.1134/s0026893314030042

Cited by 19 publications

(10 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This group also successfully replicated the association in a sample from the United Kingdom. Recently, rs7341475 was described as associated with the risk of paranoid SCZ 27 . Another common variant (rs362719) of RELN was also identified to be associated with SCZ in female Han Chinese 28 , but the results of association studies between RELN and SCZ were not exactly replicable in different populations.…”

Section: Discussionmentioning

confidence: 99%

Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia

Zhou

Zhang

et al. 2016

Sci Rep

View full text Add to dashboard Cite

Schizophrenia (SCZ) is a serious psychiatric disease with strong heritability. Its complexity is reflected by extensive genetic heterogeneity and much of the genetic liability remains unaccounted for. We applied a combined strategy involving detection of copy number variants (CNVs), whole-genome mapping, and exome sequencing to identify the genetic basis of autosomal-dominant SCZ in a Chinese family. To rule out pathogenic CNVs, we first performed Illumina single nucleotide polymorphism (SNP) array analysis on samples from two patients and one psychiatrically healthy family member, but no pathogenic CNVs were detected. In order to further narrow down the susceptible region, we conducted genome-wide linkage analysis and mapped the disease locus to chromosome 7q21.13-22.3, with a maximum multipoint logarithm of odds score of 2.144. Whole-exome sequencing was then carried out with samples from three affected individuals and one unaffected individual in the family. A missense variation c.9575 C > G (p.Thr3192Ser) was identified in RELN, which is known as a risk gene for SCZ, located on chromosome 7q22, in the pedigree. This rare variant, as a highly penetrant risk variant, co-segregated with the phenotype. Our results provide genetic evidence that RELN may be one of pathogenic gene in SCZ.

show abstract

Section: Discussionmentioning

confidence: 99%

Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia

Zhou

Zhang

et al. 2016

Sci Rep

View full text Add to dashboard Cite

show abstract

“…An intronic single nucleotide polymorphism (SNP) rs1800532 T>G in TPH1 is associated with SZ. This SNP overlaps a putative transcription factor (TF) binding site and may affect pre‐mRNA processing, which could lead to expression differences (Galaktionova et al, ). Genotype AA of rs1800532 A>C in TPH1 is associated with SZ only in Tatars but not in Russians (Galaktionova et al, ).…”

Section: Serotonin Pathway Genes Associated With Szmentioning

confidence: 99%

“…This SNP overlaps a putative transcription factor (TF) binding site and may affect pre‐mRNA processing, which could lead to expression differences (Galaktionova et al, ). Genotype AA of rs1800532 A>C in TPH1 is associated with SZ only in Tatars but not in Russians (Galaktionova et al, ). TPH2 gene has a prominent role in 5‐HT pathway, as the TPH2 catalyzed conversion limits the overall rate of 5‐HT synthesis and thus affects 5‐HT levels.…”

Section: Serotonin Pathway Genes Associated With Szmentioning

confidence: 99%

“…Genes SLC18A1 and SLC6A4 are associated with SZ. Nonsynonymous substitution rs2270641 A>C in SLC18A1 is associated with paranoid SZ (Galaktionova et al, ). Gene SLC6A4 , also named 5‐HTT , is one of best studied SZ‐related genes and its association with mental disorders, including SZ, was frequently reported.…”

Section: Serotonin Pathway Genes Associated With Szmentioning

confidence: 99%

“…On the other hand, the probability of obtaining false positives is controlled by level of statistical significance α (Biau et al, ). The issue of inability to detect weaker associations is especially hampering for GWAS (Galaktionova et al, ). Due to heterogeneity of SZ, the ability to detect association of genetic variations with phenotypic outcomes may improve by grouping patients into smaller, more homogenous, phenotypic subsets (Yi et al, ).…”

Section: Challenges and Possible Solutions In Associating Genotype Wimentioning

confidence: 99%

See 2 more Smart Citations

Genetic variability of serotonin pathway associated with schizophrenia onset, progression, and treatment

Hrovatin

Kunej

Dolžan

2019

American J of Med Genetics Pt B

View full text Add to dashboard Cite

Schizophrenia (SZ) onset and treatment outcome have important genetic components, however individual genes do not have strong effects on SZ phenotype. Therefore, it is important to use the pathway-based approach and study metabolic and signaling pathways, such as dopaminergic and serotonergic. Serotonin pathway has an important role in brain signaling, nevertheless, its role in SZ is not as thoroughly examined as that of dopamine pathway. In this study, we reviewed serotonin pathway genes and genetic variations associated with SZ, including variations at DNA, RNA, and epigenetic level.We obtained 30 serotonin pathway genes from Kyoto encyclopedia of genes and genomes and used these genes for the literature review. We extracted 20 protein coding serotonin pathway genes with genetic variations associated with SZ onset, development, and treatment from 31 research papers. Genes associated with SZ are present on all levels of serotonin pathway: serotonin synthesis, transport, receptor binding, intracellular signaling, and reuptake; however, regulatory genes are poorly researched. We summarized common challenges of genetic association studies and presented some solutions. The analysis of reported serotonin pathway-SZ associations revealed lack of information about certain serotonin pathway genes potentially associated with SZ. Furthermore, it is becoming clear that interactions among serotonin pathway genes and their regulators may bring further knowledge about their involvement in SZ. K E Y W O R D Sgenetic association studies, genetic variations, pharamcogenetics, schizophrenia, serotonin pathway

show abstract

Relationship Between the rs7341475 Polymorphism and DNA Methylation in the Reelin Gene and Schizophrenia Symptoms

Алфимова

Kondratyev

Golov

et al. 2019

Neurosci Behav Physi

View full text Add to dashboard Cite

Association of SLC18A1, TPH1, and RELN gene polymorphisms with risk of paranoid schizophrenia

Cited by 19 publications

References 30 publications

Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia

Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia

Genetic variability of serotonin pathway associated with schizophrenia onset, progression, and treatment

Relationship Between the rs7341475 Polymorphism and DNA Methylation in the Reelin Gene and Schizophrenia Symptoms

Contact Info

Product

Resources

About