Delineating significant genome-wide associations of variants with antipsychotic and antidepressant treatment response: implications for clinical pharmacogenomics.

Abstract:

BACKGROUND:Genome-wide association studies (GWAS) have significantly contributed to the association of many clinical conditions and phenotypic characteristics with genomic variants. The majority of these genomic findings have been deposited to the GWAS catalog. So far, findings uncovering associations of single nucleotide polymorphisms (SNPs) with treatment efficacy in mood disorders are encouraging, but not adequate. METHODS:Statistical, genomic, and literature information was retrieved from EBI's GWAS catalog, while we also searched for potential clinical information/clinical guidelines in well-established pharmacogenomics databases regarding the assessed drug-SNP correlations of the present study. RESULTS:Here, we provide an overview of significant genome-wide associations of SNPs with the response to commonly prescribed antipsychotics and antidepressants. Up to date, this is the first study providing novel insight in previously reported pharmacogenomics associations for antipsychotic/antidepressant treatment. We also show that although there are published CPIC guidelines for antidepressant agents, as well as the FDA labels include genome-based drug prescription information for both antipsychotic and antidepressant treatments, there are no specific clinical guidelines for the assessed drug-SNP correlations of this study. CONCLUSIONS:Our present findings suggest that more effort should be implemented towards identifying GWA-significant antipsychotic and antidepressant pharmacogenomics correlations. Moreover, additional functional studies are required in order to characterise the potential role of the assessed SNPs as biomarkers for the response of patients to antipsychotic/antidepressant treatment.

journal_name

Hum Genomics

journal_title

Human genomics

authors

Koromina M,Koutsilieri S,Patrinos GP

doi

10.1186/s40246-019-0254-y

subject

Has Abstract

pub_date

2020-01-15 00:00:00

pages

4

issue

1

eissn

1473-9542

issn

1479-7364

pii

10.1186/s40246-019-0254-y

journal_volume

14

pub_type

杂志文章
  • A review of the 'Statistical Analysis for Genetic Epidemiology' (S.A.G.E.) software package.

    abstract::The 'Statistical Analysis for Genetic Epidemiology' (S.A.G.E.) software package is an integrated, comprehensive package of computer programs designed to perform many of the different analyses required in the study of genetic epidemiology. It offers a graphical user interface for most platforms and, unlike many program...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/1479-7364-1-6-456

    authors: Elston RC,Gray-McGuire C

    更新日期:2004-11-01 00:00:00

  • In silico toxicology models and databases as FDA Critical Path Initiative toolkits.

    abstract::In silico toxicology methods are practical, evidence-based and high throughput, with varying accuracy. In silico approaches are of keen interest, not only to scientists in the private sector and to academic researchers worldwide, but also to the public. They are being increasingly evaluated and applied by regulators. ...

    journal_title:Human genomics

    pub_type: 杂志文章,评审

    doi:10.1186/1479-7364-5-3-200

    authors: Valerio LG Jr

    更新日期:2011-03-01 00:00:00

  • Integration of association statistics over genomic regions using Bayesian adaptive regression splines.

    abstract::In the search for genetic determinants of complex disease, two approaches to association analysis are most often employed, testing single loci or testing a small group of loci jointly via haplotypes for their relationship to disease status. It is still debatable which of these approaches is more favourable, and under ...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/1479-7364-1-1-20

    authors: Zhang X,Roeder K,Wallstrom G,Devlin B

    更新日期:2003-11-01 00:00:00

  • Prediction of microbial communities for urban metagenomics using neural network approach.

    abstract:BACKGROUND:Microbes are greatly associated with human health and disease, especially in densely populated cities. It is essential to understand the microbial ecosystem in an urban environment for cities to monitor the transmission of infectious diseases and detect potentially urgent threats. To achieve this goal, the D...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/s40246-019-0224-4

    authors: Zhou G,Jiang JY,Ju CJ,Wang W

    更新日期:2019-10-22 00:00:00

  • Do epigenetic changes caused by commensal microbiota contribute to development of ocular disease? A review of evidence.

    abstract::There is evidence that genetic polymorphisms and environmentally induced epigenetic changes play an important role in modifying disease risk. The commensal microbiota has the ability to affect the cellular environment throughout the body without requiring direct contact; for example, through the generation of a pro-in...

    journal_title:Human genomics

    pub_type: 杂志文章,评审

    doi:10.1186/s40246-020-00257-5

    authors: Nayyar A,Gindina S,Barron A,Hu Y,Danias J

    更新日期:2020-03-13 00:00:00

  • Genetic association studies: web-based resources for effective screening and assessment of candidate genes and pathways.

    abstract::The increased availability of polymorphism resources for humans and high-throughput genotyping technologies account for the large number of genetic associations published every month. Resources that allow one to synthesise published data quickly and effectively are needed to keep up to date with such information. In a...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:

    authors: Soranzo N

    更新日期:2004-05-01 00:00:00

  • Mitochondrial DNA as a potential tool for early cancer detection.

    abstract::The recent surge in mitochondrial research has been driven by the identification of mitochondria-associated diseases and the role of mitochondria in apoptosis. Both of these aspects have identified mitochondrial analysis as a vital component of medical research. Moreover, mitochondria have been implicated in the proce...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/1479-7364-2-4-252

    authors: Parr RL,Dakubo GD,Thayer RE,McKenney K,Birch-Machin MA

    更新日期:2006-01-01 00:00:00

  • Conservation of the three-dimensional structure in non-homologous or unrelated proteins.

    abstract::In this review, we examine examples of conservation of protein structural motifs in unrelated or non-homologous proteins. For this, we have selected three DNA-binding motifs: the histone fold, the helix-turn-helix motif, and the zinc finger, as well as the globin-like fold. We show that indeed similar structures exist...

    journal_title:Human genomics

    pub_type: 杂志文章,评审

    doi:10.1186/1479-7364-6-10

    authors: Sousounis K,Haney CE,Cao J,Sunchu B,Tsonis PA

    更新日期:2012-08-02 00:00:00

  • Single nucleotide polymorphism genotyping by two colour melting curve analysis using the MGB Eclipse Probe System in challenging sequence environment.

    abstract::Probe and primer design for single nucleotide polymorphism (SNP) detection can be very challenging for A-T DNA-rich targets, requiring long sequences with lower specificity and stability, while G-C-rich DNA targets present limited design options to lower GC-content sequences only. We have developed the MGB Eclipse Pro...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/1479-7364-1-3-209

    authors: Belousov YS,Welch RA,Sanders S,Mills A,Kulchenko A,Dempcy R,Afonina IA,Walburger DK,Glaser CL,Yadavalli S,Vermeulen NM,Mahoney W

    更新日期:2004-03-01 00:00:00

  • Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration.

    abstract::Predictive tests for estimating the risk of developing late-stage neovascular age-related macular degeneration (AMD) are subject to unique challenges. AMD prevalence increases with age, clinical phenotypes are heterogeneous and control collections are prone to high false-negative rates, as many control subjects are li...

    journal_title:Human genomics

    pub_type: 杂志文章,多中心研究

    doi:10.1186/1479-7364-5-5-420

    authors: Hageman GS,Gehrs K,Lejnine S,Bansal AT,Deangelis MM,Guymer RH,Baird PN,Allikmets R,Deciu C,Oeth P,Perlee LT

    更新日期:2011-07-01 00:00:00

  • Identification of gross deletions in FBN1 gene by MLPA.

    abstract:BACKGROUND:Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a FBN1 mutation that can be identified by single-gene sequencing or gene-panel sequencing targeting FBN1. However, a small proportion of MFS patients ...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/s40246-018-0178-y

    authors: Yang H,Ma Y,Luo M,Zhao K,Zhang Y,Zhu G,Sun X,Luo F,Wang L,Shu C,Zhou Z

    更新日期:2018-10-04 00:00:00

  • Novel age-dependent targets in vestibular schwannomas.

    abstract:BACKGROUND:Schwannomas are the most common neurofibromatosis type 2 (NF2)-associated tumors with significant phenotypic heterogeneity in patients. The most severe subtype has an early and rapid progression and the mild type has a later onset and a less aggressive course. The aim of this study was to elucidate the under...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/1479-7364-8-10

    authors: Toren A,Reichardt JK,Andalibi A,Hsu NY,Doherty J,Slattery W,Mehrian-Shai R

    更新日期:2014-06-30 00:00:00

  • Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.

    abstract:BACKGROUND:Whole-exome sequencing (WES) over the last few years has been increasingly employed for clinical diagnosis. However, one caveat with its use is that it inevitably fails to detect disease-causative variants that occur within noncoding RNA genes. Our experience in identifying pathogenic variants in the noncodi...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/s40246-018-0135-9

    authors: Wang Y,Wu X,Du L,Zheng J,Deng S,Bi X,Chen Q,Xie H,Férec C,Cooper DN,Luo Y,Fang Q,Chen JM

    更新日期:2018-01-25 00:00:00

  • R and Bioconductor solutions for alternative splicing detection.

    abstract::The detection of alternative splicing using microarray technology involves multiple computational steps: normalisation, filtering, detection and visualisation. In this review, these analyses are approached using the R and Bioconductor open-source computation solution. There is some discussion on how to integrate diffe...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/1479-7364-4-2-131

    authors: Phang T

    更新日期:2009-12-01 00:00:00

  • Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity.

    abstract:BACKGROUND:Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number variation (CNV) at AMY1 on salivary amylase protein production are less well understood. The amylase...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/s40246-017-0097-3

    authors: Carpenter D,Mitchell LM,Armour JA

    更新日期:2017-02-20 00:00:00

  • Genetic variation in neurodegenerative diseases and its accessibility in the model organism Caenorhabditis elegans.

    abstract:BACKGROUND:Neurodegenerative diseases (NGDs) such as Alzheimer's and Parkinson's are debilitating and largely untreatable conditions strongly linked to age. The clinical, neuropathological, and genetic components of NGDs indicate that neurodegeneration is a complex trait determined by multiple genes and by the environm...

    journal_title:Human genomics

    pub_type: 杂志文章,评审

    doi:10.1186/s40246-017-0108-4

    authors: Wang YA,Kammenga JE,Harvey SC

    更新日期:2017-05-25 00:00:00

  • Informed consent and ethical re-use of African genomic data.

    abstract::Rapid advances in human genomic research are increasing the availability of genomic data for secondary analysis. Particularly in the case of vulnerable African populations, ethics and informed consent processes need to be transparent--both to ensure participant protection, as well as to share skills and to evolve best...

    journal_title:Human genomics

    pub_type: 信件

    doi:10.1186/s40246-014-0018-7

    authors: Wright GE,Adeyemo AA,Tiffin N

    更新日期:2014-10-22 00:00:00

  • Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides.

    abstract::The cytosine-guanine (CpG) dinucleotide has long been known to be a hotspot for pathological mutation in the human genome. This hypermutability is related to its role as the major site of cytosine methylation with the attendant risk of spontaneous deamination of 5-methylcytosine (5mC) to yield thymine. Cytosine methyl...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/1479-7364-4-6-406

    authors: Cooper DN,Mort M,Stenson PD,Ball EV,Chuzhanova NA

    更新日期:2010-08-01 00:00:00

  • Transcriptome analysis reveals manifold mechanisms of cyst development in ADPKD.

    abstract:BACKGROUND:Autosomal dominant polycystic kidney disease (ADPKD) causes progressive loss of renal function in adults as a consequence of the accumulation of cysts. ADPKD is the most common genetic cause of end-stage renal disease. Mutations in polycystin-1 occur in 87% of cases of ADPKD and mutations in polycystin-2 are...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/s40246-016-0095-x

    authors: de Almeida RM,Clendenon SG,Richards WG,Boedigheimer M,Damore M,Rossetti S,Harris PC,Herbert BS,Xu WM,Wandinger-Ness A,Ward HH,Glazier JA,Bacallao RL

    更新日期:2016-11-21 00:00:00

  • Ensemble genomic analysis in human lung tissue identifies novel genes for chronic obstructive pulmonary disease.

    abstract:BACKGROUND:Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) significantly associated with chronic obstructive pulmonary disease (COPD). However, many genetic variants show suggestive evidence for association but do not meet the strict threshold for genome-wide significance. ...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/s40246-018-0132-z

    authors: Morrow JD,Cho MH,Platig J,Zhou X,DeMeo DL,Qiu W,Celli B,Marchetti N,Criner GJ,Bueno R,Washko GR,Glass K,Quackenbush J,Silverman EK,Hersh CP

    更新日期:2018-01-15 00:00:00

  • Helicobacter pylori infection, serum pepsinogens as markers of atrophic gastritis, and leukocyte telomere length: a population-based study.

    abstract:BACKGROUND:Persistent infections that induce prolonged inflammation might negatively affect the leukocyte telomere length (LTL); however, the role in LTL of Helicobacter pylori (H. pylori) infection, which persistently colonizes the stomach, remains unknown. The study objective was to examine associations of sero-preva...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/s40246-019-0217-3

    authors: Muhsen K,Sinnreich R,Merom D,Nassar H,Cohen D,Kark JD

    更新日期:2019-07-22 00:00:00

  • Is the genomic translational pipeline being disrupted?

    abstract::The translational pipeline for genomic medicine has been well defined. However, as with any rapidly changing technology, innovations are difficult to predict leading to the potential to disrupt anticipated translation. Examples of potential disruptors such as laboratory-developed tests, direct-to-consumer testing, and...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/s40246-015-0032-4

    authors: Williams MS

    更新日期:2015-06-14 00:00:00

  • Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects.

    abstract:BACKGROUND:Several genome-wide association studies have identified single-nucleotide polymorphisms (SNPs), such as rs4409766, rs1004467, and rs3824755 in CYP17A1 and rs2021783 in CYP21A2, as new hypertension susceptibility genetic variants in the Chinese population. This study aimed to look into the relationship betwee...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/s40246-020-00286-0

    authors: Hou B,Jia X,Deng Z,Liu X,Liu H,Yu H,Liu S

    更新日期:2020-09-25 00:00:00

  • Identify Down syndrome transcriptome associations using integrative analysis of microarray database and correlation-interaction network.

    abstract:BACKGROUND:Long non-coding RNAs (lncRNAs) have previously been emerged as key players in a series of biological processes. Dysregulation of lncRNA is correlated to human diseases including neurological disorders. Here, we developed a multi-step bioinformatics analysis to study the functions of a particular Down syndrom...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/s40246-018-0133-y

    authors: Chen M,Wang J,Luo Y,Huang K,Shi X,Liu Y,Li J,Lai Z,Xue S,Gao H,Chen A,Chen D

    更新日期:2018-01-19 00:00:00

  • Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

    abstract:BACKGROUND:Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a nov...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/s40246-017-0124-4

    authors: Alsemari A,Al-Younes B,Goljan E,Jaroudi D,BinHumaid F,Meyer BF,Arold ST,Monies D

    更新日期:2017-11-14 00:00:00

  • Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.

    abstract:BACKGROUND:Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epilepsy is affected by many factors, approximately 20-30% of cases are caused by acquired conditions, but in the remaining cases, genetic factors play an important role. Early establishment of a specific diagnosis i...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/s40246-020-00294-0

    authors: Zhang L,Gao J,Liu H,Tian Y,Zhang X,Lei W,Li Y,Guo Y,Yu H,Yuan E,Liang L,Cui S,Zhang X

    更新日期:2020-12-07 00:00:00

  • Whole-genome approach implicates CD44 in cellular resistance to carboplatin.

    abstract::Carboplatin is a chemotherapeutic agent used in the management of many cancers, yet treatment is limited by resistance and toxicities. To achieve a better understanding of the genetic contribution to carboplatin resistance or toxicities, lymphoblastoid cell lines from 34 large Centre d'Etude du Polymorphisme Humain pe...

    journal_title:Human genomics

    pub_type: 杂志文章

    doi:10.1186/1479-7364-3-2-128

    authors: Shukla SJ,Duan S,Wu X,Badner JA,Kasza K,Dolan ME

    更新日期:2009-01-01 00:00:00

  • Major influence of repetitive elements on disease-associated copy number variants (CNVs).

    abstract::Copy number variants (CNVs) are important contributors to the human pathogenic genetic diversity as demonstrated by a number of cases reported in the literature. The high homology between repetitive elements may guide genomic stability which will give rise to CNVs either by non-allelic homologous recombination (NAHR) ...

    journal_title:Human genomics

    pub_type: 杂志文章,评审

    doi:10.1186/s40246-016-0088-9

    authors: Cardoso AR,Oliveira M,Amorim A,Azevedo L

    更新日期:2016-09-23 00:00:00

  • Pharmacogenetics of antidepressant response: an update.

    abstract::The past few decades have witnessed much progress in the field of pharmacogenetics. The identification of the genetic background that regulates the antidepressant response has benefited from these advances. This review focuses on the pharmacogenetics of the antidepressant response through the analysis and discussion o...

    journal_title:Human genomics

    pub_type: 杂志文章,评审

    doi:10.1186/1479-7364-3-3-257

    authors: Drago A,De Ronchi D,Serretti A

    更新日期:2009-04-01 00:00:00

  • Genome-wide approaches to understanding human ageing.

    abstract::The use of genomic technologies in biogerontology has the potential to greatly enhance our understanding of human ageing. High-throughput screens for alleles correlated with survival in long-lived people have uncovered novel genes involved in age-associated disease. Genome-wide longevity studies in simple eukaryotes a...

    journal_title:Human genomics

    pub_type: 杂志文章,评审

    doi:10.1186/1479-7364-2-6-422

    authors: Kaeberlein M

    更新日期:2006-06-01 00:00:00