Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.

Abstract:

:The aim of this study was to explore candidate single nucleotide polymorphisms (SNPs) and candidate mechanisms of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Two SLE genome-wide association studies (GWASs) datasets were included in this study. Meta-analysis was conducted using 737,984 SNPs in 1,527 SLE cases and 3,421 controls of European ancestry, and 4,429 SNPs that met a threshold of p < 0.01 in a Korean RA GWAS dataset was used. ICSNPathway (identify candidate causal SNPs and pathways) analysis was applied to the meta-analysis results of the SLE GWAS datasets, and a RA GWAS dataset. The most significant result of SLE GWAS meta-analysis concerned rs2051549 in the human leukocyte antigen (HLA) region (p = 3.36E-22). In the non-HLA region, meta-analysis identified 6 SNPs associated with SLE with genome-wide significance (STAT4, TNPO3, BLK, FAM167A, and IRF5). ICSNPathway identified five candidate causal SNPs and 13 candidate causal pathways. This pathway-based analysis provides three hypotheses of the biological mechanism involved. First, rs8084 and rs7192 → HLA-DRA → bystander B cell activation. Second, rs1800629 → TNF → cytokine network. Third, rs1150752 and rs185819 → TNXB → collagen metabolic process. ICSNPathway analysis identified three candidate causal non-HLA SNPs and four candidate causal pathways involving the PADI4, MTR, PADI2, and TPH2 genes of RA. We identified five candidate SNPs and thirteen pathways, involving bystander B cell activation, cytokine network, and collagen metabolic processing, which may contribute to SLE susceptibility, and we revealed candidate causal non-HLA SNPs, genes, and pathways of RA.

journal_name

Mol Biol Rep

authors

Lee YH,Bae SC,Choi SJ,Ji JD,Song GG

doi

10.1007/s11033-012-1952-x

subject

Has Abstract

pub_date

2012-12-01 00:00:00

pages

10627-35

issue

12

eissn

0301-4851

issn

1573-4978

journal_volume

39

pub_type

杂志文章,meta分析
  • Expression patterns of As-ClC gene of Artemia sinica in early development and under salinity stress.

    abstract::As-ClC (chloride channels protein from Artemia sinica), a member from the chloride channels protein family, is a α-helical membrane protein predicted to traverse the cell membrane 11 times. It is important for several physiological functions such as cell volume regulation, cell proliferation, growth and differentiatio...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-012-2441-y

    authors: Zhang Q,Hou M,Li Q,Han L,Yuan Z,Tan J,Du B,Zou X,Hou L

    更新日期:2013-05-01 00:00:00

  • Current insight into the roles of microRNA in vitiligo.

    abstract::Vitiligo is a common chronic depigmented skin disease characterized by melanocyte loss or dysfunction in the lesion. The pathogenesis of vitiligo has not been fully clarified. Most studies have suggested that the occurrence and progression of vitiligo are due to multiple factors and gene interactions in which noncodin...

    journal_title:Molecular biology reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11033-020-05336-3

    authors: Yan S,Shi J,Sun D,Lyu L

    更新日期:2020-04-01 00:00:00

  • Induction of macroautophagy by heat.

    abstract::Macroautophagy is a regulated bulk degradation process of cellular components, mainly long-lived proteins or cytoplasmic organelles. Nutrient depletion is a classic inducer of macroautophagy. In this report, we have induced heat-mediated macroautophagy in several cell lines in the absence of nutrient depletion. Heat t...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-009-9451-4

    authors: Zhao Y,Gong S,Shunmei E,Zou J

    更新日期:2009-11-01 00:00:00

  • Identification and characterization of spermidine synthase gene from Panax ginseng.

    abstract::A full length spermidine synthase (PgSPD) cDNA was isolated and characterized from the root of Panax ginseng C. A. Meyer. The cDNA was 1,188 nucleotides long and had an open reading frame of 1,002 bp with a deduced amino acid sequence of 333 residues. The calculated molecular mass of the matured protein is approximate...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-009-9725-x

    authors: Parvin S,Kim YJ,Pulla RK,Sathiyamoorthy S,Miah MG,Kim YJ,Wasnik NG,Yang DC

    更新日期:2010-02-01 00:00:00

  • Expression of TopBP1 in hereditary breast cancer.

    abstract::TopBP1 protein displays structural as well as functional similarities to BRCA1 and is involved in DNA replication, DNA damage checkpoint response and transcriptional regulation. Aberrant expression of TopBP1 may lead to genomic instability and can have pathological consequences. In this study we aimed to investigate e...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-012-1622-z

    authors: Forma E,Krzeslak A,Bernaciak M,Romanowicz-Makowska H,Brys M

    更新日期:2012-07-01 00:00:00

  • Molecular cloning and characterization of crustin from mud crab Scylla paramamosain.

    abstract::Antimicrobial peptides (AMPs) are important components of the host innate immune response against microbial invasion. In the present study, we report the identification and characterization of a crustin (CrusSp) from the hemocyte of mud crab, Scylla paramamosain using an expressed sequence tag (EST) and rapid amplific...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-008-9253-0

    authors: Imjongjirak C,Amparyup P,Tassanakajon A,Sittipraneed S

    更新日期:2009-05-01 00:00:00

  • Hepatocellular carcinoma: targeting of oncogenic signaling networks in TRAIL resistant cancer cells.

    abstract::Apoptotic response in hepatocellular carcinoma (HCC) cells is impaired because of interconnectivity of proteins into complexes and signaling networks that are highly divergent in time and space. TNF-related apoptosis-inducing ligand (TRAIL) has emerged as an attractive anticancer agent reported to selectively induce a...

    journal_title:Molecular biology reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11033-014-3577-8

    authors: Fayyaz S,Yaylim I,Turan S,Kanwal S,Farooqi AA

    更新日期:2014-10-01 00:00:00

  • Probiotic Dahi containing Lactobacillus acidophilus and Bifidobacterium bifidum alleviates age-inflicted oxidative stress and improves expression of biomarkers of ageing in mice.

    abstract::The potential benefiting effects of probiotic Dahi on age-inflicted accumulation of oxidation products, antioxidant enzymes and expression of biomarkers of ageing were evaluated in mice. Probiotic Dahi were prepared by co-culturing in buffalo milk (3% fat) Dahi bacteria (Lactococcus lactis ssp. cremoris NCDC-86 and La...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-011-0920-1

    authors: Kaushal D,Kansal VK

    更新日期:2012-02-01 00:00:00

  • The Cdx-2 polymorphism in the VDR gene is associated with increased risk of cancer: a meta-analysis.

    abstract::The Cdx-2 polymorphism in VDR gene has been extensively investigated for association with cancer risk, however, results of different studies have been inconsistent. The objective of this study is to assess the relationship of the Cdx-2 polymorphism in VDR and cancer risk by meta-analysis. All eligible case-control stu...

    journal_title:Molecular biology reports

    pub_type: 杂志文章,meta分析

    doi:10.1007/s11033-013-2503-9

    authors: Huang J,Huang J,Ma Y,Wang H,Yang J,Xiong T,Du L

    更新日期:2013-07-01 00:00:00

  • Interaction between lysine-rich histones and DNA.

    abstract::Using a membrane filter retention technique we have studied the interaction between DNA and lysine rich histone H5 in vitro. It is found that, depending on the ionic conditions, H5 can bind DNA in a random or cooperative manner and exhibits a preference to DNA with high molecular weight and/or high A + T content, as a...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/BF00775749

    authors: Iovcheva C,Dessev GN

    更新日期:1980-03-31 00:00:00

  • Mitochondrial DNA diversity and PCR-based sex determination of Irrawaddy dolphin (Orcaella brevirostris) from Chilika Lagoon, India.

    abstract::Of the only known two Lagoon populations of Irrawaddy dolphins (Orcaella) in the world, one is residing in the Chilika Lagoon in Orissa state, India. In addition to accidental deaths in gill net fishery and mechanized boat operations, there has been exploitation of the species for their oil. Extreme patchy distributio...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-010-0277-x

    authors: Jayasankar P,Patel A,Khan M,Das P,Panda S

    更新日期:2011-03-01 00:00:00

  • The SNP in the promoter region of the bovine ELOVL5 gene influences economic traits including subcutaneous fat thickness.

    abstract::Genetic analyses have contributed to improvements of economically important traits derived from adipose tissue such as fatty acid composition in beef. Elongation of very long chain fatty acids (ELOVL) genes encode for the enzymes that play an important role in elongation of long-chain fatty acids. In this study, we ai...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-012-2398-x

    authors: Matsumoto H,Shimizu Y,Tanaka A,Nogi T,Tabuchi I,Oyama K,Taniguchi M,Mannen H,Sasazaki S

    更新日期:2013-04-01 00:00:00

  • High-throughput retrotransposon-based genetic diversity of maize germplasm assessment and analysis.

    abstract::Maize is one of the world's most important crops and a model for grass genome research. Long terminal repeat (LTR) retrotransposons comprise most of the maize genome; their ability to produce new copies makes them efficient high-throughput genetic markers. Inter-retrotransposon-amplified polymorphisms (IRAPs) were use...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-020-05246-4

    authors: Ghonaim M,Kalendar R,Barakat H,Elsherif N,Ashry N,Schulman AH

    更新日期:2020-03-01 00:00:00

  • Competitive priming PCR: a versatile method to generate cohesive terminus.

    abstract::In the post-genomic era, providing a detailed description of protein functions poses a formidable challenge. To gain functional insights, we have to construct many kinds of expression vectors. DNA recombination based on polymerase chain reaction (PCR) and digestion followed by ligation is the preferred method for vect...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-009-9527-1

    authors: Pan JS,Zhang ZP,Cai JY,Dong J,Ren JL,Wang XZ

    更新日期:2010-03-01 00:00:00

  • Development of fast and sensitive protocols for the detection of viral pathogens using a small portable convection PCR platform.

    abstract::One of the most crucial steps for preventing viral pandemics is the early detection of the causative virus on site. Various molecular and immunological approaches have been developed for virus detection. In this study, we investigated the utility of the recently introduced convection polymerase chain reaction (cPCR) p...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-019-04961-x

    authors: Lee MH,Song KY,Hwang HJ,Kim JH,Hwang I

    更新日期:2019-10-01 00:00:00

  • The nature of the differential inhibition of polyphenylalanine synthesis in extracts from Artemia salina and rabbit reticulocytes by the Phytolacca americana protein.

    abstract::The difference in sensitivity of polyphenylalanine synthesis in extracts from Artemia salina and rabbit reticulocytes to inhibition by the Phytolacca americana protein (PAP) has been found to be linked to the source of the supernatant enzyme fraction and not the ribosomes. In the presence of reticulocyte supernatant e...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/BF00366257

    authors: Suits JP,Irvin JD

    更新日期:1976-04-01 00:00:00

  • The special location of p-H3 and p-CENP-A on heterochromatin during mitosis in MCF-7.

    abstract::CENP-A locates at nucleosome as histone H3-like proteins, and is phosphorylated during mitosis. We investigated the dynamic distribution of p-CENP-A to explore the details of its function. We found that p-CENP-A was phosphorylated at late prophase, and the signal of p-CENP-A arranged at equatorial plate along with nuc...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-007-9136-9

    authors: Li D,Liu R,Song L,Zhou H,Chen J,Huang X

    更新日期:2008-12-01 00:00:00

  • Multifactor dimensionality reduction analysis to elucidate the cross-talk between one-carbon and xenobiotic metabolic pathways in multi-disease models.

    abstract::Putatively functional polymorphisms of one-carbon and xenobiotic metabolic pathways influence susceptibility for wide spectrum of diseases. The current study was aimed to explore gene-gene interactions among these two metabolic pathways in four diseases i.e. breast cancer, systemic lupus erythematosus (SLE), coronary ...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-015-3856-z

    authors: Naushad SM,Vijayalakshmi SV,Rupasree Y,Kumudini N,Sowganthika S,Naidu JV,Ramaiah MJ,Rao DN,Kutala VK

    更新日期:2015-07-01 00:00:00

  • Is the dopamine D3 receptor mRNA on blood lymphocytes help to for identification and subtyping of schizophrenia?

    abstract::Schizophrenia is one of the neuropathological disorders, which are associated with dopamine and its receptors. In recent years, it has been shown that mRNA of D3, D4 and D5 dopamine receptor (DRD3, DRD4, DRD5) subtypes is expressed in human peripheral blood lymphocytes (PBL). A total 55 schizophrenic patients and 51 h...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-010-0396-4

    authors: Urhan-Kucuk M,Erdal ME,Ozen ME,Kul S,Herken H

    更新日期:2011-04-01 00:00:00

  • Expression of cDNA fragment encoding sperm membrane peptide in E. coli.

    abstract::A secretory high-level expression cloning vector designated as pSBC-20 was constructed by inserting a DNA fragment encoding the signal peptide of ompA protein into pBV 220 vector. Any foreign DNA fragment can be inserted into the polylinker cloning sites located after the secretion signal sequence. The cloned foreign ...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/BF00986500

    authors: Li Y,Yan YC,Guo W,Zhao F,Lai J,Koide SS

    更新日期:1995-01-01 00:00:00

  • Plant miR171 modulates mTOR pathway in HEK293 cells by targeting GNA12.

    abstract::Plant microRNAs have shown the capacity to regulate mammalian systems. The potential bioactivity of miR171vr, an isoform of the plant miR171, on human embryonic kidney 293 (HEK293) cells was investigated. Bioinformatics simulations revealed that human G protein subunit alpha 12 (GNA12) transcript could represent an ex...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-020-06070-6

    authors: Gismondi A,Nanni V,Monteleone V,Colao C,Di Marco G,Canini A

    更新日期:2021-01-01 00:00:00

  • Mexican mestizo population sub-structure: effects on genetic and forensic statistical parameters.

    abstract::Since Mexican mestizos are an admixed population, it is necessary to determine the effects that the substructure of the population has on genetic and forensic parameters. With this aim, a study was performed with 15 STR loci (CODIS plus D2S1338 and D19S433) on 1,640 unrelated Mexican mestizos. We determine allele and ...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-012-1888-1

    authors: Noris G,Santana C,Meraz-Ríos MA,de Lourdes Munoz M,Majluf-Cruz A,Magaña JJ,Granados J,Quezada R,Revilla MC,Martínez-Salas S,Xihuitl S,Martínez de la Escalera G,Díaz-Badillo A,Calderon-Aranda ES,Gómez R

    更新日期:2012-12-01 00:00:00

  • Terena Amerindian group autosomal STR data: comparison studies with other Brazilian populations.

    abstract::Allele frequencies for the high polymorphic short tandem repeats (STR) loci PentaE, PentaD, D18S51, D21S11, TH01, D3S1358, FGA, D16S539, D7820, D13S317, vWA and D81179 were analysed in an native Amerindian population from Mato Grosso do Sul state named Terena. Deviations from Hardy-Weinberg expectations were evaluated...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-011-1234-z

    authors: Manta FS,Silva DA,Sánchez-Diz P,Aguiar JI,Cabello PH,Carvalho EF

    更新日期:2012-04-01 00:00:00

  • Fluorometric probing on the binding of hematoxylin to serum albumin.

    abstract::The binding of a cell nucleus stain, hematoxylin (HTL), to bovine serum albumin (BSA) was studied by spectroscopy including fluorescence spectra, UV-Visible absorption, circular dichroism (CD) spectra, synchronous and three-dimensional fluorescence spectra. The results indicated that the binding had led to static fluo...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-009-9448-z

    authors: Zhang HX,Gao S,Xiong ZY,Liu SP

    更新日期:2009-11-01 00:00:00

  • A novel Tetra-primer ARMS-PCR based assay for genotyping SNP rs12303764(G/T) of human Unc-51 like kinase 1 gene.

    abstract::Various case-control studies have shown association of single nucleotide polymorphism rs12303764(G/T) in ULK1 with crohn's disease. The techniques used in these studies were time consuming, complicated and require sophisticated/expensive instruments. Therefore, in order to overcome these problems, we have developed a ...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-016-4087-7

    authors: Randhawa R,Duseja A,Changotra H

    更新日期:2017-02-01 00:00:00

  • Effects of copper toxicity at different pH and temperatures on the in vitro enzyme activity in blood and liver of fish, Prochilodus lineatus.

    abstract::Blood and liver from curimbata (Prochilodus lineatus) acclimated at pH 4.5, 7.0 and 8.0 and at 20 and 30 °C were exposed in vitro to different concentrations of copper (Cu): 98 ± 0.8 μg Cu L-1 at pH 4.5 and 16 ± 0.2 μg Cu L-1 at pH 8.0 at 20 °C; 88 ± 0.8 μg Cu L-1 at pH 4.5 and 14 ± 0.5 μg Cu L-1 at pH 8.0 at 30 °C an...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-019-04944-y

    authors: Dos Santos Carvalho C,Fernandes MN

    更新日期:2019-10-01 00:00:00

  • Glutathione S-transferase M1, T1, and P1 polymorphisms and risk of glioma: a meta-analysis.

    abstract::The relationship between genetic polymorphisms of glutathione S-transferase (GST) and the development of glioma has been investigated in several epidemiologic studies. However these studies report inconsistent results. In order to quantitatively summarise the evidence for such a relationship, a meta-analysis is conduc...

    journal_title:Molecular biology reports

    pub_type: 杂志文章,meta分析

    doi:10.1007/s11033-012-2213-8

    authors: Fan Z,Wu Y,Shen J,Zhan R

    更新日期:2013-02-01 00:00:00

  • Association analysis, genetic diversity and structure analysis of tobacco based on AFLP markers.

    abstract::Knowledge in the area of genetic diversity could aid in providing useful information in the selection of material for breeding such as hybridization programs and quantitative trait loci mapping. To this end, 50 Nicotiana tabacum genotypes were genotyped with 21 primer combination of amplified fragment length polymorph...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-014-3194-6

    authors: Dadras AR,Sabouri H,Nejad GM,Sabouri A,Shoai-Deylami M

    更新日期:2014-05-01 00:00:00

  • Transcriptomic analysis of Asiatic lily in the process of vernalization via RNA-seq.

    abstract::The new transcriptomes provided comprehensive sequence profiling data of transcriptomic variation during vernalization in Lily Asiatic Hybrids 'Tiny ghost'. A number of 52,277,184 sequencing raw reads totaling 5.11 Gbp of the chilling treatment (4 °C) sample and 39,466,176 sequencing raw reads totaling 3.85 Gbp of roo...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-014-3250-2

    authors: Huang J,Liu X,Wang J,Lü Y

    更新日期:2014-06-01 00:00:00

  • A potato pathogenesis-related protein gene, StPRp27, contributes to race-nonspecific resistance against Phytophthora infestans.

    abstract::Late blight caused by Phytophthora infestans is the most important disease of potato. Many efforts have been made to understand molecular mechanism of the durable resistance to address the challenge raised by rapid evolution of the pathogen. A pathogenesis related protein (PR) gene StPRp27 was previously isolated from...

    journal_title:Molecular biology reports

    pub_type: 杂志文章

    doi:10.1007/s11033-011-0937-5

    authors: Shi X,Tian Z,Liu J,van der Vossen EA,Xie C

    更新日期:2012-02-01 00:00:00