Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map.

Abstract:

:Psoriasis is a chronic inflammatory disease of the skin with both genetic and environmental risk factors. Here we describe the creation of a single-nucleotide polymorphism (SNP) map spanning 900-1200 kb of chromosome 3q21, which had been previously recognized as containing a psoriasis susceptibility locus, PSORS5. We genotyped 644 individuals, from 195 Swedish psoriatic families, for 19 polymorphisms. Linkage disequilibrium (LD) between marker and disease was assessed using the transmission/disequilibrium test (TDT). In the TDT analysis, alleles of three of these SNPs showed significant association with disease (P<0.05). A 160-kb interval encompassing these three SNPs was sequenced, and a coding sequence consisting of 13 exons was identified. The predicted protein shares 30-40% homology with the family of cation/chloride cotransporters. A five-marker haplotype spanning the 3' half of this gene is associated with psoriasis to a P value of 3.8<10(-5). We have called this gene SLC12A8, coding for a member of the solute carrier family 12 proteins. It belongs to a class of genes that were previously unrecognized as playing a role in psoriasis pathogenesis.

journal_name

Genomics

journal_title

Genomics

authors

Hewett D,Samuelsson L,Polding J,Enlund F,Smart D,Cantone K,See CG,Chadha S,Inerot A,Enerback C,Montgomery D,Christodolou C,Robinson P,Matthews P,Plumpton M,Wahlstrom J,Swanbeck G,Martinsson T,Roses A,Riley J,Purvi

doi

10.1006/geno.2002.6720

subject

Has Abstract

pub_date

2002-03-01 00:00:00

pages

305-14

issue

3

eissn

0888-7543

issn

1089-8646

pii

S0888754302967200

journal_volume

79

pub_type

杂志文章

相关文献

GENOMICS文献大全
  • Identification of two evolutionarily conserved and functional regulatory elements in intron 2 of the human BRCA1 gene.

    abstract::Cross-species comparative genomics is a powerful strategy for identifying functional regulatory elements within noncoding DNA. In this paper, comparative analysis of human and mouse intronic sequences in the breast cancer susceptibility gene (BRCA1) revealed two evolutionarily conserved noncoding sequences (CNS) in in...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2005.05.006

    authors: Wardrop SL,Brown MA,kConFab Investigators.

    更新日期:2005-09-01 00:00:00

  • CLONEPLACER: a software tool for simulating contig formation for ordered shotgun sequencing.

    abstract::This communication describes a software tool that enables one to simulate large-scale regional mapping using an ordered shotgun sequencing approach. The analysis routines that are provided yield an estimate of the depth of coverage of the physical map, the largest contig formed, and the number of gaps remaining at any...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(95)80057-s

    authors: Singh GB,Krawetz SA

    更新日期:1995-01-20 00:00:00

  • Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes.

    abstract::Genes that encode the vertebrate fibrillar collagen types I-III have previously been shown to share a highly conserved intron/exon organization, thought to reflect common ancestry and evolutionary pressures at the protein level. We report here the complete intron/exon organization of COL5A1, the human gene that encode...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1995.9961

    authors: Takahara K,Hoffman GG,Greenspan DS

    更新日期:1995-10-10 00:00:00

  • Minimum error calibration and normalization for genomic copy number analysis.

    abstract:BACKGROUND:Copy number variations (CNV) are regional deviations from the normal autosomal bi-allelic DNA content. While germline CNVs are a major contributor to genomic syndromes and inherited diseases, the majority of cancers accumulate extensive "somatic" CNV (sCNV or CNA) during the process of oncogenetic transforma...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2020.05.008

    authors: Gao B,Baudis M

    更新日期:2020-09-01 00:00:00

  • Methylation dynamics of IG-DMR and Gtl2-DMR during murine embryonic and placental development.

    abstract::The Dlk1-Dio3 imprinted domain on mouse chromosome 12 contains IG-DMR and Gtl2-DMR, whose methylation patterns are established in the germline and after fertilization, respectively. In this study, we determine that acquisition of DNA methylation at the paternal allele of the Gtl2-DMR is initiated after the blastocyst ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2011.05.003

    authors: Sato S,Yoshida W,Soejima H,Nakabayashi K,Hata K

    更新日期:2011-08-01 00:00:00

  • Genomic organization and genetic mapping of the neuroimmune gene I2rf5 to mouse chromosome 4.

    abstract::The nervous and immune systems share many functional and molecular similarities, including shared surface antigens, secretions of soluble factors, and cross-modulatory effects. We have identified previously a novel mRNA termed F5, which is expressed only in activated T lymphocytes and mature, postmitotic neurons. Tiss...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(95)80137-b

    authors: Autieri MV,Kozak CA,Cohen JA,Prystowsky MB

    更新日期:1995-01-01 00:00:00

  • Expression and chromosomal localization of the human alpha 4/IGBP1 gene, the structure of which is closely related to the yeast TAP42 protein of the rapamycin-sensitive signal transduction pathway.

    abstract::To study the function of the B cell signal transduction molecule alpha 4 (IGBP1), we isolated a human alpha 4 (IGBP1) gene that has sequence similarity to the yeast protein (TAP42) involved in the rapamycin-sensitive signal transduction pathway. The human alpha 4 has sequence identities with murine alpha 4 of 83.4% nu...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.5048

    authors: Onda M,Inui S,Maeda K,Suzuki M,Takahashi E,Sakaguchi N

    更新日期:1997-12-15 00:00:00

  • Analysis of genetic association using hierarchical clustering and cluster validation indices.

    abstract::It is usually assumed that co-expressed genes suggest co-regulation in the underlying regulatory network. Determining sets of co-expressed genes is an important task, based on some criteria of similarity. This task is usually performed by clustering algorithms, where the genes are clustered into meaningful groups base...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2017.06.009

    authors: Pagnuco IA,Pastore JI,Abras G,Brun M,Ballarin VL

    更新日期:2017-10-01 00:00:00

  • A PstI polymorphism for the human erythrocyte surface protein band 3 (EPB3) demonstrates close linkage of EPB3 to the nerve growth factor receptor.

    abstract::Erythrocyte surface protein band 3 (EPB3) plays an important role in CO2 transport in the blood. We have isolated a recombinant lambda bacteriophage that contains coding sequence for the human gene. Sequence analysis demonstrated that the human insert contains a portion of exon 13. A 1.1-kb BamHI fragment revealed a t...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(89)90034-7

    authors: Stewart EA,Kopito R,Bowcock AM

    更新日期:1989-10-01 00:00:00

  • Chromosome mapping of the owl monkey CSF1R and IL5 genes.

    abstract::We mapped the owl monkey colony-stimulating factor 1 receptor (CSF1R) locus to the proximal region of chromosome 3q of karyotype VI(K-VI) and karyotype V(K-V) and the interleukin 5 (IL5) locus to the mid-region of chromosome 3q(K-VI) and 19q(K-IV) using a combination of Southern hybridization of somatic cells and in s...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(92)90034-p

    authors: Ma NS,Lin KC

    更新日期:1992-08-01 00:00:00

  • Cloning, structural organization, and chromosomal mapping of the human phenol sulfotransferase STP2 gene.

    abstract::Phenol- and monoamine-metabolizing sulfotransferases (STP and STM, respectively) are members of a superfamily of enzymes that add sulfate to a variety of xenobiotics and endobiotics containing hydroxyl or amino functional groups. To characterize related sulfotransferase genes further, we used extra-long PCR (XL-PCR) t...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.4575

    authors: Gaedigk A,Beatty BG,Grant DM

    更新日期:1997-03-01 00:00:00

  • Integrated analysis of mRNA and miRNA expression in response to interleukin-6 in hepatocytes.

    abstract::The expression of plasma proteins changes dramatically as a result of cytokine induction, particularly interleukin-6, and their levels are used as clinical markers of inflammation. miRNAs are important regulators of gene expression and play significant roles in many inflammatory diseases and processes. The interaction...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2015.05.001

    authors: Lukowski SW,Fish RJ,Martin-Levilain J,Gonelle-Gispert C,Bühler LH,Maechler P,Dermitzakis ET,Neerman-Arbez M

    更新日期:2015-08-01 00:00:00

  • Comparative genomics study for identification of drug and vaccine targets in Vibrio cholerae: MurA ligase as a case study.

    abstract::A systematic workflow consisting of comparative genomics, metabolic pathways analysis and additional drug prioritization parameters identified 264 proteins of Vibrio cholerae which were predicted to be absent in Homo sapiens. Among these, 40 proteins were identified as essential proteins that could serve as potential ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2013.12.002

    authors: Chawley P,Samal HB,Prava J,Suar M,Mahapatra RK

    更新日期:2014-01-01 00:00:00

  • SNP identification, linkage disequilibrium, and haplotype analysis for a 200-kb genomic region in a Korean population.

    abstract::Understanding patterns of linkage disequilibrium (LD) across genomes may facilitate association mapping studies to localize genetic variants influencing complex diseases, a recognition that led to the International Haplotype Mapping Project (HapMap). Divergent patterns of haplotype frequency and LD across global popul...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2006.03.003

    authors: Kim KJ,Lee HJ,Park MH,Cha SH,Kim KS,Kim HT,Kimm K,Oh B,Lee JY

    更新日期:2006-11-01 00:00:00

  • Decoding complex patterns of genomic rearrangement in hepatocellular carcinoma.

    abstract::Elucidating the molecular basis of hepatocellular carcinoma (HCC) is crucial to developing targeted diagnostics and therapies for this deadly disease. The landscape of somatic genomic rearrangements (GRs), which can lead to oncogenic gene fusions, remains poorly characterized in HCC. We have predicted 4314 GRs includi...

    journal_title:Genomics

    pub_type: 临床试验,杂志文章

    doi:10.1016/j.ygeno.2014.01.003

    authors: Fernandez-Banet J,Lee NP,Chan KT,Gao H,Liu X,Sung WK,Tan W,Fan ST,Poon RT,Li S,Ching K,Rejto PA,Mao M,Kan Z

    更新日期:2014-02-01 00:00:00

  • Identification of eight genes encoding chemokine-like factor superfamily members 1-8 (CKLFSF1-8) by in silico cloning and experimental validation.

    abstract::TM4SF11 is only 102 kb from the chemokine gene cluster composed of SCYA22, SCYD1, and SCYA17 on chromosome 16q13. CKLF maps on chromosome 16q22. CKLFs have some characteristics associated with the CCL22/MDC, CX3CL1/fractalkine, CCL17/TARC, and TM4SF proteins. Bioinformatics based on CKLF2 cDNA and protein sequences in...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/s0888-7543(03)00095-8

    authors: Han W,Ding P,Xu M,Wang L,Rui M,Shi S,Liu Y,Zheng Y,Chen Y,Yang T,Ma D

    更新日期:2003-06-01 00:00:00

  • A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences.

    abstract::We have constructed a high-resolution map of a 6-Mb interval of human chromosome 5, band q31, incorporating 175 sequence tagged sites, of which 33 are genetic polymorphisms and 122 are nonredundant expressed sequences. The map was assembled initially as a YAC contig, incorporating data from radiation hybrid maps. To i...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1999.5765

    authors: Horrigan SK,Bartoloni L,Speer MC,Fulton N,Kravarusic J,Ramesar R,Vance JM,Yamaoka LH,Westbrook CA

    更新日期:1999-04-01 00:00:00

  • Genome classification improvements based on k-mer intervals in sequences.

    abstract::Given the vast amount of genomic data, alignment-free sequence comparison methods are required due to their low computational complexity. k-mer based methods can improve comparison accuracy by extracting an effective feature of the genome sequences. The aim of this paper is to extract k-mer intervals of a sequence as ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2018.11.001

    authors: Han GB,Cho DH

    更新日期:2019-12-01 00:00:00

  • Function and characterization of the promoter region of perilipin 1 (PLIN1): Roles of E2F1, PLAG1, C/EBPβ, and SMAD3 in bovine adipocytes.

    abstract::Perilipin 1 (PLIN1) protein, also known as lipid droplet-associated protein, is encoded by the PLIN1 gene and is able to anchor itself to the membranes of lipid droplets. The phosphorylation of PLIN1 is critical for the mobilization of fat in adipose tissue and plays an important role in regulating lipolysis and lipid...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2020.01.012

    authors: Shijun L,Khan R,Raza SHA,Jieyun H,Chugang M,Kaster N,Gong C,Chunping Z,Schreurs NM,Linsen Z

    更新日期:2020-05-01 00:00:00

  • Genomic organization, promoter analysis, and chromosomal localization of the gene for the mouse glial high-affinity glutamate transporter Slc1a3.

    abstract::The mouse gene encoding glial high-affinity, Na+-dependent glutamate transporter Slc1a3 (GluT-1/GLAST) was isolated, and its structural organization was characterized. The gene appeared to exist as a single copy in the mouse genome and comprised 10 exons spanning more than 56 kilobases. The transcription initiation si...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0226

    authors: Hagiwara T,Tanaka K,Takai S,Maeno-Hikichi Y,Mukainaka Y,Wada K

    更新日期:1996-05-01 00:00:00

  • Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.

    abstract::Point mutations in the factor VIII gene are responsible for the majority of cases of hemophilia A, and only a small fraction of these mutations can be recognized by restriction endonuclease analysis. We have now used polymerase chain reaction and denaturing gradient gel electrophoresis to characterize single nucleotid...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(90)90569-g

    authors: Traystman MD,Higuchi M,Kasper CK,Antonarakis SE,Kazazian HH Jr

    更新日期:1990-02-01 00:00:00

  • Physical mapping of genetic markers on the short arm of chromosome 5.

    abstract::The deletion of the short arm of chromosome 5 is associated with the cri-du-chat syndrome. In addition, loss of this portion of a chromosome is a common cytogenetic marker in a number of malignancies. However, to date, no genes associated with these disorders have been identified. Physical maps are the first step in i...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1994.1668

    authors: Gersh M,Goodart SA,Overhauser J

    更新日期:1994-12-01 00:00:00

  • SCOPE++: sequence classification of homoPolymer emissions.

    abstract:BACKGROUND:mRNA polyadenylation, the addition of a poly(A) tail to the 3'-end of pre-mRNA, is a process critical to gene expression and regulation in eukaryotes. To understand the molecular mechanisms governing polyadenylation and other relevant biological processes, it is important to identify these poly(A) tails accu...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2014.07.005

    authors: Morton JT,Abrudan P,Figueroa N,Liang C,Karro JE

    更新日期:2014-09-01 00:00:00

  • Genome-wide effects of DNA methyltransferase inhibitor on gene expression in double-stranded RNA transfected porcine PK15 cells.

    abstract::Double-stranded RNA (dsRNA) is produced in host cells during viral replication. The effects of DNA demethylation on gene expression in dsRNA transfected swine cells are unclear. The study aims to profile the transcriptome changes which are induced by DNA methyltransferase inhibitor (Aza-CdR) in porcine PK15 cells tran...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2013.10.005

    authors: Wang X,Ao H,Zhai L,Bai L,He W,Yu Y,Wang C

    更新日期:2014-05-01 00:00:00

  • Genomic organization of a new candidate tumor suppressor gene, LRP1B.

    abstract::LRP1B is a novel candidate tumor suppressor gene that is inactivated by genetic and transcript alterations in nearly 50% of non-small-cell lung cancer cell lines. The gene-encoded protein is highly homologous to the gigantic lipoprotein receptor-related protein 1 (LRP1) that belongs to the family of low-density lipopr...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.2000.6331

    authors: Liu CX,Musco S,Lisitsina NM,Yaklichkin SY,Lisitsyn NA

    更新日期:2000-10-15 00:00:00

  • Repetitive DNA (TGGA)n 5' to the human myelin basic protein gene: a new form of oligonucleotide repetitive sequence showing length polymorphism.

    abstract::DNA 5' to the human myelin basic protein (MBP) gene, mapped to 18q22----qter, is known to manifest multiallelic DNA length variation with heterozygosity of at least 45%. Isolation of genomic DNA containing the MBP gene first exon and its 5' flanking region reveals that this polymorphism arises from a 994-bp region of ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(90)90443-x

    authors: Boylan KB,Ayres TM,Popko B,Takahashi N,Hood LE,Prusiner SB

    更新日期:1990-01-01 00:00:00

  • A transcript map of a 10-Mb region of chromosome 19: a source of genes for human disorders, including candidates for genes involved in asthma, heart defects, and eye development.

    abstract::Several projects have produced maps of the physical position of genes within the human genome, either on a genome-wide scale or of a more detailed subsection of a chromosome. However, these maps largely rely on the mapping of expressed sequences (cDNAs and ESTs) back onto physical maps by their localization onto speci...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1999.6075

    authors: Hamshere M,Cross S,Daniels M,Lennon G,Brook JD

    更新日期:2000-02-01 00:00:00

  • Physical mapping of the rippling muscle disease locus.

    abstract::Rippling muscle disease (RMD) is an autosomal dominant disorder characterized by electrically silent, percussion-induced muscular contractions. We previously reported the localization of a gene for RMD to 1q41-q42 by genome-wide linkage analysis in a large family from Oregon. This RMD gene was initially found to be co...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1998.5689

    authors: Stephan DA,Hoffman EP

    更新日期:1999-02-01 00:00:00

  • Genomic imprinting and chromosomal localization of the human MEST gene.

    abstract::We have isolated a human homologue (MEST) of the mouse mesoderm-specific transcript (Mest) gene that shares about 70% nucleotide sequence homology. Northern blot analysis showed that the MEST gene was expressed in all major fetal organs and tissues so far examined, i.e., amnion, brain, heart, lung, stomach, gut, adren...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0502

    authors: Nishita Y,Yoshida I,Sado T,Takagi N

    更新日期:1996-09-15 00:00:00

  • Identification of small non-coding RNAs in the planarian Dugesia japonica via deep sequencing.

    abstract::Freshwater planarian flatworm possesses an extraordinary ability to regenerate lost body parts after amputation; it is perfect organism model in regeneration and stem cell biology. Recently, small RNAs have been an increasing concern and studied in many aspects, including regeneration and stem cell biology, among othe...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2012.03.001

    authors: Qin YF,Zhao JM,Bao ZX,Zhu ZY,Mai J,Huang YB,Li JB,Chen G,Lu P,Chen SJ,Su LL,Fang HM,Lu JK,Zhang YZ,Zhang ST

    更新日期:2012-05-01 00:00:00