Systematic Linkage Disequilibrium Analysis of SLC12A8 at PSORS5 Confirms a Role in Susceptibility to Psoriasis Vulgaris Ulrike Hüffmeier, Jesús Lascorz,

Slides:

Advertisements

Similar presentations

Association Between Genes of Disrupted in Schizophrenia 1 (DISC1) Interactors and Schizophrenia Supports the Role of the DISC1 Pathway in the Etiology.

Advertisements

Extensive Linkage Disequilibrium in Small Human Populations in Eurasia

Impact of Genetic Variants in Human Scavenger Receptor Class B Type I (SCARB1) on Plasma Lipid TraitsCLINICAL PERSPECTIVE by Vipavee Niemsiri, Xingbin.

Pigmentation-Independent Susceptibility Loci for Actinic Keratosis Highlighted by Compound Heterozygosity Analysis Kaiyin Zhong, Joris A.C. Verkouteren,

Asthma-associated polymorphisms in 17q21 influence cord blood ORMDL3 and GSDMA gene expression and IL-17 secretion Anna Lluis, MSc, Michaela Schedel,

Association of functional genetic variants of CTLA4 with reduced serum CTLA4 protein levels and increased risk of idiopathic recurrent miscarriages Maneesh.

Association of insulin receptor genetic variants with polycystic ovary syndrome in a population of women from Central Europe Felicia A. Hanzu, M.D.,

Francesca Capon Journal of Investigative Dermatology

Strong Evidence That KIAA0319 on Chromosome 6p Is a Susceptibility Gene for Developmental Dyslexia Natalie Cope, Denise Harold, Gary Hill, Valentina.

Polymorphisms in the H19 Gene and the Risk of Bladder Cancer

Lipopolysaccharide binding protein promoter variants influence the risk for Gram-negative bacteremia and mortality after allogeneic hematopoietic cell.

Genome-Wide Association Analysis Implicates Elastic Microfibrils in the Development of Nonsyndromic Striae Distensae Joyce Y. Tung, Amy K. Kiefer, Meghan.

Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis- Susceptibility Locus on Chromosome 19p13 Young-Ae Lee, Franz Rüschendorf, Christine.

A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots Leonie C. Jacobs, Merel.

Linkage Disequilibrium Mapping of Schizophrenia Susceptibility to the CAPON Region of Chromosome 1q22 Linda M. Brzustowicz, Jaime Simone, Paria Mohseni,

Andrea Gaedigk, Amanda K. Riffel, J. Steven Leeder

Polycystic ovary syndrome: an ancient disorder?

Caroline Durrant, Krina T. Zondervan, Lon R

The Structure of Linkage Disequilibrium at the DBH Locus Strongly Influences the Magnitude of Association between Diallelic Markers and Plasma Dopamine.

Gene-Expression Variation Within and Among Human Populations

Jingjing Li, Xiumei Hong, Sam Mesiano, Louis J

Complex Role of TNF Variants in Psoriatic Arthritis and Treatment Response to Anti- TNF Therapy: Evidence and Concepts Ulrike Hüffmeier, Rotraut Mössner

The β-Globin Recombinational Hotspot Reduces the Effects of Strong Selection around HbC, a Recently Arisen Mutation Providing Resistance to Malaria Elizabeth.

Assessment of the Genetic Basis of Rosacea by Genome-Wide Association Study Anne Lynn S. Chang, Inbar Raber, Jin Xu, Rui Li, Robert Spitale, Julia Chen,

Genetic Investigations of Kidney Disease: Core Curriculum 2013

A Genome-Wide Association Study in Caucasian Women Points Out a Putative Role of the STXBP5L Gene in Facial Photoaging Sigrid Le Clerc, Lieng Taing,

Single-Nucleotide Polymorphisms and Haplotypes in the VEGF Receptor 3 Gene and the Haplotype GC in the VEGFA Gene Are Associated with Psoriasis in Koreans

Analysis of High-Resolution HapMap of DTNBP1 (Dysbindin) Suggests No Consistency between Reported Common Variant Associations and Schizophrenia Mousumi.

Genomewide-Linkage and Haplotype-Association Studies Map Intracranial Aneurysm to Chromosome 7q11 Hideaki Onda, Hidetoshi Kasuya, Taku Yoneyama, Kintomo.

Haplotypes at ATM Identify Coding-Sequence Variation and Indicate a Region of Extensive Linkage Disequilibrium Penelope E. Bonnen, Michael D. Story,

A Three–Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation David L. Duffy, Grant W. Montgomery, Wei.

Are Interactions between cis-Regulatory Variants Evidence for Biological Epistasis or Statistical Artifacts? Alexandra E. Fish, John A. Capra, William.

Complex Signatures of Natural Selection at the Duffy Blood Group Locus

Clinical Snippets Journal of Investigative Dermatology

Minutes of the Board of Directors Meeting

Maryam M. Asgari, Wei Wang, Nilah M

A modest but significant effect of CGB5 gene promoter polymorphisms in modulating the risk of recurrent miscarriage Kristiina Rull, M.D., Ph.D., Ole.

Genetic Variants in Interferon Regulatory Factor 2 (IRF2) Are Associated with Atopic Dermatitis and Eczema Herpeticum Pei-Song Gao, Donald Y.M. Leung,

Journal of Investigative Dermatology

Journal of Investigative Dermatology

Association of Skin Barrier Genes within the PSORS4 Locus Is Enriched in Singaporean Chinese with Early-Onset Psoriasis Huijia Chen, Terry K.L. Toh,

Benjamin A. Rybicki, José L. Walewski, Mary J

Extensive Linkage Disequilibrium in Small Human Populations in Eurasia

Society for Investigative Dermatology 2010 Meeting Minutes

Ying Jin, Stanca A. Birlea, Pamela R. Fain, Richard A. Spritz

Research Snippets Journal of Investigative Dermatology

Selecting a Maximally Informative Set of Single-Nucleotide Polymorphisms for Association Analyses Using Linkage Disequilibrium Christopher S. Carlson,

Polymorphisms in the Promoter of the Interleukin-4 Receptor α Chain Gene Are Associated with Atopic Dermatitis in Japan Naoko Hosomi, Kazuyoshi Fukai,

Evaluation of the IRF-2 Gene as a Candidate for PSORS3

Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations Wen-Ya Ko, Prianka Rajan, Felicia Gomez, Laura.

Implication of HLA-G 5′ upstream regulatory region polymorphisms in idiopathic recurrent spontaneous abortions Divya Agrawal, Swayam Prakash, Maneesh.

Research Snippets from the British Journal of Dermatology

Torsten Zuberbier, Beate M. Henz

Genome-Wide Association Study of Generalized Vitiligo in an Isolated European Founder Population Identifies SMOC2, in Close Proximity to IDDM8 Stanca.

Research Snippets Journal of Investigative Dermatology

Journal of Investigative Dermatology

Genetic Polymorphisms in the Polycomb Group Gene EZH2 and the Risk of Lung Cancer Kyong-Ah Yoon, MD, Hye Jin Gil, MS, Jihye Han, MS, Jaehee Park, MS,

Association study between single nucleotide polymorphisms in the VEGF gene and polycystic ovary syndrome Eung-Ji Lee, M.Sc., Bermseok Oh, Ph.D., Jong-Young.

Single Nucleotide Polymorphisms of the Fibroblast Growth Factor Receptor 2 Gene in Patients with Chronic Venous Insufficiency with Leg Ulcer N. Nagy,

Psoriasis Genetics: The Way Forward

Journal of Investigative Dermatology

Single-Point Haplotype Scores Telomeric to Human Leukocyte Antigen-C Give a High Susceptibility Major Histocompatability Complex Haplotype for Psoriasis.

Genetic variants in the GATA3 gene are not associated with asthma and atopic diseases in German children Kathrin Suttner, MSc, Martin Depner, MSc, Norman.

Association Analysis of Cystatin A and Zinc Finger Protein 148, Two Genes Located at the Psoriasis Susceptibility Locus PSORS5 Lena Samuelsson, Camilla.

Jesús Martínez-Borra, Chaim Brautbar, Segundo González, Claes D

Brian C. Verrelli, Sarah A. Tishkoff

Genetic Variants in CTLA4 Are Strongly Associated with Alopecia Areata

Beyond GWASs: Illuminating the Dark Road from Association to Function

Gonçalo R. Abecasis, Janis E. Wigginton

Low-Intensity Laser Therapy is an Effective Treatment for Recurrent Herpes Simplex Infection. Results from a Randomized Double-Blind Placebo-Controlled.

Presentation transcript:

Systematic Linkage Disequilibrium Analysis of SLC12A8 at PSORS5 Confirms a Role in Susceptibility to Psoriasis Vulgaris Ulrike Hüffmeier, Jesús Lascorz, Heiko Traupe, Beate Böhm, Funda Schürmeier-Horst, Markward Ständer, Reinhard Kelsch, Claudia Baumann, Wolfgang Küster, Harald Burkhardt, André Reis Journal of Investigative Dermatology Volume 125, Issue 5, Pages 906-912 (November 2005) DOI: 10.1111/j.0022-202X.2005.23847.x Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Results of the χ2 statistics for the 35 tag single nucleotide polymorphism in SLC12A8 (compared with controls). The horizontal line indicates the significance level of p<0.05. Curly braces indicate affiliation to a haplotype block. Journal of Investigative Dermatology 2005 125, 906-912DOI: (10.1111/j.0022-202X.2005.23847.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Linkage disequilibrium (LD) structure of genomic region including SLC12A8. (a) Exon structure of SLC12A8. 5′ and 3′ untranslated regions are indicated as thinner blocks. Nine haplotype blocks (5′ and from A to H). (b) Pairwise LD plot for the 68 single nucleotide polymorphism (SNP) with minor allele frequency (MAF)>0.2 in SLC12A8. Each square plots the level of LD between a pair of sites in the region; comparisons between neighboring sites lie along the first line. Black coloring indicates strong LD, gray indicates intermediate or uninformative LD, and white indicates weak LD. The areas limited by a black line show the nine haplotype blocks along the gene defined as described in Material and Methods. Journal of Investigative Dermatology 2005 125, 906-912DOI: (10.1111/j.0022-202X.2005.23847.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Results of the χ2 statistics for the haplotypes within a haplotype block in SLC12A8 (compared with controls). The horizontal line indicates the significance level of p<0.05. Journal of Investigative Dermatology 2005 125, 906-912DOI: (10.1111/j.0022-202X.2005.23847.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 Overview of different association levels including longer-range haplotypes in the case–control study. (a) Exon structure of SLC12A8. 5′and 3′ untranslated regions are indicated as thinner blocks. (b) Eight intragenic haplotype blocks (from A to H), strongly associated haplotypes in black. (c) Associated single nucleotide polymorphisms in case–control study displayed as black arrows, dashed arrow indicates rs1712458. (d) Extension of longer-range haplotypes and significance levels of association in the case–control study (χ2 statistics) (for details, see manuscript). Journal of Investigative Dermatology 2005 125, 906-912DOI: (10.1111/j.0022-202X.2005.23847.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions