Polymorphisms in the Tyrosine Kinase 2 and Interferon Regulatory Factor 5 Genes Are Associated with Systemic Lupus Erythematosus Snaevar Sigurdsson,

Slides:

Advertisements

Similar presentations

Polymorphisms in the Tyrosine Kinase 2 and Interferon Regulatory Factor 5 Genes Are Associated with Systemic Lupus Erythematosus Snaevar Sigurdsson, Gunnel.

Advertisements

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

Sofia A. Oliveira, Yi-Ju Li, Maher A

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

The Trimmed-Haplotype Test for Linkage Disequilibrium

Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease

Extensive Linkage Disequilibrium in Small Human Populations in Eurasia

Elisabeth H. Villavicencio, David O. Walterhouse, Philip M. Iannaccone

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

CYP3A Variation and the Evolution of Salt-Sensitivity Variants

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

Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with Important Functions for Kidney Disease Yi-An Ko, Huiguang Yi, Chengxiang Qiu, Shizheng.

Claudio Verzilli, Tina Shah, Juan P

Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.

Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease

Association between genetic variations of vascular endothelial growth factor receptor 2 and atopy in the Korean population Heung-Woo Park, MD, Jong-Eun.

Was ADH1B under Selection in European Populations?

Optimized Group Sequential Study Designs for Tests of Genetic Linkage and Association in Complex Diseases Inke R. König, Helmut Schäfer, Hans-Helge Müller,

Brian Kornblit, Tania Masmas, Søren L. Petersen, Hans O

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1 Brendan Lee The American Journal of Human Genetics

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

A Common Haplotype in the G-Protein–Coupled Receptor Gene GPR74 Is Associated with Leanness and Increased Lipolysis Ingrid Dahlman, Andrea Dicker, Hong.

Linkage Thresholds for Two-stage Genome Scans

Polymorphisms in the Low-Density Lipoprotein Receptor–Related Protein 5 (LRP5) Gene Are Associated with Variation in Vertebral Bone Mass, Vertebral Bone.

Multilocus Bayesian Meta-Analysis of Gene-Disease Associations

Lower-Than-Expected Linkage Disequilibrium between Tightly Linked Markers in Humans Suggests a Role for Gene Conversion Kristin Ardlie, Shau Neen Liu-Cordero,

HYST: A Hybrid Set-Based Test for Genome-wide Association Studies, with Application to Protein-Protein Interaction-Based Association Analysis Miao-Xin.

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.

CYP3A Variation and the Evolution of Salt-Sensitivity Variants

Age-Dependent Association between Pulmonary Tuberculosis and Common TOX Variants in the 8q12–13 Linkage Region Audrey V. Grant, Jamila El Baghdadi, Ayoub.

Genetic Investigations of Kidney Disease: Core Curriculum 2013

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

John D. Rioux, Valerie A. Stone, Mark J

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

Polymorphisms of chitinases are not associated with asthma

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

Christoph Lange, Nan M. Laird The American Journal of Human Genetics

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

E. Wang, Y. -C. Ding, P. Flodman, J. R. Kidd, K. K. Kidd, D. L

Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent Sharon R. Browning, Brian L. Browning The.

Disrupted in Schizophrenia 1 (DISC1): Association with Schizophrenia, Schizoaffective Disorder, and Bipolar Disorder Colin A. Hodgkinson, David Goldman,

Complex Signatures of Natural Selection at the Duffy Blood Group Locus

Erratum The American Journal of Human Genetics

Pritam Chanda, Aidong Zhang, Daniel Brazeau, Lara Sucheston, Jo L

Variation in the HLA-G Promoter Region Influences Miscarriage Rates

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

A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism Dan E. Arking, David J. Cutler, Camille W. Brune,

Genomewide Scan in Families with Schizophrenia from the Founder Population of Afrikaners Reveals Evidence for Linkage and Uniparental Disomy on Chromosome.

Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 Mutation Terhi Rantamäki, Ilkka Kaitila, Ann-Christine Syvänen,

Extensive Linkage Disequilibrium in Small Human Populations in Eurasia

Association of NOD1 polymorphisms with atopic eczema and related phenotypes Stephan Weidinger, MD, Norman Klopp, PhD, Lars Rummler, MD, Stefan Wagenpfeil,

Victoria E. H. Carlton, Xiaolan Hu, Anand P. Chokkalingam, Steven J

Javier Oliver, Blanca Rueda, Miguel A

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

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

Brad H. Rovin, Ling Lu, Xiaolan Zhang Kidney International

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

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,

Are Variants in the CAPN10 Gene Related to Risk of Type 2 Diabetes

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

Data Mining Applied to Linkage Disequilibrium Mapping

Lactase Haplotype Diversity in the Old World

Warfarin Pharmacogenetics: CYP2C9 and VKORC1 Genotypes Predict Different Sensitivity and Resistance Frequencies in the Ashkenazi and Sephardi Jewish.

Gonçalo R. Abecasis, Janis E. Wigginton

E. Ekelund, A. Sääf, M. Tengvall-Linder, E. Melen, J. Link, J

Bruce Rannala, Jeff P. Reeve The American Journal of Human Genetics

Presentation transcript:

Polymorphisms in the Tyrosine Kinase 2 and Interferon Regulatory Factor 5 Genes Are Associated with Systemic Lupus Erythematosus Snaevar Sigurdsson, Gunnel Nordmark, Harald H.H. Göring, Katarina Lindroos, Ann-Christin Wiman, Gunnar Sturfelt, Andreas Jönsen, Solbritt Rantapää-Dahlqvist, Bozena Möller, Juha Kere, Sari Koskenmies, Elisabeth Widén, Maija-Leena Eloranta, Heikki Julkunen, Helga Kristjansdottir, Kristjan Steinsson, Gunnar Alm, Lars Rönnblom, Ann-Christine Syvänen The American Journal of Human Genetics Volume 76, Issue 3, Pages 528-537 (March 2005) DOI: 10.1086/428480 Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 1 Schematic illustration of the structure of TYK2 and IRF5. The positions of exons are shown as numbered gray boxes, and the translation initiation sites are shown by arrows on both genes. The positions of the 11 TYK2 SNPs and the 6 IRF5 SNPs analyzed in the study are shown by vertical lines and dbSNP rs numbers. SNPs with low P values in joint linkage and association analysis in the Swedish and/or Finnish sample sets are marked with an asterisk (*). The D′ and r2 values for pairwise linkage disequilibrium for the TYK2 SNPs were calculated from the genotypes of Swedish unrelated control individuals, and the D′ and r2 values for the IRF5 SNPs were calculated from Finnish unrelated control individuals, by use of the Haploview program (Barrett et al. 2005). ns=nonsignificant. The American Journal of Human Genetics 2005 76, 528-537DOI: (10.1086/428480) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure A1 Pairwise LD values determined using the Haploview program for 11 SNPs in the tyrosine kinase 2 (TYK2) gene and 6 SNPs in the IFN regulatory factor 5 (IRF5) gene in control individuals from the Swedish population (n=256) and the Finnish population (n=121). The dbSNP rs numbers for the SNPs are given to the left and above the boxes in the diagrams. D′ values are given in the lower left half and R2 values in the upper right half of the diagrams. The American Journal of Human Genetics 2005 76, 528-537DOI: (10.1086/428480) Copyright © 2005 The American Society of Human Genetics Terms and Conditions