Literature DB >> 27109640

Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome.

Valerie M Harris1, Rohan Sharma2, Joshua Cavett3, Biji T Kurien4, Ke Liu5, Kristi A Koelsch4, Astrid Rasmussen6, Lida Radfar7, David Lewis7, Donald U Stone8, C Erick Kaufman9, Shibo Li10, Barbara Segal11, Daniel J Wallace12, Michael H Weisman12, Swamy Venuturupalli12, Jennifer A Kelly6, Marta E Alarcon-Riquelme13, Bernardo Pons-Estel14, Roland Jonsson15, Xianglan Lu10, Jacques-Eric Gottenberg16, Juan-Manuel Anaya17, Deborah S Cunninghame-Graham18, Andrew J W Huang19, Michael T Brennan20, Pamela Hughes19, Ilias Alevizos21, Corinne Miceli-Richard22, Edward C Keystone23, Vivian P Bykerk24, Gideon Hirschfield25, Gang Xie26, Katherine A Siminovitch, Wan-Fai Ng27, Gunnel Nordmark28, Sara Magnusson Bucher29, Per Eriksson30, Roald Omdal31, Nelson L Rhodus32, Maureen Rischmueller33, Michael Rohrer19, Marie Wahren-Herlenius34, Torsten Witte35, Xavier Mariette22, Christopher J Lessard6, John B Harley36, Kathy L Sivils1, R Hal Scofield37.   

Abstract

Primary Sjögren's syndrome (pSS) has a strong female bias. We evaluated an X chromosome dose effect by analyzing 47,XXY (Klinefelter's syndrome, 1 in 500 live male births) among subjects with pSS. 47,XXY was determined by examination of fluorescence intensity of single nucleotide polymorphisms from the X and Y chromosomes. Among 136 pSS men there were 4 with 47,XXY. This was significantly different from healthy controls (1 of 1254 had 47,XXY, p=0.0012 by Fisher's exact test) as well men with rheumatoid arthritis (0 of 363 with 47,XXY), but not different compared to men with systemic lupus erythematosus (SLE) (4 of 136 versus 8 of 306, Fisher's exact test p=NS). These results are consistent with the hypothesis that the number of X chromosomes is critical for the female bias of pSS, a property that may be shared with SLE but not RA. Published by Elsevier Inc.

Entities:  

Keywords:  Klinefelter's syndrome; Sex bias; Sjögren's syndrome; X chromosome

Mesh:

Year:  2016        PMID: 27109640      PMCID: PMC4940221          DOI: 10.1016/j.clim.2016.04.002

Source DB:  PubMed          Journal:  Clin Immunol        ISSN: 1521-6616            Impact factor:   3.969


  27 in total

Review 1.  Classification criteria for Sjögren's syndrome: a revised version of the European criteria proposed by the American-European Consensus Group.

Authors:  C Vitali; S Bombardieri; R Jonsson; H M Moutsopoulos; E L Alexander; S E Carsons; T E Daniels; P C Fox; R I Fox; S S Kassan; S R Pillemer; N Talal; M H Weisman
Journal:  Ann Rheum Dis       Date:  2002-06       Impact factor: 19.103

2.  X-inactivation profile reveals extensive variability in X-linked gene expression in females.

Authors:  Laura Carrel; Huntington F Willard
Journal:  Nature       Date:  2005-03-17       Impact factor: 49.962

3.  47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling.

Authors:  L Abramsky; J Chapple
Journal:  Prenat Diagn       Date:  1997-04       Impact factor: 3.050

4.  The effect of testosterone replacement treatment on immunological features of patients with Klinefelter's syndrome.

Authors:  I H Koçar; Z Yesilova; M Ozata; M Turan; A Sengül; I Ozdemir
Journal:  Clin Exp Immunol       Date:  2000-09       Impact factor: 4.330

5.  X chromosome monosomy: a common mechanism for autoimmune diseases.

Authors:  Pietro Invernizzi; Monica Miozzo; Carlo Selmi; Luca Persani; Pier Maria Battezzati; Massimo Zuin; Simona Lucchi; Pier Luigi Meroni; Bianca Marasini; Silvana Zeni; Mitchell Watnik; Francesca R Grati; Giuseppe Simoni; M Eric Gershwin; Mauro Podda
Journal:  J Immunol       Date:  2005-07-01       Impact factor: 5.422

6.  A cytogenetic study of 47,XXY males of known origin and their parents.

Authors:  P A Jacobs; C Bacino; T Hassold; N E Morton; M Keston; M Lee
Journal:  Ann Hum Genet       Date:  1988-10       Impact factor: 1.670

7.  Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome.

Authors:  R Hal Scofield; Gail R Bruner; Bahram Namjou; Robert P Kimberly; Rosalind Ramsey-Goldman; Michelle Petri; John D Reveille; Graciela S Alarcón; Luis M Vilá; Jeff Reid; Bryan Harris; Shibo Li; Jennifer A Kelly; John B Harley
Journal:  Arthritis Rheum       Date:  2008-08

8.  Comparison of the American-European Consensus Group Sjogren's syndrome classification criteria to newly proposed American College of Rheumatology criteria in a large, carefully characterised sicca cohort.

Authors:  Astrid Rasmussen; John A Ice; He Li; Kiely Grundahl; Jennifer A Kelly; Lida Radfar; Donald U Stone; Kimberly S Hefner; Juan-Manuel Anaya; Michael Rohrer; Rajaram Gopalakrishnan; Glen D Houston; David M Lewis; James Chodosh; John B Harley; Pamela Hughes; Jacen S Maier-Moore; Courtney G Montgomery; Nelson L Rhodus; A Darise Farris; Barbara M Segal; Roland Jonsson; Christopher J Lessard; R Hal Scofield; Kathy L Moser Sivils
Journal:  Ann Rheum Dis       Date:  2013-08-22       Impact factor: 19.103

9.  Relation of sensory peripheral neuropathy in Sjögren syndrome to anti-Ro/SSA.

Authors:  Amanda Kyle Scofield; Lida Radfar; John A Ice; Evan Vista; Juan-Manuel Anaya; Glen Houston; David Lewis; Donald U Stone; James Chodosh; Kimberly Hefner; Christopher J Lessard; Kathy L Moser; Robert Hal Scofield
Journal:  J Clin Rheumatol       Date:  2012-09       Impact factor: 3.517

10.  Many X-linked microRNAs escape meiotic sex chromosome inactivation.

Authors:  Rui Song; Seungil Ro; Jason D Michaels; Chanjae Park; John R McCarrey; Wei Yan
Journal:  Nat Genet       Date:  2009-03-22       Impact factor: 38.330

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  29 in total

1.  Reply.

Authors:  R Hal Scofield; Rohan Sharma; Valerie M Harris
Journal:  Arthritis Rheumatol       Date:  2018-02-22       Impact factor: 10.995

Review 2.  The multiple pathways to autoimmunity.

Authors:  Argyrios N Theofilopoulos; Dwight H Kono; Roberto Baccala
Journal:  Nat Immunol       Date:  2017-06-20       Impact factor: 25.606

Review 3.  Enjoy the silence: X-chromosome inactivation diversity in somatic cells.

Authors:  Isabel Sierra; Montserrat C Anguera
Journal:  Curr Opin Genet Dev       Date:  2019-05-17       Impact factor: 5.578

Review 4.  When the balance is broken: X-linked gene dosage from two X chromosomes and female-biased autoimmunity.

Authors:  Camille M Syrett; Montserrat C Anguera
Journal:  J Leukoc Biol       Date:  2019-05-24       Impact factor: 4.962

5.  Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome.

Authors:  Rohan Sharma; Valerie M Harris; Joshua Cavett; Biji T Kurien; Ke Liu; Kristi A Koelsch; Anum Fayaaz; Kaustubh S Chaudhari; Lida Radfar; David Lewis; Donald U Stone; C Erick Kaufman; Shibo Li; Barbara Segal; Daniel J Wallace; Michael H Weisman; Swamy Venuturupalli; Jennifer A Kelly; Bernardo Pons-Estel; Roland Jonsson; Xianglan Lu; Jacques-Eric Gottenberg; Juan-Manuel Anaya; Deborah S Cunninghame-Graham; Andrew J W Huang; Michael T Brennan; Pamela Hughes; Ilias Alevizos; Corinne Miceli-Richard; Edward C Keystone; Vivian P Bykerk; Gideon Hirschfield; Gunnel Nordmark; Sara Magnusson Bucher; Per Eriksson; Roald Omdal; Nelson L Rhodus; Maureen Rischmueller; Michael Rohrer; Marie Wahren-Herlenius; Torsten Witte; Marta Alarcón-Riquelme; Xavier Mariette; Christopher J Lessard; John B Harley; Wan-Fai Ng; Astrid Rasmussen; Kathy L Sivils; R Hal Scofield
Journal:  Arthritis Rheumatol       Date:  2017-10-12       Impact factor: 10.995

Review 6.  Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention.

Authors:  Nicole Tartaglia; Susan Howell; Shanlee Davis; Karen Kowal; Tanea Tanda; Mariah Brown; Cristina Boada; Amanda Alston; Leah Crawford; Talia Thompson; Sophie van Rijn; Rebecca Wilson; Jennifer Janusz; Judith Ross
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-06-07       Impact factor: 3.908

7.  Sjögren Syndrome without Focal Lymphocytic Infiltration of the Salivary Glands.

Authors:  Rohan Sharma; Kaustubh S Chaudhari; Biji T Kurien; Kiely Grundahl; Lida Radfar; David M Lewis; Christopher J Lessard; He Li; Astrid Rasmussen; Kathy L Sivils; R Hal Scofield
Journal:  J Rheumatol       Date:  2019-05-15       Impact factor: 4.666

8.  Salivary-gland-protective regulatory T-cell dysfunction underlies female-specific sialadenitis in the non-obese diabetic mouse model of Sjögren syndrome.

Authors:  Jennifer Y Barr; Xiaofang Wang; Portia A Kreiger; Scott M Lieberman
Journal:  Immunology       Date:  2018-05-31       Impact factor: 7.397

Review 9.  Female predisposition to TLR7-driven autoimmunity: gene dosage and the escape from X chromosome inactivation.

Authors:  Mélanie Souyris; José E Mejía; Julie Chaumeil; Jean-Charles Guéry
Journal:  Semin Immunopathol       Date:  2018-10-01       Impact factor: 9.623

10.  Loss of epigenetic modifications on the inactive X chromosome and sex-biased gene expression profiles in B cells from NZB/W F1 mice with lupus-like disease.

Authors:  Camille M Syrett; Isabel Sierra; Zachary T Beethem; Aimee H Dubin; Montserrat C Anguera
Journal:  J Autoimmun       Date:  2019-11-25       Impact factor: 7.094

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