PMID- 20230920 OWN - NLM STAT- MEDLINE DCOM- 20120703 LR - 20120302 IS - 1873-0183 (Electronic) IS - 1568-9972 (Linking) VI - 11 IP - 5 DP - 2012 Mar TI - X chromosome monosomy in primary and overlapping autoimmune diseases. PG - 301-4 LID - 10.1016/j.autrev.2010.03.001 [doi] AB - Female predominance is a common characteristic for autoimmune diseases attributed to the combined effect of hormonal influence and genetic factors. Since X chromosome has immunologically important genes, the age related X chromosome loss could contribute to the development of autoimmunity. X chromosome monosomy (XCM) has been associated with primary biliary cirrhosis (PBC) and systemic sclerosis. Herein, using fluorescence in situ hybridization (FISH) with specific centromeric probes, we report the rate of XCM in interphase nuclei in women with Reynolds syndrome (RS), an overlapping condition of PBC and systemic sclerosis (SSc). Frequency of nuclei with XCM was 12.1% (CI 95%, 8.5-17.1) in RS, 10% (7.1-13.9) in PBC, 9.2% (6.0-13.9) in SSc and 6.4% (5.1-8) in age-matched healthy controls. We found a significantly higher XCM frequency in RS PBC and SSc groups of patients when compared with controls, p<0.01, p<0.05 and p<0.05 respectively. XCM was highest in the RS group but not statistically different from PBC and SSc patients. Fetal-maternal microchimerism prevalence evaluated by Q-PCR for SRY sequences varies among groups, although no statistical differences were observed. Besides the above, we found an apparently important additive effect (89.1%) of PBC and SSc on the prevalence of XCM cells in RS patients. Another interesting finding was that the prevalence of XCM cells seems not to be dependent on the time of evolution of the AID studied. Moreover, the shorter time of evolution and the higher prevalence of XCM interphase nuclei observed in RS patients sustain our hypothesis of the additive effect abovementioned. CI - Copyright A(c) 2010 Elsevier B.V. All rights reserved. FAU - Svyryd, Yevgeniya AU - Svyryd Y AD - Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion "Salvador Zubiran", Mexico. FAU - Hernandez-Molina, Gabriela AU - Hernandez-Molina G FAU - Vargas, Florencia AU - Vargas F FAU - Sanchez-Guerrero, Jorge AU - Sanchez-Guerrero J FAU - Segovia, Donato Alarcon AU - Segovia DA FAU - Mutchinick, Osvaldo M AU - Mutchinick OM LA - eng PT - Journal Article PT - Review DEP - 20100315 PL - Netherlands TA - Autoimmun Rev JT - Autoimmunity reviews JID - 101128967 SB - IM MH - Aged MH - Autoimmune Diseases/*genetics MH - Chimerism MH - *Chromosomes, Human, X MH - Female MH - Humans MH - Male MH - Middle Aged MH - *Monosomy MH - Sex Chromosome Aberrations EDAT- 2010/03/17 06:00 MHDA- 2012/07/04 06:00 CRDT- 2010/03/17 06:00 PHST- 2010/03/01 00:00 [received] PHST- 2010/03/09 00:00 [accepted] PHST- 2010/03/17 06:00 [entrez] PHST- 2010/03/17 06:00 [pubmed] PHST- 2012/07/04 06:00 [medline] AID - S1568-9972(10)00057-1 [pii] AID - 10.1016/j.autrev.2010.03.001 [doi] PST - ppublish SO - Autoimmun Rev. 2012 Mar;11(5):301-4. doi: 10.1016/j.autrev.2010.03.001. Epub 2010 Mar 15.