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DOI 10.1016/j.clim.2016.04.002

Медицинская библиотека · Clinical immunology (Orlando, Fla.) · 2016

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

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

СтатьяМногоцентровое исследованиеПоддержка NIH: внешняя программаПоддержка правительства СШАПеревод в очереди

Аннотация

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.

Для цитирования: Harris Valerie M, Sharma Rohan, Cavett Joshua, Kurien Biji T, Liu Ke, Koelsch Kristi A, Rasmussen Astrid, Radfar Lida, Lewis David, Stone Donald U, Kaufman C Erick, Li Shibo, Segal Barbara, Wallace Daniel J, Weisman Michael H, Venuturupalli Swamy, Kelly Jennifer A, Alarcon-Riquelme Marta E, Pons-Estel Bernardo, Jonsson Roland, Lu Xianglan, Gottenberg Jacques-Eric, Anaya Juan-Manuel, Cunninghame-Graham Deborah S, Huang Andrew J W, Brennan Michael T, Hughes Pamela, Alevizos Ilias, Miceli-Richard Corinne, Keystone Edward C, Bykerk Vivian P, Hirschfield Gideon, Xie Gang, Siminovitch Katherine A, Ng Wan-Fai, Nordmark Gunnel, Bucher Sara Magnusson, Eriksson Per, Omdal Roald, Rhodus Nelson L, Rischmueller Maureen, Rohrer Michael, Wahren-Herlenius Marie, Witte Torsten, Mariette Xavier, Lessard Christopher J, Harley John B, Sivils Kathy L, Scofield R Hal. Klinefelter's syndrome (47,XXY) is in excess among men with Sjögren's syndrome.. Clinical immunology (Orlando, Fla.). 2016. DOI: 10.1016/j.clim.2016.04.002.

Предметные рубрики MeSH

Arthritis, RheumatoidChromosomes, Human, XChromosomes, Human, YFemaleGene FrequencyGenotypeHumansKlinefelter SyndromeLupus Erythematosus, SystemicMalePolymorphism, Single NucleotideSjogren's Syndrome
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