Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure |
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| Institution: | 1. Constantine the Philosopher University, 949 74, Nitra, Slovakia;2. Research Institute of Animal Production, National Agricultural and Food Center, 951 41 Lu?ianky, Slovakia;3. King Saud University, College of Science, Zoology Department, 11451, Riyadh, Saudi Arabia;1. Departamento de Ciências Naturais, Universidade Federal de São João del Rei. Praça Dom Helvécio, 74 - Dom Bosco, São João del-Rei, MG, 36301-160, Brazil;2. Departamento de Morfologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Av. Pres. Antônio Carlos 6627, Belo Horizonte, MG, 31270-901, Brazil;3. Departamento de Zootecnia, ESALQ/Universidade de São Paulo, Av. Pádua Dias 11, Piracicaba, SP, 13418-900, Brazil;4. Embrapa Recursos Geneticos e Biotecnologia, PqEB, Av. W5 Norte, Brasília, DF, 70770-917, Brazil;1. Department of Urology, Krankenhaus Hietzing mit Neurologischem Zentrum Rosenhügel, Vienna, Austria;2. Department of Laboratory Medicine, Krankenhaus Hietzing mit Neurologischem Zentrum Rosenhügel, Vienna, Austria;3. Karl Landsteiner Institute for Clinical Risk Management, Vienna, Austria;4. Department of Urology, Royal Bournemouth and Christchurch Hospitals NHS Foundation Trust, Bournemouth, United Kingdom;5. Department of Surgery, University of Cambridge, Cambridge, United Kingdom;1. Department of Histology and Embryology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, 34098, Turkey;2. Department of Biochemistry, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, 34098, Turkey;1. Faculty of Medicine, Universiti Teknologi MARA, Sungai Buloh Campus, Selangor, Malaysia;2. I-PerFForm, Faculty of Medicine, Universiti Teknologi MARA, Sungai Buloh Campus, Selangor, Malaysia;1. Departments of Zoology, Faculty of Science, Damietta University, Egypt;2. Departments of Botany & Microbiology, Faculty of Science, Damietta University, Egypt |
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| Abstract: | Although the polymorphic heterochromatin regions of chromosomes (heteromorphisms) have been extensively studied for their phenotypic effects on humans, co-occurrences of chromosome 1, 9, 16 and Y heteromorphisms and of acrocentric variants have never been studied on humans with an objective scoring system. Here we compared the frequencies of individual heteromorphisms on a total of 602, 768 and 224 patients with the indications of infertility, recurrent miscarriage and in vitro fertilization (IVF) failure, respectively and on 272 controls. Then we examined whether there were significant co-occurrences between heteromorphisms within and between the groups. There were no statistically significant differences in the frequencies of heteromorphisms between the groups. Both statistically significant and non-significant correlations were observed within the non-acrocentric and certain acrocentric heteromorphisms in each group. When these co-occurrences were examined between the groups, a 2.2 fold increased risk of IVF failure in males in the presence of either chromosome 13 or chromosome 21 variants was observed (95 %CI:1.1–4.2). We conclude that the simultaneous manifestations of heteromorphisms have no effect on reproductive failure. There seems to be a correlation between the non-acrocentric heteromorphisms (1qh+, 9qh+, 16qh + and Yqh+/-), which might be the result of complex interactions of formation of these heterochromatin regions. The correlations observed between certain acrocentric chromosomes might be related to satellite association and nucleolus formation. The increased risk observed in males with IVF failure in the presence of either chromosome 13 or 21 variants should be interpreted cautiously due to the heterogeneity of the group. |
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| Keywords: | Heteromorphism Chromosome Infertility Recurrent miscarriage Recurrent implantation failure |
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