Parent-of-origin effects were first recorded >3000 years ago by mule breeders in Asia Minor. There are now several different types of evidence suggesting the presence of a large number of imprinted genes, many of which have not yet been identified. Here, we catalogue a wide range of evidence and phenomena which indicate or suggest the presence of genomic imprinting in animals. This evidence includes: the direct documentation of parent-of-origin-specific gene transcription; human disease inheritance patterns which suggest the involvement of imprinted genes; and older, less well studied animal models which may show parent-of-origin effects.
The imprinted gene and parent-of-origin effect database () consists of two sections. One section catalogues the current literature on imprinted genes in humans and animals. The second, and new, section catalogues current reports of parental origin of de novo mutations in humans alone. The addition of a catalogue of de novo mutations that show a parent-of-origin effect expands the scope of the database and provides a useful tool for examining parental origin trends for different types of spontaneous mutations. This new section includes >1700 mutations, found in 59 different disorders. The 85 imprinted genes are described in 152 entries from several mammalian species. In addition, >300 other entries describe a range of reported parent-of-origin effects in animals.
Monozygotic twins are considered to be genetically identical, yet can show high discordance in their phenotypes and disease
susceptibility. Several studies have emphasized the influence of external factors and the role of epigenetic polymorphism in
conferring this variability. However, some recent high-resolution studies on DNA methylation show contradicting evidence, which
poses questions on the extent of epigenetic variability between twins. The advent of next-generation sequencing technologies now
allow us to interrogate multiple epigenomes on a massive scale and understand the role of epigenetic modification, especially DNA
methylation, in regulating complex traits. This article briefly discusses the recent key findings, unsolved questions in the area, and
speculates on the future directions in the field
Background
Myeloma survival has greatly increased over past decades. We investigated trends in survival over time in New Zealand by age, ethnicity, and geography and thus examined potential inequalities among these population subgroups.
Methods
From data supplied by the New Zealand Ministry of Health, all new diagnoses of multiple myeloma (ICD-10 code C90) between 1990 and 2016 were extracted, as well as their matched mortality data. Cox’s proportional hazards regression and competing risks regression were used to estimate multivariable survival functions.
Results
Between 1 January 1990 and 1 December 2015, 6642 myeloma cases were registered by the New Zealand Cancer Registry. Although survival from myeloma increased substantially from 1990–1994 to 2010–2015, 5-year survival was still only about 60% in 2010–2015. The greatest improvement in survival was for people aged 60–69 years at diagnosis. Using Cox’s proportional hazards regression, Māori showed an increased risk of myeloma death but this was predominantly due to differences in competing risks among ethnic groups. Competing risks analysis found the greatest improvement in myeloma survival in Pacific Islanders, and in 2010–2015 Māori had better survival than other ethnicities. Myeloma survival improved significantly over time in all regional health authorities but in all time periods the Central and Southern regions had significantly poorer survival than the Midland region.
Conclusions
Improvements in myeloma survival have been unequal across subgroups and regions in New Zealand. Detailed information about utilization of chemotherapeutic agents and transplantation in New Zealand is not available. This information, as well as more detailed hematological data, is essential to further explore the relationships and reasons for differing myeloma survival in population subgroups of New Zealand.
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