Epigenetic and genetic components of height regulation
نویسندگان
چکیده
Adult height is a highly heritable trait. Here we identified 31.6 million sequence variants by whole-genome sequencing of 8,453 Icelanders and tested them for association with adult height by imputing them into 88,835 Icelanders. Here we discovered 13 novel height associations by testing four different models including parent-of-origin (|β|=0.4-10.6 cm). The minor alleles of three parent-of-origin signals associate with less height only when inherited from the father and are located within imprinted regions (IGF2-H19 and DLK1-MEG3). We also examined the association of these sequence variants in a set of 12,645 Icelanders with birth length measurements. Two of the novel variants, (IGF2-H19 and TET1), show significant association with both adult height and birth length, indicating a role in early growth regulation. Among the parent-of-origin signals, we observed opposing parental effects raising questions about underlying mechanisms. These findings demonstrate that common variations affect human growth by parental imprinting.
منابع مشابه
Genetic and Epigenetic landscape of Germline Stem Cells
Elucidating the critical epigenetics events involved in differentiation and reprogramming of cells to primordial germ cells (PGCs) is among the interesting issues in stem cell research. Here, I will talk about critical transcription factors and global hypomethylation in development of germ cells. Evidence strongly suggests that the earliest PGCs emerging in the E7.25 mouse embryo epiblast have...
متن کاملHDAC Inhibitors and Heat Shock Proteins (Hsps)
Epigenetic alterations, including DNA acetylation, hypermethylation and hypomethylation, and the associated transcriptional changes of the affected genes are central to the evolution and progression of various human cancers, including pancreatic cancer. Cancer-associated epigenetic alterations are attractive therapeutic targets because such epigenetic alterations, unlike genetic changes, are po...
متن کاملAn Overview of the Epigenetic Modifications of Gene Expression in Tumorigenesis
The five leading causes of cancer-related deaths are lung (1,760,000 deaths), colorectal (862,000 deaths), stomach (783,000 deaths), liver (782,000 deaths), and breast (627,000 deaths) cancers. Epigenetic changes can alter chromatin compaction, leading to the regulation of geneexpression without changing the primary DNA sequence.Epigenetic mechanisms are normally involved incellular processes s...
متن کاملدرمان سرطان بر پایه اپی ژنتیک
Introduction: Epigenetics involves the study of heritable changes in the regulation of gene activity and expression that are not dependent on gene sequence. Main mechanisms of epigenetic modifications are DNA methylation, Histone modification and Nucleosome positioning. Several studies have shown that these modifications are related to cancer initiation, progression or tumor metastasis. In cont...
متن کاملLiquid Biopsy as a Minimally Invasive Source of Thyroid Cancer Genetic and Epigenetic Alterations
In the blood of cancer patients, some nucleic acid fragments and tumor cells can be found that make it possible to trace tumor changes through a simple blood test called “liquid biopsy”. The main components of liquid biopsy are fragments of DNA and RNA shed by tumors into the bloodstream and circulate freely( ctDNAs and ctRNAs). tumor cells which are shed into the blood (circulating tumor cells...
متن کاملEffects of Major Epigenetic Factors on Systemic Lupus Erythematosus
The pathogenesis of systemic lupus erythematosus (SLE) is influenced by both genetic factors and epigenetic modifications; the latter is a result of exposure to various environmental factors. Epigenetic modifications affect gene expression and alter cellular functions without modifying the genomic sequences. CpG-DNA methylation, histone modifications, and miRNAs are the main epigenetic factors ...
متن کامل