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Functional and epigenetics

This section considers studies of the expression and regulation of genes by genetic and epigenetic mechanisms, in relation to human health and disease.

  1. We have recently developed a highly accurate urine-based test, named Urodiag®, associating FGFR3 mutation and DNA methylation assays for recurrence surveillance in patients with low-, intermediate-, and high-risk...

    Authors: Jean-Pierre Roperch and Claude Hennion
    Citation: BMC Medical Genetics 2020 21:112
    Content type: Technical advance Published on:

  3. Epigenetics could facilitate greater understanding of disparities in the emergence of childhood obesity. While blood is a common tissue used in human epigenetic studies, saliva is a promising tissue. Our prior...

    Authors: Amanda Rushing, Evan C. Sommer, Shilin Zhao, Eli K. Po’e and Shari L. Barkin
    Citation: BMC Medical Genetics 2020 21:34
    Content type: Research article Published on:

  6. Our preliminary bioinformatics analysis showed that lncRNA TINCR may absorb miR-214-5p by serving is sponge, while miR-214-5p targets ROCK1. This study aimed to investigate the interactions among these 3 facto...

    Authors: Min Hu, Yaowu Han, Ying Zhang, Yuanfeng Zhou and Lin Ye
    Citation: BMC Medical Genetics 2020 21:2
    Content type: Research article Published on:

    The Retraction Note to this article has been published in BMC Medical Genetics 2021 21:1178

  7. Ovarian cancer (OC) is the most deadly gynaecological cancer, contributing significantly to female cancer-related deaths worldwide. Improving the outlook for OC patients depends on the identification of more r...

    Authors: Qian Zhao and Conghong Fan
    Citation: BMC Medical Genetics 2019 20:103
    Content type: Research article Published on:

  8. HIF1A (Hypoxia-Inducible-Factor 1A) expression in solid tumors is relevant to establish resistance to therapeutic approaches. The use of compounds direct against hypoxia signaling and HIF1A does not show clini...

    Authors: Flora Cimmino, Marianna Avitabile, Vito Alessandro Lasorsa, Annalaura Montella, Lucia Pezone, Sueva Cantalupo, Feliciano Visconte, Maria Valeria Corrias, Achille Iolascon and Mario Capasso
    Citation: BMC Medical Genetics 2019 20:37
    Content type: Research article Published on:

  9. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis type 1 is an autosomal recessive disease characterized by excessive renal magnesium and calcium excretion, bilateral nephrocalcinosis, and prog...

    Authors: Ana Perdomo-Ramirez, Marian de Armas-Ortiz, Elena Ramos-Trujillo, Lorena Suarez-Artiles and Felix Claverie-Martin
    Citation: BMC Medical Genetics 2019 20:6
    Content type: Research article Published on:

  10. Klinefelter syndrome (KS) is characterized by the presence of at least one supernumerary X chromosome. KS typical symptoms include tall stature, gynecomastia, hypogonadism and azoospermia. KS patients show a h...

    Authors: Michele Salemi, Rossella Cannarella, Rosita A. Condorelli, Laura Cimino, Federico Ridolfo, Giorgio Giurato, Corrado Romano, Sandro La Vignera and Aldo E. Calogero
    Citation: BMC Medical Genetics 2019 20:4
    Content type: Research article Published on:

  11. We recently identified a role for the muscle-specific ubiquitin ligase MuRF1 in right-sided heart failure secondary to pulmonary hypertension induced by chronic hypoxia (CH). MuRF1−/− mice exposed to CH are re...

    Authors: Robert H. Oakley, Matthew J. Campen, Michael L. Paffett, Xin Chen, Zhongjing Wang, Traci L. Parry, Carolyn Hillhouse, John A. Cidlowski and Monte S. Willis
    Citation: BMC Medical Genetics 2018 19:175
    Content type: Research article Published on:

  12. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare inheritable disease that mainly affects eyelid development associated with (type I) or without (type II) ovarian dysfunction, resulting i...

    Authors: Lu Zhou, Jiaqi Wang and Tailing Wang
    Citation: BMC Medical Genetics 2018 19:121
    Content type: Research article Published on:

  13. Obesity is a well-recognized risk factor for insulin resistance and type 2 diabetes (T2D), although the precise mechanisms underlying the relationship remain unknown. In this study we identified alterations of...

    Authors: Francisco Barajas-Olmos, Federico Centeno-Cruz, Carlos Zerrweck, Iván Imaz-Rosshandler, Angélica Martínez-Hernández, Emilio J. Cordova, Claudia Rangel-Escareño, Faustino Gálvez, Armando Castillo, Hernán Maydón, Francisco Campos, Diana Gabriela Maldonado-Pintado and Lorena Orozco
    Citation: BMC Medical Genetics 2018 19:28
    Content type: Research article Published on:

  14. Hypoxia Inducible Factor 3 Alpha Subunit (HIF3A) DNA has been demonstrated to be associated with obesity in the methylation level, and it also has a Body Mass Index (BMI)-independent a...

    Authors: Shuo Wang, Jieyun Song, Yide Yang, Yining Zhang, Nitesh V. Chawla, Jun Ma and Haijun Wang
    Citation: BMC Medical Genetics 2017 18:80
    Content type: Research article Published on:

  15. Pituitary adenoma (PA) is a benign brain tumor that can cause neurological, endocrinological and ophthalmological aberrations. Till now there is a need to identify factors that can influence the tumor invasive...

    Authors: Indre Valiulyte, Giedrius Steponaitis, Daina Skiriute, Arimantas Tamasauskas and Paulina Vaitkiene
    Citation: BMC Medical Genetics 2017 18:72
    Content type: Research article Published on:

  16. Childhood trauma is associated with increased vulnerability to mental and somatic disorders later in life. Epigenetic modifications such as DNA methylation are one potential mechanism through which such long-l...

    Authors: Zoya Marinova, Andreas Maercker, Andreas Küffer, Mark D. Robinson, Tomasz K. Wojdacz, Susanne Walitza, Edna Grünblatt and Andrea Burri
    Citation: BMC Medical Genetics 2017 18:21
    Content type: Research article Published on:

  17. Genetic studies to date have not provided satisfactory evidence regarding risk polymorphisms for cardiovascular disease (CVD). Conversely, epigenetic mechanisms, including DNA methylation, seem to influence th...

    Authors: Ramon Bossardi Ramos, Vitor Fabris, Sheila Bunecker Lecke, Maria Augusta Maturana and Poli Mara Spritzer
    Citation: BMC Medical Genetics 2016 17:71
    Content type: Research article Published on:

  18. Transient neonatal diabetes mellitus 1 (TNDM1) is a rare imprinting disorder characterized by intrautering growth retardation and diabetes mellitus usually presenting within the first six weeks of life and res...

    Authors: Mads Bak, Susanne E. Boonen, Christina Dahl, Johanne M. D. Hahnemann, Deborah J. D. G. Mackay, Zeynep Tümer, Karen Grønskov, I. Karen Temple, Per Guldberg and Niels Tommerup
    Citation: BMC Medical Genetics 2016 17:29
    Content type: Research article Published on:

  19. Maternal perception of reduced fetal movements (RFM) is associated with increased risk of fetal growth restriction (FGR) and stillbirth, mediated by placental insufficiency. The maternally expressed imprinted ...

    Authors: Anna Bugge Janssen, Simon J. Tunster, Alexander E. P. Heazell and Rosalind M. John
    Citation: BMC Medical Genetics 2016 17:17
    Content type: Research article Published on:

  20. miRNAs control important cellular functions including angiogenesis/angiostasis or fibrosis and reveal altered expression during pathological processes in the lung.

    Authors: Justyna Kiszałkiewicz, Wojciech J. Piotrowski, Dorota Pastuszak-Lewandoska, Paweł Górski, Adam Antczak, Witold Górski, Daria Domańska-Senderowska, Monika Migdalska-Sęk, Karolina H. Czarnecka, Ewa Nawrot and Ewa Brzeziańska-Lasota
    Citation: BMC Medical Genetics 2016 17:2
    Content type: Research article Published on:

  21. Regular aspirin use reduces colon adenoma and carcinoma incidence. UDP-glucuronosyltransferases (UGT) are involved in aspirin metabolism and clearance, and variant alleles in UGT1A6 have been shown to alter salic...

    Authors: Sushma S Thomas, Karen W Makar, Lin Li, Yingye Zheng, Peiying Yang, Lisa Levy, Rebecca Yvonne Rudolph, Paul D Lampe, Min Yan, Sanford D Markowitz, Jeannette Bigler, Johanna W Lampe and John D Potter
    Citation: BMC Medical Genetics 2015 16:18
    Content type: Research article Published on:

  22. Offspring of pregnancy complicated with gestational diabetes (GDM) are at high risk for metabolic diseases. The mechanisms behind the association of intrauterine exposure to GDM and high risk of health problem...

    Authors: Danqing Chen, Aiping Zhang, Min Fang, Rong Fang, Jiamei Ge, Yuan Jiang, Hong Zhang, Cong Han, Xiaoqun Ye, Hefeng Huang, Yun Liu and Minyue Dong
    Citation: BMC Medical Genetics 2014 15:108
    Content type: Research article Published on:

  23. Numerous studies have shown sex differences in the onset and severity of hypertension. Despite these sex-differences the majority of animal studies are carried out in males. This study investigated expression ...

    Authors: Christine L Chiu, Kristy L Jackson, Nerissa L Hearn, Nicole Steiner, Geoffrey A Head and Joanne M Lind
    Citation: BMC Medical Genetics 2014 15:101
    Content type: Research article Published on:

  24. Mutations in the SQSTM1/p62 gene have been reported in Paget’s disease of bone (PDB), but they are not sufficient to induce the pagetic osteoclast (OC) phenotype. We hypothesized that specific RNA isoforms of OC-...

    Authors: Roscoe Klinck, Gino Laberge, Martine Bisson, Stephen McManus, Laëtitia Michou, Jacques P Brown and Sophie Roux
    Citation: BMC Medical Genetics 2014 15:98
    Content type: Research article Published on:

  25. To uncover the genes involved in the development of osteosarcoma (OS), we performed a meta-analysis of OS microarray data to identify differentially expressed genes (DEGs) and biological functions associated w...

    Authors: Zuozhang Yang, Yongbin Chen, Yu Fu, Yihao Yang, Ya Zhang, Yanjin Chen and Dongqi Li
    Citation: BMC Medical Genetics 2014 15:80
    Content type: Research article Published on:

  26. Drug metabolism via the cytochrome P450 (CYP450) system has emerged as an important determinant in the occurrence of several drug interactions (adverse drug reactions, reduced pharmacological effect, drug toxi...

    Authors: Giulia Berno, Mauro Zaccarelli, Caterina Gori, Massimo Tempestilli, Andrea Antinori, Carlo Federico Perno, Leopoldo Paolo Pucillo and Roberta D’Arrigo
    Citation: BMC Medical Genetics 2014 15:76
    Content type: Technical advance Published on:

  27. There is a substantial genetic component for birthweight variation, and although there are known associations between fetal genotype and birthweight, the role of common epigenetic variation in influencing the ...

    Authors: Rinki Murphy, John MD Thompson, Jörg Tost and Edwin A Mitchell
    Citation: BMC Medical Genetics 2014 15:67
    Content type: Research article Published on:

  28. The majority of Osteogenesis Imperfecta (OI) cases are caused by mutations in one of the two genes, COL1A1 and COL1A2 encoding for the two chains that trimerize to form the procollagen 1 molecule. However, altera...

    Authors: Carla M Kaneto, Patrícia SP Lima, Dalila L Zanette, Karen L Prata, João M Pina Neto, Francisco JA de Paula and Wilson A Silva Jr
    Citation: BMC Medical Genetics 2014 15:45
    Content type: Research article Published on:

  29. To identify transcription factors (TFs) and single nucleotide polymorphisms (SNPs) of Lrh1 (also named Nr5a2) and its homologous genes in Lrh1-knockout pancreas of mice.

    Authors: Maochun Tang, Li Cheng, Rongrong Jia, Lei Qiu, Hua Liu, Shu Zhou, Xiuying Ma, Guoyong Hu, Xingpeng Wang and Yan Zhao
    Citation: BMC Medical Genetics 2014 15:43
    Content type: Research article Published on:

  30. Widespread abnormalities in white matter development are frequently reported in cases of autism spectrum disorders (ASD) and could be involved in the disconnectivity suggested in these disorders. Homozygous mu...

    Authors: Isabelle Scheid, Anna Maruani, Guillaume Huguet, Claire S Leblond, Gudrun Nygren, Henrik Anckarsäter, Anita Beggiato, Maria Rastam, Fréderique Amsellem, I Carina Gillberg, Monique Elmaleh, Marion Leboyer, Christopher Gillberg, Catalina Betancur, Mary Coleman, Hiroko Hama…
    Citation: BMC Medical Genetics 2013 14:124
    Content type: Research article Published on:

  31. Germ-line mutations in the DNA mismatch repair genes MLH1, MSH2, and MSH6 predispose to the development of colorectal cancer (Lynch syndrome or hereditary nonpolyposis colorectal cancer). These mutations include ...

    Authors: Sanne M Petersen, Mette Dandanell, Lene J Rasmussen, Anne-Marie Gerdes, Lotte N Krogh, Inge Bernstein, Henrik Okkels, Friedrik Wikman, Finn C Nielsen and Thomas v O Hansen
    Citation: BMC Medical Genetics 2013 14:103
    Content type: Research article Published on:

  32. DNA methylation at specific CpG sites within gene promoter regions is known to regulate transcriptional activity in vitro. In human adipose tissue, basal transcription of the aromatase (CYP19A1) gene is driven pr...

    Authors: Joshua R Lewis, Tegan J McNab, Lawrence J Liew, Jeremy Tan, Phillip Hudson, Jenny Z Wang and Richard L Prince
    Citation: BMC Medical Genetics 2013 14:87
    Content type: Research article Published on:

  33. Insulin secretion is enhanced upon the binding of Glucagon-like peptide-1 (GLP-1) to its receptor (GLP1R) in pancreatic β cells. Although a reduced expression of GLP1R in pancreatic islets from type 2 diabetic pa...

    Authors: Elin Hall, Tasnim Dayeh, Clare L Kirkpatrick, Claes B Wollheim, Marloes Dekker Nitert and Charlotte Ling
    Citation: BMC Medical Genetics 2013 14:76
    Content type: Research article Published on:

  34. There is growing evidence supporting a role for microRNAs (miRNA) as targets in aberrant mechanisms of DNA hypermethylation. Epigenetic silencing of tumor suppressor miRNAs, including miR-663, which has recent...

    Authors: Tao Yan-Fang, Ni Jian, Lu Jun, Wang Na, Xiao Pei-Fang, Zhao Wen-Li, Wu Dong, Pang Li, Wang Jian, Feng Xing and Pan Jian
    Citation: BMC Medical Genetics 2013 14:74
    Content type: Research article Published on:

  35. Cystic fibrosis (CF) is a monogenic disease caused by CFTR gene mutations, with clinical expression similar to complex disease, influenced by genetic and environmental factors. Among the possible modifier genes, ...

    Authors: Fernando Augusto de Lima Marson, Carmen Sílvia Bertuzzo, Rodrigo Secolin, Antônio Fernando Ribeiro and José Dirceu Ribeiro
    Citation: BMC Medical Genetics 2013 14:60
    Content type: Research article Published on:

  36. Vascular endothelial growth factor A (VEGFA) is a major regulator of both physiological and pathological angiogenesis. Associations between polymorphisms in VEGFA and complex disease have been inconsistent. The p...

    Authors: Christine L Chiu, Chloe T Morgan, Samantha J Lupton and Joanne M Lind
    Citation: BMC Medical Genetics 2013 14:43
    Content type: Research article Published on:

  37. Asthma is a common respiratory disease that is characterized by bronchial hyperresponsiveness and airway obstruction due to chronic airway inflammation. Atopic asthma is a typical IgE-mediated disease in which...

    Authors: Yoon-Jeong Kim, Sung-Woo Park, Tae-Hoon Kim, Jong-Sook Park, Hyun Sub Cheong, Hyoung Doo Shin and Choon-Sik Park
    Citation: BMC Medical Genetics 2013 14:39
    Content type: Research article Published on:

  38. Fragile X syndrome (FXS) is a common form of inherited intellectual disability caused by an expansion of CGG repeats located in the 5′ untranslated region (UTR) of the FMR1 gene, which leads to hypermethylation a...

    Authors: Reid S Alisch, Tao Wang, Pankaj Chopra, Jeannie Visootsak, Karen N Conneely and Stephen T Warren
    Citation: BMC Medical Genetics 2013 14:18
    Content type: Research article Published on:

  39. The selection pressure imposed by the parasite has a functional consequence on the immune genes, leading to altered immune function in which regulatory T cells (Tregs) induced by parasites during infectious ch...

    Authors: Xiangsheng Huang, Vera Kühne, Jürgen F J Kun, Peter T Soboslay, Bertrand Lell and Velavan TP
    Citation: BMC Medical Genetics 2012 13:117
    Content type: Research article Published on:

  40. Atherosclerosis is a complex process involving both genetic and epigenetic factors. The monoamine oxidase A (MAOA) gene regulates the metabolism of key neurotransmitters and has been associated with cardiovascula...

    Authors: Jinying Zhao, Christopher W Forsberg, Jack Goldberg, Nicholas L Smith and Viola Vaccarino
    Citation: BMC Medical Genetics 2012 13:100
    Content type: Research article Published on:

  41. Loss of methylation (LOM) at imprinting control region (ICR) 1 or LOM at ICR 2 on chromosome 11p15 in leucocyte DNA is commonly used to diagnose the imprinting disorders Silver Russell syndrome (SRS) character...

    Authors: Rinki Murphy, Deborah Mackay and Ed A Mitchell
    Citation: BMC Medical Genetics 2012 13:99
    Content type: Case report Published on:

  42. One of the genes suggested to play an important role in the pathophysiology of bipolar disorder (BPD) is PDLIM5, which encodes LIM domain protein. Our main objective was to examine the effect of olanzapine treatm...

    Authors: Mohd Aizat Zain, Suffee Nusrat Jahan, Gavin P Reynolds, Nor Zuraida Zainal, Sharmilla Kanagasundram and Zahurin Mohamed
    Citation: BMC Medical Genetics 2012 13:91
    Content type: Research article Published on:

  43. There is evidence that one of the key type 2 diabetes (T2D) loci identified by GWAS exerts its influence early on in life through its impact on pediatric BMI. This locus on 10q23 harbors three genes, encoding ...

    Authors: Jianhua Zhao, Sandra Deliard, Ali Rahim Aziz and Struan FA Grant
    Citation: BMC Medical Genetics 2012 13:89
    Content type: Research article Published on:

  44. Although Duchenne and Becker muscular dystrophies, X-linked recessive myopathies, predominantly affect males, a clinically significant proportion of females manifesting symptoms have also been reported. They r...

    Authors: Simona Brioschi, Francesca Gualandi, Chiara Scotton, Annarita Armaroli, Matteo Bovolenta, Maria S Falzarano, Patrizia Sabatelli, Rita Selvatici, Adele D’Amico, Marika Pane, Giulia Ricci, Gabriele Siciliano, Silvana Tedeschi, Antonella Pini, Liliana Vercelli, Domenico De Grandis…
    Citation: BMC Medical Genetics 2012 13:73
    Content type: Research article Published on:

  45. Antisense oligomer induced exon skipping aims to reduce the severity of Duchenne muscular dystrophy by redirecting splicing during pre-RNA processing such that the causative mutation is by-passed and a shorter...

    Authors: Clayton T Fragall, Abbie M Adams, Russell D Johnsen, Ryszard Kole, Sue Fletcher and Steve D Wilton
    Citation: BMC Medical Genetics 2011 12:141
    Content type: Research article Published on:

  46. MEFV mutations and decreased expression level of the gene are related to FMF pathology. DNA methylation at CpG islands is a well-known mechanism for transcriptional silencing. MEFV has a CpG island, spanning a...

    Authors: Asli K Kirectepe, Ozgur Kasapcopur, Nil Arisoy, Gokce Celikyapi Erdem, Gulen Hatemi, Huri Ozdogan and Eda Tahir Turanli
    Citation: BMC Medical Genetics 2011 12:105
    Content type: Research article Published on:

  47. Fundamental to definitively identifying neonates at risk of developing significant hyperbilirubinemia is a better understanding of the genetic factors associated with early bilirubin rise. Previous genetic stu...

    Authors: Neil A Hanchard, Jennifer Skierka, Amy Weaver, Brad S Karon, Dietrich Matern, Walter Cook and Dennis J O'Kane
    Citation: BMC Medical Genetics 2011 12:57
    Content type: Research article Published on:

  49. Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in one of two genes, TSC1 or TSC2, which encode the proteins hamartin and tuberin, respectively [1–3]. Common fe...

    Authors: Garilyn M Jentarra, Stephen G Rice, Shannon Olfers, David Saffen and Vinodh Narayanan
    Citation: BMC Medical Genetics 2011 12:29
    Content type: Research article Published on:

  50. Recent studies have reported the clinical importance of CYP2C19 and ABCB1 polymorphisms in an individualized approach to clopidogrel treatment. The aims of this study were to evaluate the frequencies of CYP2C19 a...

    Authors: Paulo CJL Santos, Renata AG Soares, Diogo BG Santos, Raimundo M Nascimento, George LLM Coelho, José C Nicolau, José G Mill, José E Krieger and Alexandre C Pereira
    Citation: BMC Medical Genetics 2011 12:13
    Content type: Research article Published on:

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