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Genomic epidemiology

This section considers studies of the association of genetic factors or variations in the human genome with human health and disease, their prevalence within families and populations, their interactions with environmental factors, and their contribution to disease risk.

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  1. Hypertension is a major modifiable risk factor for arteriosclerosis that can lead to target organ damage (TOD) of heart, kidneys, and peripheral arteries. A recent epigenome-wide association study for blood pr...

    Authors: Minjung Kho, Wei Zhao, Scott M. Ratliff, Farah Ammous, Thomas H. Mosley, Lulu Shang, Sharon L. R. Kardia, Xiang Zhou and Jennifer A. Smith

    Citation: BMC Medical Genomics 2020 13:131

    Content type: Research article

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  2. Childhood-onset asthma is highly affected by genetic components. In recent years, many genome-wide association studies (GWAS) have reported a large group of genetic variants and susceptible genes associated wi...

    Authors: Xiuqing Ma, Peilan Wang, Guobing Xu, Fang Yu and Yunlong Ma

    Citation: BMC Medical Genomics 2020 13:123

    Content type: Research article

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  3. Whether high blood pressure has a causal effect on cognitive function as early as middle age is unclear. We investigated whether high blood pressure (BP) causally impairs cognitive function at midlife using Me...

    Authors: Daokun Sun, Emy A. Thomas, Lenore J. Launer, Stephen Sidney, Kristine Yaffe and Myriam Fornage

    Citation: BMC Medical Genomics 2020 13:121

    Content type: Research article

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  4. Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture...

    Authors: Thomas W. Winkler, Felix Grassmann, Caroline Brandl, Christina Kiel, Felix Günther, Tobias Strunz, Lorraine Weidner, Martina E. Zimmermann, Christina A. Korb, Alicia Poplawski, Alexander K. Schuster, Martina Müller-Nurasyid, Annette Peters, Franziska G. Rauscher, Tobias Elze, Katrin Horn…

    Citation: BMC Medical Genomics 2020 13:120

    Content type: Research article

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  5. Pan-cancer studies of somatic copy number alterations (SCNAs) have demonstrated common SCNA patterns across cancer types, but despite demonstrable differences in aggressiveness of some cancers by race, pan-can...

    Authors: Yalei Chen, Sudha M. Sadasivan, Ruicong She, Indrani Datta, Kanika Taneja, Dhananjay Chitale, Nilesh Gupta, Melissa B. Davis, Lisa A. Newman, Craig G. Rogers, Pamela L. Paris, Jia Li, Benjamin A. Rybicki and Albert M. Levin

    Citation: BMC Medical Genomics 2020 13:116

    Content type: Research article

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  6. Obstructive sleep apnea (OSA) is defined by frequent episodes of reduced or complete cessation of airflow during sleep and is linked to negative health outcomes. Understanding the genetic factors influencing e...

    Authors: Olivia J. Veatch, Christopher R. Bauer, Brendan T. Keenan, Navya S. Josyula, Diego R. Mazzotti, Kanika Bagai, Beth A. Malow, Janet D. Robishaw, Allan I. Pack and Sarah A. Pendergrass

    Citation: BMC Medical Genomics 2020 13:105

    Content type: Research article

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  7. Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio plus testing and between trio and sibship testing. Fi...

    Authors: Ahmed Alfares, Lamia Alsubaie, Taghrid Aloraini, Aljoharah Alaskar, Azza Althagafi, Ahmed Alahmad, Mamoon Rashid, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Faroug Ababneh, Mohammed Albalwi, Raniah Alotaibi, Mashael Almutairi, Nouf Altharawi, Alhanouf Alsamer…

    Citation: BMC Medical Genomics 2020 13:103

    Content type: Research article

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  8. BMI is a strong indicator of complications from type I diabetes, especially under intensive treatment.

    Authors: Agnieszka H. Ludwig-Słomczyńska, Michał T. Seweryn, Przemysław Kapusta, Ewelina Pitera, Samuel K. Handelman, Urszula Mantaj, Katarzyna Cyganek, Paweł Gutaj, Łucja Dobrucka, Ewa Wender-Ożegowska, Maciej T. Małecki and Paweł P. Wołkow

    Citation: BMC Medical Genomics 2020 13:97

    Content type: Research article

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  9. Age-related macular degeneration (AMD) is a progressive retinal disease contributing to blindness worldwide. Multiple estimates for AMD heritability (h2) exist; however, a substantial proportion of h2 is not attr...

    Authors: Andrea R. Waksmunski, Michelle Grunin, Tyler G. Kinzy, Robert P. Igo Jr, Jonathan L. Haines and Jessica N. Cooke Bailey

    Citation: BMC Medical Genomics 2020 13:95

    Content type: Research article

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  10. Xp11.22 duplications have been reported to contribute to nonsyndromic intellectual disability (ID). The HUWE1 gene has been identified in all male Xp11.22 duplication patients and is associated with nonsyndromic ...

    Authors: Qingming Wang, Pengliang Chen, Jianxin Liu, Jiwu Lou, Yanhui Liu and Haiming Yuan

    Citation: BMC Medical Genomics 2020 13:66

    Content type: Case report

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  11. Obesity is common among kidney transplant recipients; However biological mediators of obesity are not well understood in this population. Because subcutaneous adipose tissue can be easily obtained during kidne...

    Authors: Rosario B. Jaime-Lara, Abhrarup Roy, Yupeng Wang, Ansley Stanfill, Ann K. Cashion and Paule V. Joseph

    Citation: BMC Medical Genomics 2020 13:37

    Content type: Research article

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  12. Multifocal lung cancers (MLCs) are common in patients newly diagnosed with lung cancer, and histological results of most synchronous MLCs are similar. Few cases with different histology findings have been repo...

    Authors: Licheng Wu, Poming Kang, Shaolin Tao, Zhikun Zhao, Longyun Chen, Yajie Xiao and Qunyou Tan

    Citation: BMC Medical Genomics 2020 13:15

    Content type: Case report

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  13. Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide, especially in East Asia. Even with the progress in therapy, 5-year survival rates remain unsatisfied. Chronic infection with the hepa...

    Authors: Suofeng Sun, Yuan Li, Shuangyin Han, Hongtao Jia, Xiuling Li and Xiaofang Li

    Citation: BMC Medical Genomics 2019 12:147

    Content type: Research article

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  14. Systemic sclerosis (SSc) is a rare autoimmune connective tissue disease whose pathogenesis remains incompletely understood. Increasing evidence suggests that both genetic susceptibilities and changes in DNA me...

    Authors: Tianyuan Lu, Kathleen Oros Klein, Inés Colmegna, Maximilien Lora, Celia M. T. Greenwood and Marie Hudson

    Citation: BMC Medical Genomics 2019 12:144

    Content type: Research article

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  15. Epigenetic age acceleration, a measure of biological aging based on DNA methylation, is associated with cardiovascular mortality. However, little is known about its relationship with hypertensive target organ ...

    Authors: Jennifer A. Smith, Jeremy Raisky, Scott M. Ratliff, Jiaxuan Liu, Sharon L. R. Kardia, Stephen T. Turner, Thomas H. Mosley and Wei Zhao

    Citation: BMC Medical Genomics 2019 12:141

    Content type: Research article

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  16. Although APOBEC-mutational signature is found in tumor tissues of multiple cancers, how a common germline APOBEC3A/B deletion affects the mutational signature remains unclear.

    Authors: Zhishan Chen, Wanqing Wen, Jiandong Bao, Krystle L. Kuhs, Qiuyin Cai, Jirong Long, Xiao-ou Shu, Wei Zheng and Xingyi Guo

    Citation: BMC Medical Genomics 2019 12:131

    Content type: Research article

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  17. Pneumonia, sepsis, meningitis, and empyema due to Streptococcus pneumoniae is a major cause of morbidity and mortality. We provide a systemic overview of genetic variants associated with susceptibility, phenotype...

    Authors: Anne T. Kloek, Matthijs C. Brouwer and Diederik van de Beek

    Citation: BMC Medical Genomics 2019 12:130

    Content type: Research article

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  18. P. falciparum malaria has been recognized as one of the prominent evolutionary selective forces of human genome that led to the emergence of multiple host protective alleles. A comprehensive understanding of the ...

    Authors: Delesa Damena, Awany Denis, Lemu Golassa and Emile R. Chimusa

    Citation: BMC Medical Genomics 2019 12:120

    Content type: Review

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  19. The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences res...

    Authors: Magdalena Pasińska, Rafał Adamczak, Anna Repczyńska, Ewelina Łazarczyk, Barbara Iskra, Agata Klaudia Runge and Olga Haus

    Citation: BMC Medical Genomics 2019 12:85

    Content type: Case report

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  20. Genetic diversity is greatest within Africa, in particular the KhoeSan click-speaking peoples of southern Africa. South African populations represent admixture fractions including differing degrees of African,...

    Authors: Desiree C. Petersen, Weerachai Jaratlerdsiri, Abraham van Wyk, Eva K. F. Chan, Pedro Fernandez, Ruth J. Lyons, Shingai B. A. Mutambirw, Andre van der Merwe, Philip A. Venter, William Bates, M. S. Riana Bornman and Vanessa M. Hayes

    Citation: BMC Medical Genomics 2019 12:82

    Content type: Research article

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  21. Congenital hearing loss affects approximately 1–2 infants out of every 1000, with 50% of the cases resulting from genetic factors. Targeted gene panels have been widely used for genetic diagnosis of hearing lo...

    Authors: Yu Sun, Jiale Xiang, Yidong Liu, Sen Chen, Jintao Yu, Jiguang Peng, Zijing Liu, Lisha Chen, Jun Sun, Yun Yang, Yaping Yang, Yulin Zhou and Zhiyu Peng

    Citation: BMC Medical Genomics 2019 12:76

    Content type: Research article

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  22. Genomic services are increasingly accessible to young adults starting their independent lives with responsibility for their self-care, yet their attitudes to sharing genomic information remain under-researched...

    Authors: Pepita Barnard, Sarah Sharples, Brian J. Thomson and Jonathan M. Garibaldi

    Citation: BMC Medical Genomics 2019 12:55

    Content type: Research article

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  23. Cardiomyopathies affect more than 0.5% of the general population. They are associated with high risk of sudden cardiac death, which can result from either heart failure or electrical abnormalities. Although di...

    Authors: Marwan M. Refaat, Sylvana Hassanieh, Jad A. Ballout, Patrick Zakka, Mostafa Hotait, Athar Khalil, Fadi Bitar, Mariam Arabi, Samir Arnaout, Hadi Skouri, Antoine Abchee, Bernard Abi-Saleh, Maurice Khoury, Andreas Massouras and Georges Nemer

    Citation: BMC Medical Genomics 2019 12:33

    Content type: Research article

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  24. Microtia-atresia is characterized by abnormalities of the auricle (microtia) and aplasia or hypoplasia of the external auditory canal, often associated with middle ear abnormalities. To date, no causal genetic...

    Authors: Pu Wang, Yibei Wang, Xinmiao Fan, Yaping Liu, Yue Fan, Tao Liu, Chongjian Chen, Shuyang Zhang and Xiaowei Chen

    Citation: BMC Medical Genomics 2019 12:28

    Content type: Research article

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  25. The etiology and mechanism of spontaneous preterm birth (sPTB) are still unclear. Accumulating evidence has documented that various environmental exposure scenarios may cause maternal and fetal epigenetic chan...

    Authors: Xi-Meng Wang, Fu-Ying Tian, Li-Jun Fan, Chuan-Bo Xie, Zhong-Zheng Niu and Wei-Qing Chen

    Citation: BMC Medical Genomics 2019 12:1

    Content type: Research article

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  26. Biliary atresia (BA), a fibrosing disorder of the developing biliary tract leading to liver failure in infancy, has an elevated incidence in indigenous New Zealand (NZ) Māori. We investigated a high rate of BA...

    Authors: Sophia R. Cameron-Christie, Justin Wilde, Andrew Gray, Rick Tankard, Melanie Bahlo, David Markie, Helen M. Evans and Stephen P. Robertson

    Citation: BMC Medical Genomics 2018 11:121

    Content type: Research article

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  27. Myocardial infarction (MI) is a multifactorial disease with complex pathogenesis, mainly the result of the interplay of genetic and environmental risk factors. The regulation of thrombosis, inflammation and ch...

    Authors: Panagiota Kontou, Athanasia Pavlopoulou, Georgia Braliou, Spyridoula Bogiatzi, Niki Dimou, Sripal Bangalore and Pantelis Bagos

    Citation: BMC Medical Genomics 2018 11:109

    Content type: Research article

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  28. Molecular analyses such as whole-genome sequencing have become routine and are expected to be transformational for future healthcare and lifestyle decisions. Population-wide implementation of such analyses is,...

    Authors:

    Citation: BMC Medical Genomics 2018 11:108

    Content type: Research article

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    The Data Descriptor to this article has been published in Scientific Data 2019 6:257

  29. Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common f...

    Authors: Morag A. Lewis, Lisa S. Nolan, Barbara A. Cadge, Lois J. Matthews, Bradley A. Schulte, Judy R. Dubno, Karen P. Steel and Sally J. Dawson

    Citation: BMC Medical Genomics 2018 11:77

    Content type: Research article

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  30. Gestational diabetes (GDM) is a more common problem in India than in many other parts of the world but it is not known whether this is due to unique environmental factors or a unique genetic background. To add...

    Authors: Geeti P. Arora, Peter Almgren, Charlotte Brøns, Richa G. Thaman, Allan A. Vaag, Leif Groop and Rashmi B. Prasad

    Citation: BMC Medical Genomics 2018 11:64

    Content type: Research article

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  31. Recently, 34 genes had been associated with differential expression relative to blood pressure (BP)/ hypertension (HTN). We hypothesize that some of the genes associated with BP/HTN are also associated with BP...

    Authors: Ana Caroline C. Sá, Amy Webb, Yan Gong, Caitrin W. McDonough, Mohamed H. Shahin, Somnath Datta, Taimour Y. Langaee, Stephen T. Turner, Amber L. Beitelshees, Arlene B. Chapman, Eric Boerwinkle, John G. Gums, Steven E. Scherer, Rhonda M. Cooper-DeHoff, Wolfgang Sadee and Julie A. Johnson

    Citation: BMC Medical Genomics 2018 11:55

    Content type: Research article

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  32. Developmental delay (DD) and intellectual disability (ID) are frequently associated with a broad spectrum of additional phenotypes. Chromosomal microarray analysis (CMA) has been recommended as a first-tier te...

    Authors: Yanjie Fan, Yanming Wu, Lili Wang, Yu Wang, Zhuwen Gong, Wenjuan Qiu, Jingmin Wang, Huiwen Zhang, Xing Ji, Jun Ye, Lianshu Han, Xingming Jin, Yongnian Shen, Fei Li, Bing Xiao, Lili Liang…

    Citation: BMC Medical Genomics 2018 11:49

    Content type: Research article

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  33. Genetic variations in apolipoprotein E (APOE) and proximal genes (PVRL2, TOMM40, and APOC1) are associated with cognitive function and dementia, particularly Alzheimer’s disease. Epigenetic mechanisms such as DNA...

    Authors: Jiaxuan Liu, Wei Zhao, Erin B. Ware, Stephen T. Turner, Thomas H. Mosley and Jennifer A. Smith

    Citation: BMC Medical Genomics 2018 11:43

    Content type: Research article

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  34. Parkinson’s disease (PD) is a long-term degenerative disease that is caused by environmental and genetic factors. The networks of genes and their regulators that control the progression and development of PD r...

    Authors: Lining Su, Chunjie Wang, Chenqing Zheng, Huiping Wei and Xiaoqing Song

    Citation: BMC Medical Genomics 2018 11:40

    Content type: Research article

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  35. Electrocardiographic measures of left ventricular hypertrophy (LVH) are used as predictors of cardiovascular risk. We combined linkage and association analyses to discover novel rare genetic variants involved ...

    Authors: Claudia Tamar Silva, Irina V. Zorkoltseva, Maartje N. Niemeijer, Marten E. van den Berg, Najaf Amin, Ayşe Demirkan, Elisa van Leeuwen, Adriana I. Iglesias, Laura B. Piñeros-Hernández, Carlos M. Restrepo, Jan A. Kors, Anatoly V. Kirichenko, Rob Willemsen, Ben A. Oostra, Bruno H. Stricker, André G. Uitterlinden…

    Citation: BMC Medical Genomics 2018 11:22

    Content type: Research article

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  36. This article investigates the genomic knowledge of oncology care physicians in the adoption of clinical genomics. We apply Rogers’ knowledge framework from his diffusion of innovation theory to identify three ...

    Authors: Vu T. Dung Ha, Julie Frizzo-Barker and Peter Chow-White

    Citation: BMC Medical Genomics 2018 11:18

    Content type: Research article

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  37. To address the need for more effective genomics training, beginning in 2012 the Icahn School of Medicine at Mount Sinai has offered a unique laboratory-style graduate genomics course, “Practical Analysis of Yo...

    Authors: Michael D. Linderman, Saskia C. Sanderson, Ali Bashir, George A. Diaz, Andrew Kasarskis, Randi Zinberg, Milind Mahajan, Sabrina A. Suckiel, Micol Zweig and Eric E. Schadt

    Citation: BMC Medical Genomics 2018 11:5

    Content type: Research article

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  38. Cardiovascular diseases (CVDs) are the leading cause of non-communicable disease deaths globally, with hypertension being a major risk factor contributing to CVDs. Blood pressure is a heritable trait, with rel...

    Authors: Liesl M. Hendry, Venesa Sahibdeen, Ananyo Choudhury, Shane A. Norris, Michèle Ramsay and Zané Lombard

    Citation: BMC Medical Genomics 2018 11:2

    Content type: Research article

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  39. Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS...

    Authors: Shanshan Xu, Yanjie Fan, Yu Sun, Lili Wang, Xuefan Gu and Yongguo Yu

    Citation: BMC Medical Genomics 2017 10:62

    Content type: Research article

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  40. Cigarette smoking is the leading modifiable risk factor for disease and death worldwide. Previous studies quantifying gene-level expression have documented the effect of smoking on mRNA levels. Using RNA seque...

    Authors: Margaret M. Parker, Robert P. Chase, Andrew Lamb, Alejandro Reyes, Aabida Saferali, Jeong H. Yun, Blanca E. Himes, Edwin K. Silverman, Craig P. Hersh and Peter J. Castaldi

    Citation: BMC Medical Genomics 2017 10:58

    Content type: Research article

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    The Correction to this article has been published in BMC Medical Genomics 2019 12:166

  41. The impacts of direct-to-consumer personal genomic testing (PGT) on health behaviors such as diet and exercise are poorly understood. Our investigation aimed to evaluate diet and exercise changes following PGT...

    Authors: Daiva Elena Nielsen, Deanna Alexis Carere, Catharine Wang, J. Scott Roberts and Robert C. Green

    Citation: BMC Medical Genomics 2017 10:24

    Content type: Research article

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  42. Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians. To our knowledge, no genetic st...

    Authors: John K. L. Wong, Desmond Campbell, Ngoc Diem Ngo, Fanny Yeung, Guo Cheng, Clara S. M. Tang, Patrick H. Y. Chung, Ngoc Son Tran, Man-ting So, Stacey S. Cherny, Pak C. Sham, Paul K. Tam and Maria-Mercè Garcia-Barcelo

    Citation: BMC Medical Genomics 2016 9:75

    Content type: Research article

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  43. Oxidative stress has been related to type 2 diabetes (T2D) and cardiovascular disease (CVD), the leading global cause of death. Contributions of environmental factors such as oxidative stress on complex traits...

    Authors: Åsa K. Hedman, Mihkel Zilmer, Johan Sundström, Lars Lind and Erik Ingelsson

    Citation: BMC Medical Genomics 2016 9:72

    Content type: Research article

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