Skip to main content

Genetic epidemiology and genetic associations

This section considers studies of the statistical associations between genetic factors and disease states in families and populations, and the contribution of genetic factors to disease risk.

Page 10 of 12

  1. Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are myeloproliferative neoplasms (MPNs) characterized in most cases by a unique somatic mutation, JAK2 V617F. Recent studies...

    Authors: Junko H Ohyashiki, Masayuki Yoneta, Hisashi Hisatomi, Tamiko Iwabuchi, Tomohiro Umezu and Kazuma Ohyashiki
    Citation: BMC Medical Genetics 2012 13:6
  2. There is reason to expect strong genetic influences on the risk of developing active pulmonary tuberculosis (TB) among latently infected individuals. Many of the genome wide linkage and association studies (GW...

    Authors: Eileen Png, Bachti Alisjahbana, Edhyana Sahiratmadja, Sangkot Marzuki, Ron Nelwan, Yanina Balabanova, Vladyslav Nikolayevskyy, Francis Drobniewski, Sergey Nejentsev, Iskandar Adnan, Esther van de Vosse, Martin L Hibberd, Reinout van Crevel, Tom HM Ottenhoff and Mark Seielstad
    Citation: BMC Medical Genetics 2012 13:5
  3. Since subepithelial fibrosis and protruded extracellular matrix are among the histological characteristics of polyps, the emilin/multimerin domain-containing protein 2 (EMID2) gene is speculated to be involved in...

    Authors: Charisse Flerida Arnejo Pasaje, Joon Seol Bae, Byung-Lae Park, Hyun Sub Cheong, Jeong-Hyun Kim, An-Soo Jang, Soo-Taek Uh, Choon-Sik Park and Hyoung Doo Shin
    Citation: BMC Medical Genetics 2012 13:2
  4. Spontaneous preterm delivery (PTD) has a multifactorial etiology with evidence of a genetic contribution to its pathogenesis. A number of candidate gene case-control studies have been performed on spontaneous ...

    Authors: Solveig Myking, Ronny Myhre, HÃ¥kon K Gjessing, Nils-Halvdan Morken, Verena Sengpiel, Scott M Williams, Kelli K Ryckman, Per Magnus and Bo Jacobsson
    Citation: BMC Medical Genetics 2011 12:174
  5. We have previously shown evidence that polymorphisms within genes controlling leukotriene B4 (LTB4) production (ALOX5AP and LTA4H) are associated with asthma susceptibility in children. Evidence also suggests a p...

    Authors: Asif S Tulah, Stuart G Parker, Miriam F Moffatt, Andrew J Wardlaw, Martin J Connolly and Ian Sayers
    Citation: BMC Medical Genetics 2011 12:173
  6. Anophthalmia/microphthalmia (A/M) is caused by mutations in several different transcription factors, but mutations in each causative gene are relatively rare, emphasizing the need for a testing approach that s...

    Authors: Nelson Lopez Jimenez, Jason Flannick, Mani Yahyavi, Jiang Li, Tanya Bardakjian, Leath Tonkin, Adele Schneider, Elliott H Sherr and Anne M Slavotinek
    Citation: BMC Medical Genetics 2011 12:172
  7. Primary hyperparathyroidism (PHPT) affects mainly cortical bone. It is thought that parathyroid hormone (PTH) indirectly regulates the activity of osteoclasts by means of the osteoprotegerin/ligand of the rece...

    Authors: María Piedra, María T García-Unzueta, Ana Berja, Blanca Paule, Bernardo A Lavín, Carmen Valero, José A Riancho and José A Amado
    Citation: BMC Medical Genetics 2011 12:168
  8. Mutations in the ZNF750 promoter and coding regions have been previously associated with Mendelian forms of psoriasis and psoriasiform dermatitis. ZNF750 encodes a putative zinc finger transcription factor that i...

    Authors: Ramon Y Birnbaum, Genki Hayashi, Idan Cohen, Annie Poon, Haoyan Chen, Ernest T Lam, Pui-Yan Kwok, Ohad S Birk and Wilson Liao
    Citation: BMC Medical Genetics 2011 12:167
  9. Disturbances in leptin and insulin signaling pathways are related to obesity and metabolic syndrome (MS) with increased risk of diabetes and cardiovascular disease. Janus kinase 2 (JAK2) is a tyrosine kinase i...

    Authors: Alberto Penas-Steinhardt, Mariana L Tellechea¹, Leonardo Gomez-Rosso, Fernando Brites, Gustavo D Frechtel and Edgardo Poskus
    Citation: BMC Medical Genetics 2011 12:166
  10. Bone morphogenetic protein 4 gene (BMP4) plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the exi...

    Authors: José Suazo, Julio C Tapia, José Luis Santos, Víctor G Castro, Alicia Colombo and Rafael Blanco
    Citation: BMC Medical Genetics 2011 12:163
  11. IL8RA and IL8RB, encoded by CXCR1 and CXCR2, are receptors for interleukin (IL)-8 and other CXC chemokines involved in chemotaxis and activation of polymorphonuclear neutrophils (PMN). Variants at CXCR1 and CXCR2

    Authors: Sanjana Mehrotra, Michaela Fakiola, Joyce Oommen, Sarra E Jamieson, Anshuman Mishra, Medhavi Sudarshan, Puja Tiwary, Deepa Selvi Rani, Kumarasamy Thangaraj, Madhukar Rai, Shyam Sundar and Jenefer M Blackwell
    Citation: BMC Medical Genetics 2011 12:162
  12. The insertion/deletion (I/D) polymorphism in the Angiotensin-converting enzyme (ACE) gene has been implicated in susceptibility to cancer, but a large number of studies have reported inconclusive results. The aim...

    Authors: Yonggang Zhang, Jie He, Yao Deng, Jie Zhang, Xiaobo Li, Zhangpeng Xiang, Honglang Huang, Can Tian, Jin Huang and Hong Fan
    Citation: BMC Medical Genetics 2011 12:159
  13. Polymorphisms in the endotoxin-mediated TLR4 pathway genes have been associated with asthma and atopy. We aimed to examine how genetic polymorphisms in innate immunity pathways interact with endotoxin to influ...

    Authors: Joanne E Sordillo, Sunita Sharma, Audrey Poon, Jessica Lasky-Su, Kathleen Belanger, Donald K Milton, Michael B Bracken, Elizabeth W Triche, Brian P Leaderer, Diane R Gold and Augusto A Litonjua
    Citation: BMC Medical Genetics 2011 12:158
  14. SERPINE2 (serpin peptidase inhibitor, clade E, member 2) has previously been identified as a positional candidate gene for chronic obstructive pulmonary disease (COPD) and has subsequently been associated to COP...

    Authors: Mari K Kukkonen, Emmi Tiili, Satu Hämäläinen, Tapio Vehmas, Panu Oksa, Päivi Piirilä and Ari Hirvonen
    Citation: BMC Medical Genetics 2011 12:157
  15. Human chromosomal region 8q24 contains several genes which could be functionally related to cancer, including the proto-oncogene c-MYC. However, the abundance of associations around 128 Mb on chromosome 8 coul...

    Authors: Abra G Brisbin, Yan W Asmann, Honglin Song, Ya-Yu Tsai, Jeremiah A Aakre, Ping Yang, Robert B Jenkins, Paul Pharoah, Fredrick Schumacher, David V Conti, David J Duggan, Mark Jenkins, John Hopper, Steven Gallinger, Polly Newcomb, Graham Casey…
    Citation: BMC Medical Genetics 2011 12:156
  16. Many copy number variants (CNVs) are documented to be associated with neuropsychiatric disorders, including intellectual disability, autism, epilepsy, schizophrenia, and bipolar disorder. Chromosomal deletions...

    Authors: Larissa R Stewart, April L Hall, Sung-Hae L Kang, Chad A Shaw and Arthur L Beaudet
    Citation: BMC Medical Genetics 2011 12:154
  17. Disc degeneration (DD) is a common condition that progresses with aging. Although the events leading to DD are not well understood, a significant genetic influence has been found. This study was undertaken to ...

    Authors: Anthi Kelempisioti, Pasi J Eskola, Annaleena Okuloff, Ulla Karjalainen, Jani Takatalo, Iita Daavittila, Jaakko Niinimäki, Roberto B Sequeiros, Osmo Tervonen, Svetlana Solovieva, Patrick YP Kao, You-Qiang Song, Kenneth MC Cheung, Danny Chan, Leena Ala-Kokko, Marjo-Riitta Järvelin…
    Citation: BMC Medical Genetics 2011 12:153
  18. Insulin-degrading enzyme (IDE) is the ubiquitously expressed enzyme responsible for insulin and amyloid beta (Aβ) degradation. IDE gene is located on chromosome region 10q23-q25 and exhibits a well-replicated pea...

    Authors: Jasmin Bartl, Claus-Jürgen Scholz, Margareta Hinterberger, Susanne Jungwirth, Ildiko Wichart, Michael K Rainer, Susanne Kneitz, Walter Danielczyk, Karl H Tragl, Peter Fischer, Peter Riederer and Edna Grünblatt
    Citation: BMC Medical Genetics 2011 12:151
  19. Sequence variants in genes functioning in folate-mediated one-carbon metabolism are hypothesized to lead to changes in levels of homocysteine and DNA methylation, which, in turn, are associated with risk of ca...

    Authors: Susan M Wernimont, Andrew G Clark, Patrick J Stover, Martin T Wells, Augusto A Litonjua, Scott T Weiss, J Michael Gaziano, Katherine L Tucker, Andrea Baccarelli, Joel Schwartz, Valentina Bollati and Patricia A Cassano
    Citation: BMC Medical Genetics 2011 12:150
  20. Recently, a single nucleotide polymorphism (SNP) rs9514089 in SLC10A2 (apical sodium-dependent bile acid transporter gene) has been identified as a susceptibility variant for cholelithiasis in humans.

    Authors: Anke Tönjes, Henning Wittenburg, Jan Halbritter, Olga Renner, Simone Harsch, Eduard F Stange, Frank Lammert, Michael Stumvoll and Peter Kovacs
    Citation: BMC Medical Genetics 2011 12:149
  21. Ectopic fat accumulation in the renal sinus is associated with chronic kidney disease and hypertension. The genetic contributions to renal sinus fat accumulation in humans have not been well characterized.

    Authors: Meredith C Foster, Qiong Yang, Shih-Jen Hwang, Udo Hoffmann and Caroline S Fox
    Citation: BMC Medical Genetics 2011 12:148
  22. Mutations in the high penetrance breast and ovarian cancer susceptibility gene BRCA1 account for a significant percentage of hereditary breast and ovarian cancer cases. Genotype-phenotype correlations of BRCA1 mu...

    Authors: Grigorijs Plakhins, Arvids Irmejs, Andris Gardovskis, Signe Subatniece, Santa Rozite, Marianna Bitina, Guntars Keire, Gunta Purkalne, Uldis Teibe, Genadijs Trofimovics, Edvins Miklasevics and Janis Gardovskis
    Citation: BMC Medical Genetics 2011 12:147
  23. Traditional genome-wide association studies are generally limited in their ability explain a large portion of genetic risk for most common diseases. We sought to use both traditional GWAS methods, as well as m...

    Authors: Matthew A Simonson, Amanda G Wills, Matthew C Keller and Matthew B McQueen
    Citation: BMC Medical Genetics 2011 12:146
  24. Preeclampsia is a frequent complication of pregnancy and a leading cause of perinatal mortality. Both genetic and environmental risk factors have been identified. Lipid metabolism, particularly cholesterol met...

    Authors: Kevin Mouzat, Eric Mercier, Anne Polge, Alexandre Evrard, Silvère Baron, Jean-Pierre Balducchi, Jean-Paul Brouillet, Serge Lumbroso and Jean-Christophe Gris
    Citation: BMC Medical Genetics 2011 12:145
  25. The epidermal growth factor receptor (EGFR), a member of the ErbB family of receptors, is a transmembrane tyrosine kinase (TK) activated by the binding of extracellular ligands of the EGF-family and involved i...

    Authors: Brigitte Metzger, Laetitia Chambeau, Dominique Y Begon, Carlo Faber, Jacques Kayser, Guy Berchem, Marc Pauly, Jacques Boniver, Philippe Delvenne, Mario Dicato and Thomas Wenner
    Citation: BMC Medical Genetics 2011 12:144
  26. Six previous studies have examined the relationships between single nucleotide polymorphisms (SNPs) in the IL13 gene and allergic rhinitis, but the results have been inconsistent. However, a recent meta-analysis ...

    Authors: Yoshihiro Miyake, Keiko Tanaka and Masashi Arakawa
    Citation: BMC Medical Genetics 2011 12:143
  27. The association between anxiety and depression related traits and dyspepsia may reflect a common genetic predisposition. Furthermore, genetic factors may contribute to the risk of having increased visceral sen...

    Authors: Suhreta Mujakovic, José JM ter Linde, Niek J de Wit, Corine J van Marrewijk, Gerdine AJ Fransen, N Charlotte Onland-Moret, Robert JF Laheij, Jean WM Muris, Diederick E Grobbee, Melvin Samsom, Jan BMJ Jansen, André Knottnerus and Mattijs E Numans
    Citation: BMC Medical Genetics 2011 12:140
  28. Differences in the genetic architecture of inflammatory bowel disease between different European countries and ethnicities have previously been reported. In the present study, we wanted to assess the role of 1...

    Authors: Vibeke Andersen, Anja Ernst, Jurgita Sventoraityte, Limas Kupcinskas, Bent A Jacobsen, Henrik B Krarup, Ulla Vogel, Laimas Jonaitis, Goda Denapiene, Gediminas Kiudelis, Tobias Balschun and Andre Franke
    Citation: BMC Medical Genetics 2011 12:139
  29. RET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology. In the prese...

    Authors: Rocio Núñez-Torres, Raquel M Fernández, Manuel Jesus Acosta, Maria del Valle Enguix-Riego, Martina Marbá, Juan Carlos de Agustín, Luis Castaño, Guillermo Antiñolo and Salud Borrego
    Citation: BMC Medical Genetics 2011 12:138
  30. To examine the effect of genetic variation in APOE, IDE and IL1B on the response to induced ketosis in the Alzheimer's Disease Assessment Scale-Cognitive subscale (ADAS-Cog) in subjects with mild to moderate Alzh...

    Authors: Samuel T Henderson and Judes Poirier
    Citation: BMC Medical Genetics 2011 12:137
  31. Recent studies reported the association between SLCO1B1 polymorphisms and the development of statin-induced myopathy. In the scenario of the Brazilian population, being one of the most heterogeneous in the world,...

    Authors: Paulo CJL Santos, Renata AG Soares, Raimundo M Nascimento, George LL Machado-Coelho, José G Mill, José E Krieger and Alexandre C Pereira
    Citation: BMC Medical Genetics 2011 12:136
  32. Variants of mitochondrial DNA (mtDNA) have been evaluated for their association with hearing loss. Although ethnic background affects the spectrum of mtDNA variants, systematic mutational analysis of mtDNA in ...

    Authors: Hideki Mutai, Hiroko Kouike, Eiko Teruya, Ikuko Takahashi-Kodomari, Hiroki Kakishima, Hidenobu Taiji, Shin-ichi Usami, Torayuki Okuyama and Tatsuo Matsunaga
    Citation: BMC Medical Genetics 2011 12:135
  33. Genome-wide association studies of asthma have identified a novel region containing ORMDL3 at chromosome 17q21 that is strongly associated with childhood-onset asthma and significantly linked to ORMDL3 transcript...

    Authors: Rongfang Qiu, Hailing Zhao, Aihua Wang, Yaoqin Gong and Qiji Liu
    Citation: BMC Medical Genetics 2011 12:133
  34. TNF-α mediated inflammation is thought to play a key role in the respiratory and systemic features of Chronic Obstructive Pulmonary Disease. The aim of the present study was to replicate and extend recent find...

    Authors: Elizabeth Córdoba-Lanús, Rebeca Baz-Dávila, Juan P de-Torres, María C Rodríguez-Pérez, Nicole Maca-Meyer, Nerea Varo, Chaxiraxi Medina-Coello, Armando Aguirre-Jaime and Ciro Casanova
    Citation: BMC Medical Genetics 2011 12:132
  35. Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder, characterized by recurrent epistaxis, mucocutaneous telangiectases, and arteriovenous malformations (AVMs) in various vis...

    Authors: Mi-Jung Kim, Seon-Tae Kim, Hyoung-Doo Lee, Kyu-Yong Lee, Jiyoung Seo, Jae-Bom Lee, Young-Jae Lee and Suk P Oh
    Citation: BMC Medical Genetics 2011 12:130
  36. Oxidative stress is recognized as a major pathogenic factor of cellular damage caused by hyperglycemia. NOX/NADPH oxidases generate reactive oxygen species and NOX1, NOX2 and NOX4 isoforms are expressed in kid...

    Authors: Suzana M Vieira, Maria B Monteiro, Tatiana Marques, Ana M Luna, Maria A Fortes, Márcia Nery, Márcia Queiroz, Sérgio A Dib, Márcio F Vendramini, Mirela J Azevedo, Luis H Canani, Maria C Parisi, Elizabeth J Pavin, Daniel Giannella-Neto and Maria L Corrêa-Giannella
    Citation: BMC Medical Genetics 2011 12:129
  37. Genome-wide association studies (GWAS) have identified new candidate genes for the occurrence of acute coronary syndrome (ACS), but possible effects of such genes on survival following ACS have yet to be inves...

    Authors: Thomas M Morgan, John A House, Sharon Cresci, Philip Jones, Hooman Allayee, Stanley L Hazen, Yesha Patel, Riyaz S Patel, Danny J Eapen, Salina P Waddy, Arshed A Quyyumi, Marcus E Kleber, Winfried März, Bernhard R Winkelmann, Bernhard O Boehm, Harlan M Krumholz…
    Citation: BMC Medical Genetics 2011 12:127
  38. In previous analyses, we identified a region of chromosome 19 as harboring a susceptibility locus for chronic otitis media with effusion and/or recurrent otitis media (COME/ROM). Our aim was to further localiz...

    Authors: Wei-Min Chen, E Kaitlynn Allen, Josyf C Mychaleckyj, Fang Chen, Xuanlin Hou, Stephen S Rich, Kathleen A Daly and Michèle M Sale
    Citation: BMC Medical Genetics 2011 12:124
  39. Genome-wide association studies (GWAS) have become a major strategy for genetic dissection of human complex diseases. Analysing multiple phenotypes jointly may improve both our ability to detect genetic varian...

    Authors: Rita PS Middelberg, Manuel AR Ferreira, Anjali K Henders, Andrew C Heath, Pamela AF Madden, Grant W Montgomery, Nicholas G Martin and John B Whitfield
    Citation: BMC Medical Genetics 2011 12:123
  40. The recently observed association between the APOC3-related rs10892151 polymorphism and serum triglyceride levels has prompted us the possibility to explore whether this genetic variant may play a major role i...

    Authors: Gerard Aragonès, Carlos Alonso-Villaverde, Pedro Pardo-Reche, Anna Rull, Raúl Beltrán-Debón, Esther Rodríguez-Gallego, Laura Fernández-Sender, Jordi Camps and Jorge Joven
    Citation: BMC Medical Genetics 2011 12:120
  41. Despite some studies suggesting a possible association between human leukocyte antigen, HLA-B*5801 and allopurinol induced Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN), the evidence of asso...

    Authors: Ratchadaporn Somkrua, Elizabeth E Eickman, Surasak Saokaew, Manupat Lohitnavy and Nathorn Chaiyakunapruk
    Citation: BMC Medical Genetics 2011 12:118
  42. Genetic Hypophosphatemic Rickets (HR) is a group of diseases characterized by renal phosphate wasting with inappropriately low or normal 1,25-dihydroxyvitamin D3 (1,25(OH)2D) serum levels. The most common form of...

    Authors: Marcos Morey, Lidia Castro-Feijóo, Jesús Barreiro, Paloma Cabanas, Manuel Pombo, Marta Gil, Ignacio Bernabeu, José M Díaz-Grande, Lourdes Rey-Cordo, Gema Ariceta, Itxaso Rica, José Nieto, Ramón Vilalta, Loreto Martorell, Jaime Vila-Cots, Fernando Aleixandre…
    Citation: BMC Medical Genetics 2011 12:116
  43. Reactive oxygen species have been implicated in the physiopathogenesis of hypertensive end-organ damage. This study investigated the impact of the C242T polymorphism of the p22-phox gene (CYBA) on left ventric...

    Authors: Roberto Schreiber, Maria C Ferreira-Sae, Juliana A Ronchi, José A Pio-Magalhães, José A Cipolli, José R Matos-Souza, José G Mill, Aníbal E Vercesi, José E Krieger, Kleber G Franchini, Alexandre C Pereira and Wilson Nadruz Junior
    Citation: BMC Medical Genetics 2011 12:114
  44. Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder predominantly observed in females that leads to intellectual disability. Mutations and gross rearrangements in MECP2 account for a large p...

    Authors: Kirti Mittal, Madhulika Kabra, Ramesh Juyal and Thelma BK
    Citation: BMC Medical Genetics 2011 12:113
  45. Several polymorphisms of genes involved in the immunological recognition of Helicobacter pylori and regulating apoptosis and proliferation have been linked to gastric carcinogenesis, however reported data are par...

    Authors: Juozas Kupcinskas, Thomas Wex, Jan Bornschein, Michael Selgrad, Marcis Leja, Elona Juozaityte, Gediminas Kiudelis, Laimas Jonaitis and Peter Malfertheiner
    Citation: BMC Medical Genetics 2011 12:112
  46. Addison's disease (AD) is caused by an autoimmune destruction of the adrenal cortex. The pathogenesis is multi-factorial, involving genetic components and hitherto unknown environmental factors. The aim of the...

    Authors: Ingeborg Brønstad, Anette SB Wolff, Kristian Løvås, Per M Knappskog and Eystein S Husebye
    Citation: BMC Medical Genetics 2011 12:111
  47. There has been no systematic evaluation of the association between genetic variants of type 2 receptor for TNFα (TNFR2) and type 2 diabetes, despite strong biological evidence for the role of this receptor in ...

    Authors: Rubina Tabassum, Anubha Mahajan, Ganesh Chauhan, Om Prakash Dwivedi, Himanshu Dubey, Vasudha Sharma, Bratashree Kundu, Saurabh Ghosh, Nikhil Tandon and Dwaipayan Bharadwaj
    Citation: BMC Medical Genetics 2011 12:110
  48. Although polymorphisms of PRNP, the gene encoding prion protein, are known as a determinant affecting prion disease susceptibility, other genes also influence prion incubation time. This finding offers the opport...

    Authors: Jisuk Yun, Hyoung-Tae Jin, Yun-Jung Lee, Eun-Kyoung Choi, Richard I Carp, Byung-Hoon Jeong and Yong-Sun Kim
    Citation: BMC Medical Genetics 2011 12:108
  49. Previous studies have examined the association between polymorphisms in the coagulation factor VII gene and the risk of coronary heart disease (CHD), but those studies have been inconclusive. This study was co...

    Authors: Xingbo Mo, Yongchen Hao, Xueli Yang, Shufeng Chen, Xiangfeng Lu and Dongfeng Gu
    Citation: BMC Medical Genetics 2011 12:107