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Genetic epidemiology and genetic associations

Section edited by Dan Rujescu and Danish Saleheen

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.

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  1. 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

    Content type: Research article

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  2. 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

    Content type: Research article

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  3. 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

    Content type: Research article

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  4. 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

    Content type: Research article

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  5. 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

    Content type: Research article

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  6. 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

    Content type: Research article

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  7. 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

    Content type: Research article

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  8. 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

    Content type: Research article

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  9. 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

    Content type: Research article

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  10. 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

    Content type: Case report

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  11. 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

    Content type: Research article

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  12. 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

    Content type: Research article

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  13. 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

    Content type: Research article

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  14. 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

    Content type: Research article

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  15. 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

    Content type: Research article

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  16. Heterozygous copy-number and missense variants in CNTNAP2 and NRXN1 have repeatedly been associated with a wide spectrum of neuropsychiatric disorders such as developmental language and autism spectrum disorders,...

    Authors: Anne Gregor, Beate Albrecht, Ingrid Bader, Emilia K Bijlsma, Arif B Ekici, Hartmut Engels, Karl Hackmann, Denise Horn, Juliane Hoyer, Jakub Klapecki, Jürgen Kohlhase, Isabelle Maystadt, Sandra Nagl, Eva Prott, Sigrid Tinschert, Reinhard Ullmann…

    Citation: BMC Medical Genetics 2011 12:106

    Content type: Research article

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  17. To date, nine Parkinson disease (PD) genome-wide association studies in North American, European and Asian populations have been published. The majority of studies have confirmed the association of the previou...

    Authors: Xinmin Liu, Rong Cheng, Miguel Verbitsky, Sergey Kisselev, Andrew Browne, Helen Mejia-Sanatana, Elan D Louis, Lucien J Cote, Howard Andrews, Cheryl Waters, Blair Ford, Steven Frucht, Stanley Fahn, Karen Marder, Lorraine N Clark and Joseph H Lee

    Citation: BMC Medical Genetics 2011 12:104

    Content type: Research article

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  18. Asthma is a genetically heterogeneous disease. Polymorphisms of genes encoding components of the vitamin D pathway have been reported to associate with the risk of asthma. We have previously demonstrated that ...

    Authors: Fei Li, Lei Jiang, Saffron A Willis-Owen, Youming Zhang and Jinming Gao

    Citation: BMC Medical Genetics 2011 12:103

    Content type: Research article

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  19. Bardet-Biedl syndrome (BBS) is a heterogeneous human disorder inherited in an autosomal recessive pattern, and characterized by the primary findings of obesity, polydactyly, hypogonadism, and learning and beha...

    Authors: Kim M Keppler-Noreuil, Catherine Blumhorst, Julie C Sapp, Danielle Brinckman, Jennifer Johnston, Peggy C Nopoulos and Leslie G Biesecker

    Citation: BMC Medical Genetics 2011 12:101

    Content type: Research article

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  20. Left ventricular mass (LVM) is an important risk factor for cardiovascular disease. Previously we found evidence for linkage to chromosome 12p11 in Dominican families, with a significant increase in a subset o...

    Authors: David Della-Morte, Ashley Beecham, Tatjana Rundek, Liyong Wang, Mark S McClendon, Susan Slifer, Susan H Blanton, Marco R Di Tullio and Ralph L Sacco

    Citation: BMC Medical Genetics 2011 12:100

    Content type: Research article

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  21. Single nucleotide polymorphisms (SNPs) within the gene encoding Hexokinase 1 (HK1) are associated with changes in glycated haemoglobin (HbA1c) levels. Our aim was to investigate the effect of HK1 rs7072268 on mea...

    Authors: Anette P Gjesing, Aneta A Nielsen, Ivan Brandslund, Cramer Christensen, Anneli Sandbæk, Torben Jørgensen, Daniel Witte, Amélie Bonnefond, Phillippe Froguel, Torben Hansen and Oluf Pedersen

    Citation: BMC Medical Genetics 2011 12:99

    Content type: Research article

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  22. An Nrf2-dependent response is a central protective mechanism against oxidative stress. We propose that particular genetic variants of the Nrf2 gene may be associated with a rapid forced expiratory volume in one s...

    Authors: Hironori Masuko, Tohru Sakamoto, Yoshiko Kaneko, Hiroaki Iijima, Takashi Naito, Emiko Noguchi, Tomomitsu Hirota, Mayumi Tamari and Nobuyuki Hizawa

    Citation: BMC Medical Genetics 2011 12:97

    Content type: Research article

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  23. Type 2 diabetes mellitus (T2DM) has been linked to a state of pre-clinical chronic inflammation resulting from abnormalities in the innate immune pathway. Serum levels of pro-inflammatory cytokines and acute-p...

    Authors: Paul Arora, Bibiana Garcia-Bailo, Zari Dastani, Darren Brenner, Andre Villegas, Suneil Malik, Timothy D Spector, Brent Richards, Ahmed El-Sohemy, Mohamed Karmali and Alaa Badawi

    Citation: BMC Medical Genetics 2011 12:95

    Content type: Research article

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  24. Decreased expression of adiponectin (ADIPOQ) is associated with an increased risk for developing colorectal cancer (CRC) in humans. This study was designed to determine whether polymorphisms present in the ADIPOQ

    Authors: Bangshun He, Yuqin Pan, Ying Zhang, Qian Bao, Liping Chen, Zhenlin Nie, Ling Gu, Yeqiong Xu and Shukui Wang

    Citation: BMC Medical Genetics 2011 12:94

    Content type: Research article

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  25. Although adolescent idiopathic scoliosis affects approximately 3% of adolescents, the genetic contributions have proven difficult to identify. Work in model organisms, including zebrafish, chickens, and mice, ...

    Authors: Tracy L McGregor, Christina A Gurnett, Matthew B Dobbs, Carol A Wise, Jose A Morcuende, Thomas M Morgan, Ramkumar Menon and Louis J Muglia

    Citation: BMC Medical Genetics 2011 12:92

    Content type: Research article

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  26. Personalized health-care promises tailored health-care solutions to individual patients based on their genetic background and/or environmental exposure history. To date, disease prediction has been based on a ...

    Authors: Mousheng Xu, Kelan G Tantisira, Ann Wu, Augusto A Litonjua, Jen-hwa Chu, Blanca E Himes, Amy Damask and Scott T Weiss

    Citation: BMC Medical Genetics 2011 12:90

    Content type: Research article

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  27. Elevated triglyceride levels are a risk factor for cardiovascular disease. Angiopoietin-like protein 4 (Angptl4) is a metabolic factor that raises plasma triglyceride levels by inhibiting lipoprotein lipase (L...

    Authors: Melissa C Smart-Halajko, Alyson Kelley-Hedgepeth, Maria Claudia Montefusco, Jackie A Cooper, Alan Kopin, Jeanne M McCaffery, Ashok Balasubramanyam, Henry J Pownall, David M Nathan, Inga Peter, Philippa J Talmud and Gordon S Huggins

    Citation: BMC Medical Genetics 2011 12:89

    Content type: Research article

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  28. Although familial clustering of functional dyspepsia (FD) has been reported, the role of genetics in the susceptibility to FD is still not well understood. In the present study, the association between seroton...

    Authors: Fumihiko Toyoshima, Tadayuki Oshima, Shigemi Nakajima, Jun Sakurai, Junji Tanaka, Toshihiko Tomita, Kazutoshi Hori, Takayuki Matsumoto and Hiroto Miwa

    Citation: BMC Medical Genetics 2011 12:88

    Content type: Research article

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  29. Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.

    Authors: Steven E Boyden, Anna R Duncan, Elicia A Estrella, Hart GW Lidov, Lane J Mahoney, Jonathan S Katz, Louis M Kunkel and Peter B Kang

    Citation: BMC Medical Genetics 2011 12:87

    Content type: Research article

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  30. Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK...

    Authors: Esther Sarasola, Jose A Rodríguez, Elisa Garrote, Javier Arístegui and Maria J García-Barcina

    Citation: BMC Medical Genetics 2011 12:86

    Content type: Case report

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  31. Two SNPs in melatonin receptor 1B gene, rs10830963 and rs1387153 showed significant associations with fasting plasma glucose levels and the risk of Type 2 Diabetes Mellitus (T2DM) in previous studies. Since T2DM ...

    Authors: Jason Y Kim, Hyun Sub Cheong, Byung-Lae Park, Sei Hyun Baik, Sunmin Park, Si Won Lee, Min-Hyoung Kim, Jin Hoon Chung, June Seek Choi, Moon-Young Kim, Jae-Hyug Yang, Dong-Hee Cho, Hyoung Doo Shin and Sung-Hoon Kim

    Citation: BMC Medical Genetics 2011 12:82

    Content type: Research article

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  32. Three IL-10 gene promoter single nucleotide polymorphisms -1082G > A, -819C > T and -592C > A and the haplotypes they define in Caucasians, GCC, ACC, ATA, associated with different IL-10 production rates, have be...

    Authors: Berta Almoguera, Rosa Riveiro-Alvarez, Jorge Lopez-Castroman, Pedro Dorado, Rosario Lopez-Rodriguez, Pablo Fernandez-Navarro, Enrique Baca-García, Jose Fernandez-Piqueras, Rafael Dal-Ré, Francisco Abad-Santos, Adrián LLerena and Carmen Ayuso

    Citation: BMC Medical Genetics 2011 12:81

    Content type: Research article

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  33. CYP2C9 and VKORC1 are two major genetic factors associated with inter-individual variability in warfarin dose. Additionally, genes in the warfarin metabolism pathway have also been associated with dose variance....

    Authors: Ivet M Suriapranata, Wen Ye Tjong, Tingliang Wang, Andi Utama, Sunu B Raharjo, Yoga Yuniadi and Susan SW Tai

    Citation: BMC Medical Genetics 2011 12:80

    Content type: Research article

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  34. Peroxiredoxin 6 (PRDX6) is involved in redox regulation of the cell and is thought to be protective against oxidant injury. Little is known about genetic variation within the PRDX6 gene and its association with a...

    Authors: Melanie Rushefski, Richard Aplenc, Nuala Meyer, Mingyao Li, Rui Feng, Paul N Lanken, Robert Gallop, Scarlett Bellamy, A Russell Localio, Sheldon I Feinstein, Aron B Fisher, Steven M Albelda and Jason D Christie

    Citation: BMC Medical Genetics 2011 12:77

    Content type: Research article

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  35. Retinoblastoma is caused by compound heterozygosity or homozygosity of retinoblastoma gene (RB1) mutations. In germline retinoblastoma, mutations in the RB1 gene predispose individuals to increased cancer risks d...

    Authors: Chia-Cheng Hung, Shin-Yu Lin, Chien-Nan Lee, Chih-Ping Chen, Shuan-Pei Lin, Mei-Chyn Chao, Shyh-Shin Chiou and Yi-Ning Su

    Citation: BMC Medical Genetics 2011 12:76

    Content type: Research article

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  36. The MAOA uVNTR polymorphism has been documented to affect the MAOA gene at the transcriptional level and is associated with aggressive impulsive behaviors, depression associated with suicide (depressed suicide...

    Authors: For-Wey Lung, Dong-Sheng Tzeng, Mei-Feng Huang and Ming-Been Lee

    Citation: BMC Medical Genetics 2011 12:74

    Content type: Research article

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  37. Creutzfeldt-Jakob disease (CJD) is a rare transmissible neurodegenerative disorder. An important determinant for CJD risk and phenotype is the M129V polymorphism of the human prion protein gene (PRNP), but there ...

    Authors: Pascual Sanchez-Juan, Matthew T Bishop, Esther A Croes, Richard SG Knight, Robert G Will, Cornelia M van Duijn and Jean C Manson

    Citation: BMC Medical Genetics 2011 12:73

    Content type: Research article

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  38. SLC11A1 has pleiotropic effects on macrophage function and remains a strong candidate for infectious disease susceptibility. 5' and/or 3' polymorphisms have been associated with tuberculosis, leprosy, and viscer...

    Authors: Sanjana Mehrotra, Joyce Oommen, Anshuman Mishra, Medhavi Sudharshan, Puja Tiwary, Sarra E Jamieson, Michaela Fakiola, Deepa Selvi Rani, Kumarasamy Thangaraj, Madhukar Rai, Shyam Sundar and Jenefer M Blackwell

    Citation: BMC Medical Genetics 2011 12:71

    Content type: Research article

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  39. Peroxisome proliferator-activated receptor-γ co-activator (PGC)-1α is a transcriptional co-activator of antioxidant genes and a master regulator of mitochondrial biogenesis. Parkinson's disease (PD) is associa...

    Authors: Joanne Clark, Sonika Reddy, Kangni Zheng, Rebecca A Betensky and David K Simon

    Citation: BMC Medical Genetics 2011 12:69

    Content type: Research article

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  40. Several studies have shown that variants in the glucokinase regulatory protein gene (GCKR) were associated with type 2 diabetes and dyslipidemia. The purpose of this study was to examine whether tag single nucleo...

    Authors: Yan Ling, Xiaomu Li, Qian Gu, Hongyan Chen, Daru Lu and Xin Gao

    Citation: BMC Medical Genetics 2011 12:66

    Content type: Research article

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  41. CRP gene polymorphisms are associated with serum C-reactive protein concentrations and may play a role in chronic kidney disease (CKD) progression. We recently reported an association between the gene variant rs...

    Authors: Adriana M Hung, T Alp Ikizler, Marie R Griffin, Kimberly Glenn, Robert A Greevy, Carlos G Grijalva, Edward D Siew and Dana C Crawford

    Citation: BMC Medical Genetics 2011 12:65

    Content type: Research article

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  42. Preeclampsia affects 3-8% of pregnancies and is a major cause of maternal and perinatal morbidity and mortality worldwide. This complex disorder is characterized by alterations in the immune and vascular syste...

    Authors: Lori D Hill, DaShaunda D Hilliard, Timothy P York, Sindhu Srinivas, Juan P Kusanovic, Ricardo Gomez, Michal A Elovitz, Roberto Romero and Jerome F Strauss III

    Citation: BMC Medical Genetics 2011 12:64

    Content type: Research article

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  43. Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility va...

    Authors: Inga Peter, Adele A Mitchell, Laurie Ozelius, Monica Erazo, Jianzhong Hu, Dana Doheny, Maria T Abreu, Daniel H Present, Thomas Ullman, Keith Benkov, Burton I Korelitz, Lloyd Mayer and Robert J Desnick

    Citation: BMC Medical Genetics 2011 12:63

    Content type: Research article

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  44. F508del-CFTR, the most frequent disease-causing mutation among Caucasian cystic fibrosis (CF) patients, has been characterised as a mutant defective in protein folding, processing and trafficking. We have inve...

    Authors: Frauke Stanke, Silke Hedtfeld, Tim Becker and Burkhard Tümmler

    Citation: BMC Medical Genetics 2011 12:62

    Content type: Research article

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  45. Linkage and congenic strain analyses using the nonobese diabetic (NOD) mouse as a model for human type 1 autoimmune diabetes (T1D) have identified several NOD mouse Idd (insulin dependent diabetes) loci, includin...

    Authors: Jennie HM Yang, Kate Downes, Joanna MM Howson, Sarah Nutland, Helen E Stevens, Neil M Walker and John A Todd

    Citation: BMC Medical Genetics 2011 12:59

    Content type: Research article

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  46. Age-related macular degeneration (AMD) is a common disease of the elderly that leads to loss of the central visual field due to atrophic or neovascular events. Evidence from human eyes and animal models sugges...

    Authors: Robert F Mullins, Jessica M Skeie, James C Folk, Frances M Solivan-Timpe, Thomas A Oetting, Jian Huang, Kai Wang, Edwin M Stone and John H Fingert

    Citation: BMC Medical Genetics 2011 12:58

    Content type: Research article

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  47. Intellectual disability (ID) is a serious disorder of the central nervous system with a prevalence of 1-3% in a general population. In the past decades, the research focus has been predominantly on X-linked ID...

    Authors: Muzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, Nadir Ali, Ghazanfar Ali, John B Vincent and Muhammad Ansar

    Citation: BMC Medical Genetics 2011 12:56

    Content type: Research article

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