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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.

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  1. Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA) are caused by SLC26A4 mutations. The Okinawa Islands are the southwestern-most islands of the Japanese archip...

    Authors: Akira Ganaha, Tadashi Kaname, Kumiko Yanagi, Kenji Naritomi, Tetsuya Tono, Shin-ichi Usami and Mikio Suzuki
    Citation: BMC Medical Genetics 2013 14:56
  2. Hormone sensitive lipase (HSL) promoter (LIPE-60 C > G) polymorphism has been found to be involved in hepatic steatosis, obesity, diabetes and dyslipidemia. The precise interactions between these risk factors ...

    Authors: Pi-Jung Hsiao, Zhih-Cherg Chen, Wei-Wen Hung, Yi-Hsin Connie Yang, Mei-Yueh Lee, Jee-Fu Huang and Kung-Kai Kuo
    Citation: BMC Medical Genetics 2013 14:54
  3. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is the most common orofacial birth defect with a wide range prevalence among different populations. Previous association studies with populations fr...

    Authors: Sibele Nascimento de Aquino, Ana Camila Messetti, Elizabete Bagordakis, Hercílio Martelli-Júnior, Mario Sergio Oliveira Swerts, Edgard Graner and Ricardo D Coletta
    Citation: BMC Medical Genetics 2013 14:53
  4. Recently, different genetic variants located within the IL2/IL21 genetic region as well as within both IL2RA and IL2RB loci have been associated to multiple autoimmune disorders. We aimed to investigate for the f...

    Authors: María Carmen Cénit, Ana Márquez, Miguel Cordero-Coma, Alejandro Fonollosa, Alfredo Adán, Agustín Martínez-Berriotxoa, Victor Llorenç, David Díaz Valle, Ricardo Blanco, Joaquín Cañal, Manuel Díaz-Llopis, José Luis García Serrano, Enrique de Ramón, María José del Rio, Marina Begoña Gorroño- Echebarría, José Manuel Martín-Villa…
    Citation: BMC Medical Genetics 2013 14:52
  5. Asthma genetics has been extensively studied and many genes have been associated with the development or severity of this disease. In contrast, the genetic basis of allergic rhinitis (AR) has not been evaluate...

    Authors: Anand Kumar Andiappan, Daniel Nilsson, Christer Halldén, Wang De Yun, Torbjörn Säll, Lars Olaf Cardell and Chew Fook Tim
    Citation: BMC Medical Genetics 2013 14:51
  6. Global developmental delay and mental retardation are associated with X-linked disorders including Hunter syndrome (mucopolysaccharidosis type II) and Fragile X syndrome (FXS). Single nucleotide mutations in t...

    Authors: Lauren S Marshall, Julie Simon, Tim Wood, Mei Peng, Renius Owen, Gary S Feldman and Michael V Zaragoza
    Citation: BMC Medical Genetics 2013 14:49
  7. The two major class A scavenger receptors are scavenger receptor A (SRA), which is constitutively expressed on most macrophage populations, and macrophage receptor with collagenous structure (MARCO), which is ...

    Authors: Dawn ME Bowdish, Kaori Sakamoto, Nathan A Lack, Philip C Hill, Giorgio Sirugo, Melanie J Newport, Siamon Gordon, Adrian VS Hill and Fredrick O Vannberg
    Citation: BMC Medical Genetics 2013 14:47
  8. The associations between the polymorphisms in Cytotoxic T lymphocyte-associated molecule-4 (CTLA-4) gene and Graves’ disease (GD) have been extensively investigated in Chinese population. However, the results wer...

    Authors: Liang Du, Jiqiao Yang, Jichong Huang, Yaxian Ma, Haichuan Wang, Tianyuan Xiong, Zhangpeng Xiang, Yonggang Zhang and Jin Huang
    Citation: BMC Medical Genetics 2013 14:46
  9. Generation Scotland: Scottish Family Health Study (GS:SFHS) is a family-based biobank of 24,000 participants with rich phenotype and DNA available for genetic research. This paper describes the laboratory resu...

    Authors: Shona M Kerr, Archie Campbell, Lee Murphy, Caroline Hayward, Cathy Jackson, Louise V Wain, Martin D Tobin, Anna Dominiczak, Andrew Morris, Blair H Smith and David J Porteous
    Citation: BMC Medical Genetics 2013 14:38
  10. Venous Thrombosis (VT) is a common multifactorial disease with an estimated heritability between 35% and 60%. Known genetic polymorphisms identified so far only explain ~5% of the genetic variance of the disea...

    Authors: Nicolas Greliche, Marine Germain, Jean-Charles Lambert, William Cohen, Marion Bertrand, Anne-Marie Dupuis, Luc Letenneur, Mark Lathrop, Philippe Amouyel, Pierre-Emmanuel Morange and David-Alexandre Trégouët
    Citation: BMC Medical Genetics 2013 14:36
  11. Crohn’s disease (CD) is associated with elevated anti-glycans antibody response in 60% of CD patients, and 25% of healthy first-degree relatives (HFDRs), suggesting a genetic influence for this humoral respons...

    Authors: Francis Vasseur, Boualem Sendid, Franck Broly, Corinne Gower-Rousseau, Aurore Sarazin, Annie Standaert-Vitse, Jean-Frederic Colombel, Daniel Poulain and Thierry Jouault
    Citation: BMC Medical Genetics 2013 14:35
  12. Recent studies supported associations between four NMDA-receptor-mediated signalling genes (D-amino acid oxidase, DAO; D-amino acid oxidase activator, DAOA; protein phosphatase 3 catalytic subunit gamma isoform,

    Authors: Emilio Sacchetti, Catia Scassellati, Alessandra Minelli, Paolo Valsecchi, Cristian Bonvicini, Patrizio Pasqualetti, Alessandro Galluzzo, Rosaria Pioli and Massimo Gennarelli
    Citation: BMC Medical Genetics 2013 14:33
  13. MMP1 is implicated in the pathogenesis of atherothrombotic cardiovascular disease. We aimed to elucidate genetic determinants of inflammatory marker levels, including circulating MMP1, in Taiwanese, and their ...

    Authors: Hsuan-Li Huang, Semon Wu, Lung-An Hsu, Ming-Sheng Teng, Jeng-Feng Lin, Yu-Chen Sun and Yu-Lin Ko
    Citation: BMC Medical Genetics 2013 14:30
  14. Large-scale analysis of the transmission, mutation characteristics and the relationship between the reading frame and phenotype of the DMD gene has previously been performed in several countries, however, analogo...

    Authors: Juan Yang, Shao Y Li, Ya Q Li, Ji Q Cao, Shan W Feng, Yan Y Wang, Yi X Zhan, Chang S Yu, Fei Chen, Jing Li, Xiao F Sun and Cheng Zhang
    Citation: BMC Medical Genetics 2013 14:29
  15. Serum 25-hydroxyvitamin D3 (Vitamin D) insufficiency and single-nucleotide polymorphisms (SNPs) on its receptor, Vitamin D receptor (VDR), have been reported to be involved in melanoma susceptibility in populatio...

    Authors: Zighereda Ogbah, Laura Visa, Celia Badenas, José Ríos, Joan Anton Puig-Butille, Nuria Bonifaci, Elisabet Guino, Josep Maria Augé, Isabel Kolm, Cristina Carrera, Miquel Ángel Pujana, Josep Malvehy and Susana Puig
    Citation: BMC Medical Genetics 2013 14:26
  16. Diabetes mellitus type 2 (DM2) is highly associated with increased risk for chronic kidney disease (CKD), end stage renal disease (ESRD) and cardiovascular morbidity. Epidemiological and genetic studies genera...

    Authors: Lena Dörhöfer, Alexander Lammert, Vera Krane, Mathias Gorski, Bernhard Banas, Christoph Wanner, Bernhard K Krämer, Iris M Heid and Carsten A Böger
    Citation: BMC Medical Genetics 2013 14:25
  17. Atherosclerosis is the primary cause of coronary heart disease (CHD), preceding the onset of cardiovascular disease by decades in most cases. Here we examine the association between single nucleotide polymorph...

    Authors: Sonali Pechlivanis, Thomas W Mühleisen, Stefan Möhlenkamp, Dirk Schadendorf, Raimund Erbel, Karl-Heinz Jöckel, Per Hoffmann, Markus M Nöthen, André Scherag and Susanne Moebus
    Citation: BMC Medical Genetics 2013 14:23
  18. Recent genome wide association studies (GWAS) and previous positional linkage studies have identified more than 50 single nucleotide polymorphisms (SNPs) associated with obesity, mostly in Europeans. We aimed ...

    Authors: Aurora Mejía-Benítez, Miguel Klünder-Klünder, Loic Yengo, David Meyre, Celia Aradillas, Esperanza Cruz, Elva Pérez-Luque, Juan Manuel Malacara, Maria Eugenia Garay, Jesús Peralta-Romero, Samuel Flores-Huerta, Jaime García-Mena, Philippe Froguel, Miguel Cruz and Amélie Bonnefond
    Citation: BMC Medical Genetics 2013 14:21
  19. The microsomal triglyceride transfer protein (MTTP) is encoded by the MTTP gene that is regulated by cholesterol in humans. Previous studies investigating the effect of MTTP on ischemic heart disease have produce...

    Authors: Romina di Giuseppe, Sonali Pechlivanis, Eva Fisher, Maria Arregui, Beate Weikert, Sven Knüppel, Brian Buijsse, Andreas Fritsche, Stefan N Willich, Hans-Georg Joost, Heiner Boeing, Susanne Moebus and Cornelia Weikert
    Citation: BMC Medical Genetics 2013 14:19
  20. Low levels of serum adiponectin have been linked to central obesity, insulin resistance, metabolic syndrome, and type 2 diabetes. Variants in ADIPOQ, the gene encoding adiponectin, have been shown to influence se...

    Authors: Kirsten E Peters, John Beilby, Gemma Cadby, Nicole M Warrington, David G Bruce, Wendy A Davis, Timothy ME Davis, Steven Wiltshire, Matthew Knuiman, Brendan M McQuillan, Lyle J Palmer, Peter L Thompson and Joseph Hung
    Citation: BMC Medical Genetics 2013 14:15
  21. A partial duplication of the distal long arm of chromosome 5 (5q35-- > qter) is known to be associated with a distinct phenotype referred to as Hunter-McAlpine syndrome. Clinical spectrum of this disorder main...

    Authors: Aleksander Jamsheer, Anna Sowińska, Dorota Simon, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak and Anna Latos-Bieleńska
    Citation: BMC Medical Genetics 2013 14:13
  22. Proper expression and functioning of transcription factors (TFs) are essential for regulation of different traits and thus could be crucial for the development of complex diseases. Subjects with Down syndrome ...

    Authors: Arpita Chatterjee, Samikshan Dutta, Sanjit Mukherjee, Nupur Mukherjee, Avirup Dutta, Ashis Mukherjee, Swagata Sinha, Chinmay Kumar Panda, Keya Chaudhuri, Ananda L Roy and Kanchan Mukhopadhyay
    Citation: BMC Medical Genetics 2013 14:12
  23. Associations between transcription factor 7-like 2 (TCF7L2) polymorphisms and type 2 diabetes mellitus (T2DM) have been evaluated extensively in multiple ethnic groups. TCF7L2 has emerged as the strongest T2DM su...

    Authors: Jinjin Wang, Fulan Hu, Tianping Feng, Jingzhi Zhao, Lei Yin, Linlin Li, Yan Wang, Qian Wang and Dongsheng Hu
    Citation: BMC Medical Genetics 2013 14:8
  24. Although smoking behavior is known to affect body mass index (BMI), the potential for smoking to influence genetic associations with BMI is largely unexplored.

    Authors: Megan D Fesinmeyer, Kari E North, Unhee Lim, Petra Bůžková, Dana C Crawford, Jeffrey Haessler, Myron D Gross, Jay H Fowke, Robert Goodloe, Shelley-Ann Love, Misa Graff, Christopher S Carlson, Lewis H Kuller, Tara C Matise, Ching-Ping Hong, Brian E Henderson…
    Citation: BMC Medical Genetics 2013 14:6
  25. The PALB2 c.2323C>T [p.Q775X] mutation has been reported in at least three breast cancer families and breast cancer cases of French Canadian descent and this has been attributed to common ancestors. The number of...

    Authors: Marc Tischkowitz, Nelly Sabbaghian, Nancy Hamel, Carly Pouchet, William D Foulkes, Anne-Marie Mes-Masson, Diane M Provencher and Patricia N Tonin
    Citation: BMC Medical Genetics 2013 14:5
  26. Age-related macular degeneration (AMD) is the leading cause of vision loss in elderly, Caucasian populations. There is strong evidence that mitochondrial dysfunction and oxidative stress play a role in the cel...

    Authors: M Cristina Kenney, Dieter Hertzog, Garrick Chak, Shari R Atilano, Nikan Khatibi, Kyaw Soe, Andrew Nobe, Elizabeth Yang, Marilyn Chwa, Feilin Zhu, Masood Memarzadeh, Jacqueline King, Jonathan Langberg, Kent Small, Anthony B Nesburn, David S Boyer…
    Citation: BMC Medical Genetics 2013 14:4
  27. Von Hippel-Lindau disease is an autosomal dominantly inherited highly penetrant tumor syndrome predisposing to retinal and central nervous system hemangioblastomas, renal cell carcinoma and phaeochromocytoma a...

    Authors: Gergely Losonczy, Ferenc Fazakas, György Pfliegler, István Komáromi, Erzsébet Balázs, Krisztina Pénzes and András Berta
    Citation: BMC Medical Genetics 2013 14:3
  28. Although numerous candidate gene and genome-wide association studies have been performed on blood pressure, a small number of regulating genetic variants having a limited effect have been identified. This phen...

    Authors: Ndeye Coumba Ndiaye, El Shamieh Said, Maria G Stathopoulou, Gérard Siest, Michael Y Tsai and Sophie Visvikis-Siest
    Citation: BMC Medical Genetics 2013 14:2
  29. Recurrent miscarriage affects approximately 1% of all couples. There is a known relation between hypothyroidism and recurrent miscarriage. Phosphodiesterase 8B (PDE8B) is a regulator of cyclic adenosine monoph...

    Authors: Michaela Granfors, Helena Karypidis, Frida Hosseini, Lottie Skjöldebrand-Sparre, Anneli Stavreus-Evers, Katarina Bremme, Britth-Marie Landgren, Inger Sundström-Poromaa, Anna-Karin Wikström and Helena Åkerud
    Citation: BMC Medical Genetics 2012 13:121
  30. Emerging evidence has shown that miRNAs are involved in human carcinogenesis as tumor suppressors or oncogenes. Single nucleotide polymorphisms (SNPs) located in pre-miRNAs may affect the processing and theref...

    Authors: José Juvenal Linhares, Marcos Azevedo Jr, Adalberto Abraão Siufi, Cristina Valleta de Carvalho, Maria Del Carmen Garcia Molina Wolgien, Emmanuelle Coelho Noronha, Tatiana Carvalho de Souza Bonetti and Ismael Dale Cotrim Guerreiro da Silva
    Citation: BMC Medical Genetics 2012 13:119
  31. Graves disease (GD) is an organ-specific autoimmune disease characterized by hyperthyroidism, diffuse goiter, autoantibodies against thyroid-specific antigens, and dermopathy. Studies of GD have demonstrated t...

    Authors: Kun-Hsi Tsai, Fuu-Jen Tsai, Hui-Ju Lin, Hung-Jung Lin, Yu-Huei Liu, Wen-Ling Liao and Lei Wan
    Citation: BMC Medical Genetics 2012 13:116
  32. E-selectin is implicated in various inflammatory processes and related disorders. We aimed to investigate the role of SELE-gene genotypes/haplotypes on plasma levels of MMP9 and sE-selectin in Taiwanese individua...

    Authors: Semon Wu, Lung-An Hsu, Ming-Sheng Teng, Jeng-Feng Lin, Hsien-Hsun Chang, Yu-Chen Sun, Hsuan-Pu Chen and Yu-Lin Ko
    Citation: BMC Medical Genetics 2012 13:115
  33. Technological leaps in genome sequencing have resulted in a surge in discovery of human disease genes. These discoveries have led to increased clarity on the molecular pathology of disease and have also demons...

    Authors: Marlena Duda, Tristan Nelson and Dennis P Wall
    Citation: BMC Medical Genetics 2012 13:114
  34. Nonalcoholic fatty liver disease (NAFLD) is an escalating medical problem worldwide. A nonsynonymous single nucleotide polymorphism rs738409 (I148M) in patatin-like phospholipase domain-containing protein 3 (PNPL...

    Authors: Yiling Li, Chao Xing, Zhong Tian and Hung-Chih Ku
    Citation: BMC Medical Genetics 2012 13:113
  35. This study investigated variation in NR1I2 and NR1I3 and its effect on plasma efavirenz levels in HIV/AIDS patients. Variability in plasma drug levels has largely led research on identifying causative variants in...

    Authors: Marelize Swart, Heather Whitehorn, Yuan Ren, Peter Smith, Rajkumar S Ramesar and Collet Dandara
    Citation: BMC Medical Genetics 2012 13:112
  36. Polymorphisms spanning genes involved in the production of leukotriene B4 (LTB4) e.g. ALOX5AP and LTA4H are associated with asthma susceptibility, suggesting a role for LTB4 in disease. The contribution of LTB ...

    Authors: Asif S Tulah, Bianca Beghé, Sheila J Barton, John W Holloway and Ian Sayers
    Citation: BMC Medical Genetics 2012 13:110
  37. Interleukin (IL)-18, an important proinflammatory cytokine, plays a potential pathological role in rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Studies on the relationship of IL-18 gene pr...

    Authors: Shuilian Chen, Feng Jiang, Jiangping Ren, Jiajing Liu and Wei Meng
    Citation: BMC Medical Genetics 2012 13:107
  38. Blood coagulation is an essential determinant of coronary artery disease (CAD). Soluble Endothelial Protein C Receptor (sEPCR) may be a biomarker of a hypercoagulable state. We prospectively investigated the r...

    Authors: Choumous Kallel, William Cohen, Noémie Saut, Stefan Blankenberg, Renate Schnabel, Hans J Rupprecht, Christoph Bickel, Thomas Munzel, David-Alexandre Tregouet and Pierre-Emmanuel Morange
    Citation: BMC Medical Genetics 2012 13:103
  39. The atrial gap junction protein connexin-40 (Cx40) has been implicated to play an important role in atrial conduction and development of atrial fibrillation (AF). However, the frequency of Cx40 mutations in AF...

    Authors: Gregory D Tchou, Robert C Wirka, David R Van Wagoner, John Barnard, Mina K Chung and Jonathan D Smith
    Citation: BMC Medical Genetics 2012 13:102
  40. Obesity has become a common human disorder associated with significant morbidity and mortality and adverse effects on quality of life. Sequence variants in two candidate genes, FTO and UCP-1, have been reported t...

    Authors: Adauto V Ramos, Luciana Bastos-Rodrigues, Bruna A Resende, Eitan Friedman, Luciana Campanha-Versiani, Debora M Miranda, Marta Sarquis and Luiz De Marco
    Citation: BMC Medical Genetics 2012 13:101
  41. The x-ray cross complementing group 1 gene (XRCC1) is crucial to proper repair of DNA damage such as single-strand DNA breaks. A non-synonymous polymorphism in XRCC1, 399 G → A, has been shown to reduce effective...

    Authors: Daniel I Jacobs and Michael B Bracken
    Citation: BMC Medical Genetics 2012 13:97
  42. The majority of non-syndromic colorectal cancers (CRCs) can be described as a complex disease. A two-stage case–control study on CRC susceptibility was conducted to assess the influence of the ancestral allele...

    Authors: Stefanie Huhn, Melanie Bevier, Anja Rudolph, Barbara Pardini, Alessio Naccarati, Rebecca Hein, Michael Hoffmeister, Ludmila Vodickova, Jan Novotny, Hermann Brenner, Jenny Chang-Claude, Kari Hemminki, Pavel Vodicka and Asta Försti
    Citation: BMC Medical Genetics 2012 13:94
  43. Insulin resistance (IR) and endothelial dysfunction are frequently associated in cardiac disease. The T−786→C variant in the promoter region of the endothelial nitric oxide synthase (eNOS) gene has been associate...

    Authors: Cecilia Vecoli, Maria Grazia Andreassi, Riccardo Liga, Maria Giovanna Colombo, Michele Coceani, Clara Carpeggiani, Antonio L’Abbate and Danilo Neglia
    Citation: BMC Medical Genetics 2012 13:92
  44. In observational epidemiological studies type 2 diabetes (T2D) and both low and high plasma concentrations of fasting glucose have been found to be associated with lower cognitive performance. These associatio...

    Authors: Carolina Bonilla, Debbie A Lawlor, Yoav Ben–Shlomo, Andrew R Ness, David Gunnell, Susan M Ring, George Davey Smith and Sarah J Lewis
    Citation: BMC Medical Genetics 2012 13:90
  45. Thymic stromal lymphopoietin (TSLP) is an epithelial cell-derived cytokine, implicated in the development and progression of allergic diseases. Recent studies have demonstrated significantly increased expressi...

    Authors: Yuan Zhang, Xiaohong Song, Yanming Zhao, Luo Zhang and Claus Bachert
    Citation: BMC Medical Genetics 2012 13:79
  46. In recent genetic association studies, common variants including rs12917707 in the UMOD locus have shown strong evidence of association with eGFR, prevalent and incident chronic kidney disease and uromodulin urin...

    Authors: Anna Reznichenko, Carsten A Böger, Harold Snieder, Jacob van den Born, Martin H de Borst, Jeffrey Damman, Marcory CRF van Dijk, Harry van Goor, Bouke G Hepkema, Jan-Luuk Hillebrands, Henri GD Leuvenink, Jan Niesing, Stephan JL Bakker, Marc Seelen and Gerjan Navis
    Citation: BMC Medical Genetics 2012 13:78
  47. Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first po...

    Authors: Hiart Maortua, Cristina Martínez-Bouzas, María-Teresa Calvo, Maria-Rosario Domingo, Feliciano Ramos, Ainhoa García-Ribes, María-Jesús Martínez, María-Asunción López-Aríztegui, Nerea Puente, Izaskun Rubio and María-Isabel Tejada
    Citation: BMC Medical Genetics 2012 13:68
  48. The Toll-like receptor proteins are important in host defense and initiation of the innate and adaptive immune responses. A number of studies have identified associations between genetic variation in the Toll-...

    Authors: Daniel Nilsson, Anand Kumar Andiappan, Christer Halldén, Wang De Yun, Torbjörn Säll, Chew Fook Tim and Lars-Olaf Cardell
    Citation: BMC Medical Genetics 2012 13:66
  49. Neural tube defects (NTDs) are common birth defects (~1 in 1000 pregnancies in the US and Europe) that have complex origins, including environmental and genetic factors. A low level of maternal folate is one w...

    Authors: Faith Pangilinan, Anne M Molloy, James L Mills, James F Troendle, Anne Parle-McDermott, Caroline Signore, Valerie B O’Leary, Peter Chines, Jessica M Seay, Kerry Geiler-Samerotte, Adam Mitchell, Julia E VanderMeer, Kristine M Krebs, Angelica Sanchez, Joshua Cornman-Homonoff, Nicole Stone…
    Citation: BMC Medical Genetics 2012 13:62