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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. An osteoarthritis (OA) susceptibility locus has been mapped to chromosome 3p21, to a region of high linkage disequilibrium encompassing twelve genes. Six of these genes are expressed in joint tissues and we th...

    Authors: Fiona Gee, Clare F Clubbs, Emma VA Raine, Louise N Reynard and John Loughlin
    Citation: BMC Medical Genetics 2014 15:53
  2. Kidney stone disease (KSD) is a complex disorder with unknown etiology in majority of the patients. Genetic and environmental factors may cause the disease. In the present study, we used DNA microarray to geno...

    Authors: Nanyawan Rungroj, Choochai Nettuwakul, Nirinya Sudtachat, Oranud Praditsap, Nunghathai Sawasdee, Suchai Sritippayawan, Duangporn Chuawattana and Pa-thai Yenchitsomanus
    Citation: BMC Medical Genetics 2014 15:50
  3. The well-known genetic polymorphisms in ADH1B(His47Arg) and ALDH2(Glu487Lys) have dramatic effects on the rate of metabolizing alcohol and acetaldehyde. We investigated possible involvement of these functional po...

    Authors: Seung Kyu Park, Choon-Sik Park, Hyo-Suk Lee, Kyong Soo Park, Byung Lae Park, Hyun Sub Cheong and Hyoung Doo Shin
    Citation: BMC Medical Genetics 2014 15:40
  4. Migraine is a common neurovascular disorder with symptoms including headache of moderate to severe intensity and recurring attacks. There is no cure for migraine today and the pathology is poorly understood. C...

    Authors: Caroline Ran, Lisette Graae, Patrik KE Magnusson, Nancy L Pedersen, Lars Olson and Andrea C Belin
    Citation: BMC Medical Genetics 2014 15:38
  5. Long QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing mutations have been identified in 13 genes, all of which ...

    Authors: Michael Christiansen, Paula L Hedley, Juliane Theilade, Birgitte Stoevring, Trond P Leren, Ole Eschen, Karina M Sørensen, Anne Tybjærg-Hansen, Lilian B Ousager, Lisbeth N Pedersen, Ruth Frikke-Schmidt, Frederik H Aidt, Michael G Hansen, Jim Hansen, Poul E Bloch Thomsen, Egon Toft…
    Citation: BMC Medical Genetics 2014 15:31
  6. Preeclampsia is associated with an increased risk of hypertension later in life. The regulator of G protein signaling 2 negatively regulates several vasoconstrictors. We recently demonstrated an association be...

    Authors: Anne Stine Kvehaugen, Øyvind Melien, Oddgeir L Holmen, Hannele Laivuori, Ralf Dechend and Anne Cathrine Staff
    Citation: BMC Medical Genetics 2014 15:28
  7. Cystic fibrosis (CF) clinically manifests with various levels of severity, which are thought to be modulated by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR), modifier genes, an...

    Authors: Fernando Augusto de Fernando Augusto de Lima Marson, Carmen Silvia Bertuzzo, Antonio Fernando Ribeiro and Jose Dirceu Ribeiro
    Citation: BMC Medical Genetics 2014 15:27
  8. Bicuspid aortic valve (BAV) is the most frequent congenital heart disease with frequent involvement in thoracic aortic dilatation, aneurysm and dissection. Although BAV and Marfan syndrome (MFS) share some cli...

    Authors: Guglielmina Pepe, Stefano Nistri, Betti Giusti, Elena Sticchi, Monica Attanasio, Cristina Porciani, Rosanna Abbate, Robert O Bonow, Magdi Yacoub and Gian Franco Gensini
    Citation: BMC Medical Genetics 2014 15:23
  9. Otitis media (OM) is a common childhood disease characterised by middle ear effusion and inflammation. Susceptibility to recurrent acute OM and chronic OM with effusion is 40-70% heritable. Linkage studies pro...

    Authors: Marie S Rye, Elizabeth SH Scaman, Ruth B Thornton, Shyan Vijayasekaran, Harvey L Coates, Richard W Francis, Craig E Pennell, Jenefer M Blackwell and Sarra E Jamieson
    Citation: BMC Medical Genetics 2014 15:18
  10. Mismatch repair (MMR) genes are known to be frequently altered in colorectal cancer (CRC). Both genetics and epigenetics modifications seems to be relevant in this phenomenon, however it is still not clear how...

    Authors: Veronika Polakova Vymetalkova, Jana Slyskova, Vlasta Korenkova, Ludovit Bielik, Lucie Langerova, Pavel Prochazka, Alexandra Rejhova, Lucie Schwarzova, Barbara Pardini, Alessio Naccarati and Pavel Vodicka
    Citation: BMC Medical Genetics 2014 15:17
  11. The identification of disease causing, or putative disease causing, mutations in index patients with Charcot-Marie-Tooth disease (CMT) allows for genetic testing of family members. Relevant variants identified...

    Authors: Rune Østern, Toril Fagerheim, Helene Hjellnes, Bjørn Nygård, Svein Ivar Mellgren and Øivind Nilssen
    Citation: BMC Medical Genetics 2014 15:12
  12. Tuberculosis is a major infectious disease and functional studies have provided evidence that both the chemokine MIP-1α and its receptor CCR5 play a role in susceptibility to TB. Thus by measuring copy number ...

    Authors: Danielle Carpenter, Carmen Taype, Jon Goulding, Mike Levin, Brian Eley, Suzanne Anderson, Marie-Anne Shaw and John AL Armour
    Citation: BMC Medical Genetics 2014 15:5
  13. Recently, genome-wide association studies (GWAS) for cases versus controls using single nucleotide polymorphism microarray data have shown promising findings for complex neuropsychiatric disorders, including b...

    Authors: Wei Xu, Sarah Cohen-Woods, Qian Chen, Abdul Noor, Jo Knight, Georgina Hosang, Sagar V Parikh, Vincenzo De Luca, Federica Tozzi, Pierandrea Muglia, Julia Forte, Andrew McQuillin, Pingzhao Hu, Hugh MD Gurling, James L Kennedy, Peter McGuffin…
    Citation: BMC Medical Genetics 2014 15:2
  14. Familial hypercholesterolemia (FH) is a human monogenic disease induced by a variety of mutations with striking genetic diversity. Despite this variability recurrent mutations occur in each population studied,...

    Authors: Tatiana Yu Komarova, Victoria A Korneva, Tatiana Yu Kuznetsova, Alexandra S Golovina, Vadim B Vasilyev and Michail Yu Mandelshtam
    Citation: BMC Medical Genetics 2013 14:128
  15. Adiponectin Q is a hormone that modulates several metabolic processes and contributes to the suppression of biochemical pathways leading to metabolic syndrome. Hence, polymorphic changes in the adiponectin Q (ADI...

    Authors: Nzioka Muiya, Mohammed Al-Najai, Asma I Tahir, Samar Elhawari, Daisy Gueco, Editha Andres, Nejat Mazhar, Nada Altassan, Brian F Meyer, Maie Alshahid and Nduna Dzimiri
    Citation: BMC Medical Genetics 2013 14:127
  16. Charcot-Marie-Tooth disease (CMT) is a heterogeneous disorder of the peripheral nervous system. So far, mutations in hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional pro...

    Authors: Young Bin Hong, Ja Hyun Lee, Jin-Mo Park, Yu-Ri Choi, Young Se Hyun, Bo Ram Yoon, Jeong Hyun Yoo, Heasoo Koo, Sung-Chul Jung, Ki Wha Chung and Byung-Ok Choi
    Citation: BMC Medical Genetics 2013 14:125
  17. Variants in the FTO gene have been associated with obesity in children, but this association has not been shown with other biomarkers. We assessed the association of 52 FTO polymorphisms, spanning the whole gene,...

    Authors: Josune Olza, Azahara I Ruperez, Mercedes Gil-Campos, Rosaura Leis, Dietmar Fernandez-Orth, Rafael Tojo, Ramon Cañete, Angel Gil and Concepcion M Aguilera
    Citation: BMC Medical Genetics 2013 14:123
  18. Vitamin D is associated with lung health in epidemiologic studies, but mechanisms mediating observed associations are poorly understood. This study explores mechanisms for an effect of vitamin D in lung throug...

    Authors: Brian J Reardon, Joyanna G Hansen, Ronald G Crystal, Denise K Houston, Stephen B Kritchevsky, Tamara Harris, Kurt Lohman, Yongmei Liu, George T O’Connor, Jemma B Wilk, Jason Mezey, Chuan Gao and Patricia A Cassano
    Citation: BMC Medical Genetics 2013 14:122
  19. Gallstone disease is one of the most common digestive disorders, affecting more than 30 million Americans. Previous twin studies suggest a heritability of 25% for gallstone formation. To date, one genome-wide ...

    Authors: Robert Goodloe, Kristin Brown-Gentry, Niloufar B Gillani, Hailing Jin, Ping Mayo, Melissa Allen, Bob McClellan Jr, Jonathan Boston, Cara Sutcliffe, Nathalie Schnetz-Boutaud, Holli H Dilks and Dana C Crawford
    Citation: BMC Medical Genetics 2013 14:120
  20. Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H + −ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, lar...

    Authors: Donia Elhayek, Gustavo Perez de Nanclares, Slaheddine Chouchane, Saber Hamami, Adnène Mlika, Monia Troudi, Nadia Leban, Wafa Ben Romdane, Mohamed Neji Gueddiche, Féthi El Amri, Samir Mrabet, Jemni Ben Chibani, Luis Castaño, Amel Haj Khelil and Gema Ariceta
    Citation: BMC Medical Genetics 2013 14:119
  21. The Angiotensin-Converting Enzyme-2 (ACE2) gene, located on chromosome X, is believed to be implicated in blood pressure regulation. However the few studies that have examined this association have yielded mix...

    Authors: Lucile Malard, Lisa Kakinami, Jennifer O’Loughlin, Marie-Hélène Roy-Gagnon, Aurélie Labbe, Louise Pilote, Pavel Hamet, Johanne Tremblay and Gilles Paradis
    Citation: BMC Medical Genetics 2013 14:117
  22. Several studies in type 2 diabetes patients have shown significant associations between the SOD2 gene Val16Ala polymorphism and albuminuria, but this association has not been explored in the Mexican population.

    Authors: Iván de Jesús Ascencio-Montiel, Esteban J Parra, Adán Valladares-Salgado, Jaime H Gómez-Zamudio, Jesús Kumate-Rodriguez, Jorge Escobedo-de-la-Peña and Miguel Cruz
    Citation: BMC Medical Genetics 2013 14:110
  23. IL-33, an IL-1-like cytokine, is a ligand for IL1RL1, which is an important effector molecule of type 2 T helper responses. Although IL-33/IL1RL1 interaction has been suggested to be important in the developme...

    Authors: Liang Guo, Xinghu Zhou, Xiaofan Guo, Xingang Zhang and Yingxian Sun
    Citation: BMC Medical Genetics 2013 14:109
  24. Congenital cataract is a Mendelian disorder that frequently causes blindness in infants. To date, various cataract-associated loci have been mapped; more than 30 genes have been identified by linkage analysis....

    Authors: Xueyuan Jia, Feng Zhang, Jing Bai, Linghan Gao, Xuelong Zhang, Haiming Sun, Donglin Sun, Rongwei Guan, Wenjing Sun, Lidan Xu, Zhichao Yue, Yang Yu and Songbin Fu
    Citation: BMC Medical Genetics 2013 14:107
  25. Vitamin D deficiency rickets is common in China. Genetic factors may play an important role in the susceptibility to rickets. Our study aimed to identify the relationship between three vitamin D-related genes ...

    Authors: Yuling Zhang, Shufen Yang, Ye Liu and Lihong Ren
    Citation: BMC Medical Genetics 2013 14:101
  26. Asthma genome-wide association studies (GWAS) have identified several asthma susceptibility genes with confidence; however the relative contribution of these genetic variants or single nucleotide polymorphisms...

    Authors: Asif S Tulah, John W Holloway and Ian Sayers
    Citation: BMC Medical Genetics 2013 14:100
  27. Delayed neuropsychological sequelae (DNS) are the most severe and clinically intractable complications following acute carbon monoxide (CO) poisoning. Symptoms of DNS often resemble those of Parkinson’s diseas...

    Authors: Fei Liang, Wenqiang Li, Ping Zhang, Yanxia Zhang, Jiapeng Gu, Xiahong Wang, Hongxing Zhang and Renjun Gu
    Citation: BMC Medical Genetics 2013 14:99
  28. Multiple genome-wide association studies (GWAS) within European populations have implicated common genetic variants associated with insulin and glucose concentrations. In contrast, few studies have been conduc...

    Authors: Megan D Fesinmeyer, James B Meigs, Kari E North, Fredrick R Schumacher, Petra Bůžková, Nora Franceschini, Jeffrey Haessler, Robert Goodloe, Kylee L Spencer, Venkata Saroja Voruganti, Barbara V Howard, Rebecca Jackson, Laurence N Kolonel, Simin Liu, JoAnn E Manson, Kristine R Monroe…
    Citation: BMC Medical Genetics 2013 14:98
  29. Tumor-specific, coordinate expression of cancer-testis (CT) genes, mapping to the X chromosome, is observed in more than 60% of non-small cell lung cancer (NSCLC) patients. Although CT gene expression has been...

    Authors: Kerem M Senses, Mithat Gonen, Ahmet R Barutcu, Zeynep Kalaylioglu, Murat Isbilen, Ozlen Konu, Yao T Chen, Nasser K Altorki and Ali O Gure
    Citation: BMC Medical Genetics 2013 14:97
  30. Type 2 diabetes mellitus is increasing dramatically in sub-Saharan Africa, and genetic predisposition is likely involved in that. Yet, genetic variants known to confer increased susceptibility among Caucasians...

    Authors: Ina Danquah, Till Othmer, Laura K Frank, George Bedu-Addo, Matthias B Schulze and Frank P Mockenhaupt
    Citation: BMC Medical Genetics 2013 14:96
  31. Auditory neuropathy spectrum disorder (ANSD) is a unique form of hearing loss that involves absence or severe abnormality of auditory brainstem response (ABR), but also the presence of otoacoustic emissions (O...

    Authors: Yoh-ichiro Iwasa, Shin-ya Nishio, Hidekane Yoshimura, Yukihiko Kanda, Kozo Kumakawa, Satoko Abe, Yasushi Naito, Kyoko Nagai and Shin-ichi Usami
    Citation: BMC Medical Genetics 2013 14:95
  32. We investigated a potential link between genetic polymorphisms in genes XRCC1 (Arg399Gln), OGG1 (Ser326Cys), XRCC3 (Thr241Met), and XRCC4 (Ile401Thr) with the level of DNA damage and repair, accessed by comet and...

    Authors: Andréa Lúcia Gonçalves da Silva, Helen Tais da Rosa, Thaís Evelyn Karnopp, Clara Forrer Charlier, Joel Henrique Ellwanger, Dinara Jaqueline Moura, Lia Gonçalves Possuelo, Andréia Rosane de Moura Valim, Temenouga Nikolova Guecheva and João Antonio Pêgas Henriques
    Citation: BMC Medical Genetics 2013 14:93
  33. Variant Creutzfeldt-Jakob disease is an infectious, neurodegenerative, protein-misfolding disease, of the prion disease family, originally acquired through ingestion of meat products contaminated with bovine s...

    Authors: Matthew T Bishop, Pascual Sanchez-Juan and Richard SG Knight
    Citation: BMC Medical Genetics 2013 14:91
  34. APOAI, a member of the APOAI/CIII/IV/V gene cluster on chromosome 11q23-24, encodes a major protein component of HDL that has been associated with serum lipid levels. The aim of this study was to determine the...

    Authors: Suzanne A Al-Bustan, Ahmad E Al-Serri, Babitha G Annice, Majed A Alnaqeeb and Ghada A Ebrahim
    Citation: BMC Medical Genetics 2013 14:90
  35. Amyloidoses are a heterogeneous group of progressive diseases caused by tissue deposition of misfolded proteins. According to the International Classification of Diseases, hereditary amyloidosis is divided int...

    Authors: Kari Hemminki, Xinjun Li, Asta Försti, Jan Sundquist and Kristina Sundquist
    Citation: BMC Medical Genetics 2013 14:88
  36. Airway hyperresponsiveness (AHR), a primary characteristic of asthma, involves increased airway smooth muscle contractility in response to certain exposures. We sought to determine whether common genetic varia...

    Authors: Blanca E Himes, Weiliang Qiu, Barbara Klanderman, John Ziniti, Jody Senter-Sylvia, Stanley J Szefler, Robert F Lemanske, Jr, Robert S Zeiger, Robert C Strunk, Fernando D Martinez, Homer Boushey, Vernon M Chinchilli, Elliot Israel, David Mauger, Gerard H Koppelman, Maartje AE Nieuwenhuis…
    Citation: BMC Medical Genetics 2013 14:86
  37. Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia. He...

    Authors: Priya Landa, Ann-Marie Differ, Kaukab Rajput, Lucy Jenkins and Maria Bitner-Glindzicz
    Citation: BMC Medical Genetics 2013 14:85
  38. To Investigate whether the g.4760C>T polymorphism in the promoter region of the catalase gene (CAT) is a risk factor for primary angle closure glaucoma (PACG) in the Saudi population.

    Authors: Khaled K Abu-Amero, Taif Anwar Azad, Ahmed Mousa, Essam A Osman, Tahira Sultan and Saleh A Al-Obeidan
    Citation: BMC Medical Genetics 2013 14:84
  39. Testing for mutations in the BRCA1 and BRCA2 genes among high-risk breast cancer patients has become a routine practice among clinical geneticists. Unfortunately, however, the genetic background of a majority of ...

    Authors: Maria Haanpää, Katri Pylkäs, Jukka S Moilanen and Robert Winqvist
    Citation: BMC Medical Genetics 2013 14:82
  40. The triallelic serotonin transporter gene linked polymorphic region (5-HTTLPR) has been associated with alterations in thermal pain perception. The primary aim of this study was to investigate the associations...

    Authors: W Michael Hooten, William R Hartman, John Logan Black III, Heidi J Laures and Denise L Walker
    Citation: BMC Medical Genetics 2013 14:78
  41. Coronary heart disease (CHD) is the major cause of death in the United States. Coronary artery calcification (CAC) scores are independent predictors of CHD. African Americans (AA) have higher rates of CHD but ...

    Authors: Mary K Wojczynski, Mingyao Li, Lawrence F Bielak, Kathleen F Kerr, Alex P Reiner, Nathan D Wong, Lisa R Yanek, Liming Qu, Charles C White, Leslie A Lange, Jane F Ferguson, Jing He, Taylor Young, Thomas H Mosley, Jennifer A Smith, Brian G Kral…
    Citation: BMC Medical Genetics 2013 14:75
  42. The genetic heterogeneity of hearing loss makes genetic diagnosis expensive and time consuming using available methods. Whole-exome sequencing has recently been introduced as an alternative approach to identif...

    Authors: Hae-Mi Woo, Hong-Joon Park, Jeong-In Baek, Mi-Hyun Park, Un-Kyung Kim, Borum Sagong and Soo Kyung Koo
    Citation: BMC Medical Genetics 2013 14:72
  43. The Fas rs180082 polymorphism has been reported to be associated with cervical cancer susceptibility, yet the results of these previous results have been inconsistent or controversial. The objective of this study...

    Authors: Xu Chen, Wuning Mo, Qiliu Peng and Xiandu Su
    Citation: BMC Medical Genetics 2013 14:71
  44. Eczema is a prevalent skin disease that is mainly characterized by systemic deviation of immune response and defective epidermal barrier. Th2 cytokines, such as IL-13 and transcription factor STAT6 are key ele...

    Authors: Ali H Ziyab, Gwyneth A Davies, Susan Ewart, Julian M Hopkin, Eric M Schauberger, Marsha Wills-Karp, John W Holloway, Syed Hasan Arshad, Hongmei Zhang and Wilfried Karmaus
    Citation: BMC Medical Genetics 2013 14:67
  45. Studies have demonstrated associations between cytokine gene polymorphisms and the risk of idiopathic pulmonary fibrosis (IPF). We therefore examined polymorphisms in the genes encoding interleukin (IL)-6, IL-...

    Authors: Esam H Alhamad, Joseph G Cal, Zahid Shakoor, Adel Almogren and Ahmad A AlBoukai
    Citation: BMC Medical Genetics 2013 14:66
  46. Epidemiological studies have shown considerable heritability of blood pressure, thus suggesting a role for genetic factors. Previous studies have shown an association of a single nucleotide polymorphism rs5068 in...

    Authors: Amra Jujić, Margret Leosdottir, Gerd Östling, Petri Gudmundsson, Peter M Nilsson, Olle Melander and Martin Magnusson
    Citation: BMC Medical Genetics 2013 14:64
  47. The estimated ratio of hereditary breast/ovarian cancer (HBOC) based on family history is 1.5% in Latvia. This is significantly lower than the European average of 5–10%. Molecular markers like mutations and SN...

    Authors: Dace Berzina, Miki Nakazawa-Miklasevica, Jekaterina Zestkova, Karina Aksenoka, Arvids Irmejs, Andris Gardovskis, Dagnija Kalniete, Janis Gardovskis and Edvins Miklasevics
    Citation: BMC Medical Genetics 2013 14:61