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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. About 20 % of hereditary breast cancers are caused by mutations in BRCA1 and BRCA2 genes. Since BRCA1 and BRCA2 mutations may be spread throughout the gene, genetic testing is usually performed by direct sequenci...

    Authors: Giulia Cini, Massimo Mezzavilla, Lara Della Puppa, Elisa Cupelli, Alessio Fornasin, Angela Valentina D’Elia, Riccardo Dolcetti, Giuseppe Damante, Sara Bertok, Gianmaria Miolo, Roberta Maestro, Paolo de Paoli, Antonio Amoroso and Alessandra Viel
    Citation: BMC Medical Genetics 2016 17:11
  2. Large-scale genome-wide association studies have identified multiple genetic variants that are associated with elevated body mass index (BMI) or the risk of obesity in Caucasian or Asian populations. We examin...

    Authors: Hai-Jun Wang, Anke Hinney, Jie-Yun Song, André Scherag, Xiang-Rui Meng, Harald Grallert, Thomas Illig, Johannes Hebebrand, Yan Wang and Jun Ma
    Citation: BMC Medical Genetics 2016 17:7
  3. Multiple genetic variants have been reliably associated with obesity-related traits in Europeans, but little is known about their associations and interactions with lifestyle factors in South Asians.

    Authors: Shafqat Ahmad, Wei Zhao, Frida Renström, Asif Rasheed, Maria Samuel, Mozzam Zaidi, Nabi Shah, Nadeem Hayyat Mallick, Khan Shah Zaman, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-ur-Rheman Memon, Bashir Hanif, Muhammad Shakir Lakhani, Faisal Ahmed, Shahana Urooj Kazmi…
    Citation: BMC Medical Genetics 2015 16:114
  4. Osteoarthritis (OA) is a painful, debilitating disease characterised by loss of articular cartilage with concurrent changes in other tissues of the synovial joint. Genetic association studies have shown that a...

    Authors: Colin Shepherd, Andrew J. Skelton, Michael D. Rushton, Louise N. Reynard and John Loughlin
    Citation: BMC Medical Genetics 2015 16:108
  5. Schizophrenia is a complex, polygenic disorder for which over 100 genetic variants have been identified that correlate with diagnosis. However, the biological mechanisms underpinning the different symptom clus...

    Authors: Charlotte Hellmich, Claire Durant, Matthew W. Jones, Nicholas J. Timpson, Ullrich Bartsch and Laura J. Corbin
    Citation: BMC Medical Genetics 2015 16:96
  6. Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity...

    Authors: Ivone US Leong, Alexander Stuckey, Daniel Lai, Jonathan R Skinner and Donald R Love
    Citation: BMC Medical Genetics 2015 16:34
  7. Visual system homeobox gene (VSX1) plays a major role in the early development of craniofacial and ocular tissues including cone opsin gene in the human retina. To date, few disease-causing mutations of VSX1 have...

    Authors: Rohit Shetty, Rudy M.M.A. Nuijts, Soumya Ganesh Nanaiah, Venkata Ramana Anandula, Arkasubhra Ghosh, Chaitra Jayadev, Natasha Pahuja, Govindasamy Kumaramanickavel and Jeyabalan Nallathambi
    Citation: BMC Medical Genetics 2015 16:33
  8. Leptin (LEP) and adiponectin (ADIPOQ) genes encode adipokines that are mainly secreted by adipose tissues, involved in energy balance and suspected to play a role in the pathways linking adiposity to impaired glu...

    Authors: Andrée-Anne Houde, Cécilia Légaré, Simon Biron, Odette Lescelleur, Laurent Biertho, Simon Marceau, André Tchernof, Marie-Claude Vohl, Marie-France Hivert and Luigi Bouchard
    Citation: BMC Medical Genetics 2015 16:29
  9. A large number of single nucleotide polymorphisms (SNPs) associated with cervical cancer have been identified through candidate gene association studies and genome-wide association studies (GWAs). However, som...

    Authors: Shaoshuai Wang, Haiying Sun, Yao Jia, Fangxu Tang, Hang Zhou, Xiong Li, Jin Zhou, Kecheng Huang, Qinghua Zhang, Ting Hu, Ru Yang, Changyu Wang, Ling Xi, Dongrui Deng, Hui Wang, Shixuan Wang…
    Citation: BMC Medical Genetics 2015 16:25
  10. Specific germline mutations in the hereditary breast-ovarian cancer susceptibility (HBC/HBOC) genes, BRCA1, BRCA2 and PALB2, have been shown to recur in French Canadians of Quebec, Canada, and this has been at...

    Authors: Suzanna L Arcand, Mohammed R Akbari, Anne-Marie Mes-Masson, Diane Provencher, William D Foulkes, Steven A Narod and Patricia N Tonin
    Citation: BMC Medical Genetics 2015 16:24
  11. Transforming growth factor-β (TGF-β) plays an important role in regulating cellular functions, and many studies have demonstrated important roles for TGF-β in various cancers. Single nucleotide polymorphisms (...

    Authors: Yangwu Ren, Zhihua Yin, Kun Li, Yan Wan, Xuelian Li, Wei Wu, Peng Guan and Baosen Zhou
    Citation: BMC Medical Genetics 2015 16:22
  12. We investigated whether polymorphisms in the toll-like receptor genes or gene–gene interactions are associated with susceptibility to latent tuberculosis infection (LTBI) or subsequent pulmonary tuberculosis (...

    Authors: Linlin Wu, Yi Hu, Dange Li, Weili Jiang and Biao Xu
    Citation: BMC Medical Genetics 2015 16:19
  13. The variant rs11085226 (G) within the gene encoding polypyrimidine tract binding protein 1 (PTBP1) was reported to associate with reduced insulin release determined by an oral glucose tolerance test (OGTT) as wel...

    Authors: Tue H Hansen, Henrik Vestergaard, Torben Jørgensen, Marit Eika Jørgensen, Torsten Lauritzen, Ivan Brandslund, Cramer Christensen, Oluf Pedersen, Torben Hansen and Anette P Gjesing
    Citation: BMC Medical Genetics 2015 16:17
  14. The purpose of this study was to explore the effects of CYP2C19 gene polymorphisms and various environmental factors and their interactions on the risk of esophageal squamous cell carcinoma (ESCC) in a Chinese Ha...

    Authors: Xian-E Peng, Hua-Fang Chen, Zhi-Jian Hu and Xi-Shun Shi
    Citation: BMC Medical Genetics 2015 16:15
  15. Left ventricular hypertrophy (LVH) is a valid predictor for cardiovascular mortality and morbidity regardless of age, gender, and race. The HyperGEN study conducted a genome-wide association study and identifi...

    Authors: Jin-Kyu Park, Mi Kyung Kim, Bo Youl Choi, Yusun Jung, Kyuyoung Song, Yu Mi Kim and Jinho Shin
    Citation: BMC Medical Genetics 2015 16:13
  16. Polymorphisms of the CC chemokine receptor 6 (CCR6) and RNASET2 tag SNP have been shown to be associated with the susceptibility to several immune-related diseases. This study was conducted to identify the ass...

    Authors: Xiao-jun Chen, Xiao-hua Gong, Ni Yan, Shuai Meng, Qiu Qin, Yan-Fei Jiang, Hai-Yan Zheng and Jin-an Zhang
    Citation: BMC Medical Genetics 2015 16:11
  17. Common genetic variants residing near upstream regulatory elements for MYB, the gene encoding transcription factor cMYB, promote the persistence of fetal hemoglobin (HbF) into adulthood. While they have no conseq...

    Authors: Siana N Mtatiro, Josephine Mgaya, Tarjinder Singh, Harvest Mariki, Helen Rooks, Deogratius Soka, Bruno Mmbando, Swee Lay Thein, Jeffrey C Barrett, Julie Makani, Sharon E Cox and Stephan Menzel
    Citation: BMC Medical Genetics 2015 16:4
  18. Chromosome 9p21 variants are associated with cardiovascular disease (CVD) but not with any of its known risk markers. However, recent studies have suggested that the risk associated with 9p21 variation is modi...

    Authors: George Hindy, Ulrika Ericson, Viktor Hamrefors, Isabel Drake, Elisabet Wirfält, Olle Melander and Marju Orho-Melander
    Citation: BMC Medical Genetics 2014 15:1220
  19. Besides serum levels of PSA, there is a lack of prostate cancer specific biomarkers. It is need to develop new biological markers associated with the tumor behavior which would be valuable to better individual...

    Authors: Luis Alberto Henríquez-Hernández, Almudena Valenciano, Palmira Foro-Arnalot, María Jesús Álvarez-Cubero, José Manuel Cozar, José Francisco Suárez-Novo, Manel Castells-Esteve, Pablo Fernández-Gonzalo, Belén De-Paula-Carranza, Montse Ferrer, Ferrán Guedea, Gemma Sancho-Pardo, Jordi Craven-Bartle, María José Ortiz-Gordillo, Patricia Cabrera-Roldán, Estefanía Herrera-Ramos…
    Citation: BMC Medical Genetics 2014 15:143
  20. Recent genome-wide association studies have identified multiple loci that are associated with an increased risk of developing coronary artery disease (CAD). The impact of these loci on the disease severity and...

    Authors: Vincent G Haver, Niek Verweij, John Kjekshus, Jayne C Fox, Hans Wedel, John Wikstrand, Wiek H van Gilst, Rudolf A de Boer, Dirk J van Veldhuisen and Pim van der Harst
    Citation: BMC Medical Genetics 2014 15:140
  21. Mexican Americans, particularly those born in the United States, are at greater risk for alcohol associated morbidity and mortality. The present study sought to investigate whether specific genetic variants ma...

    Authors: Trina M Norden-Krichmar, Ian R Gizer, Kirk C Wilhelmsen, Nicholas J Schork and Cindy L Ehlers
    Citation: BMC Medical Genetics 2014 15:136
  22. Epidemiological studies have suggested that variants on adiponectin (ADIPOQ) and its receptor ADIPOR1 (adiponectin receptor 1) are associated with colorectal cancer (CRC) risk; however, the results were inconc...

    Authors: Yiyi Ou, Peizhan Chen, Ziyuan Zhou, Chenglin Li, Jinyi Liu, Kazuo Tajima, Junsheng Guo, Jia Cao and Hui Wang
    Citation: BMC Medical Genetics 2014 15:137
  23. The transcription factor Nrf2, encoded by the NFE2L2 gene, is an important regulator of the cellular protection against oxidative stress. Parkinson’s disease is a neurodegenerative disease highly associated with ...

    Authors: Malin von Otter, Petra Bergström, Aldo Quattrone, Elvira Valeria De Marco, Grazia Annesi, Peter Söderkvist, Stephanie Bezzina Wettinger, Marek Drozdzik, Monika Bialecka, Hans Nissbrandt, Christine Klein, Michael Nilsson, Ola Hammarsten, Staffan Nilsson and Henrik Zetterberg
    Citation: BMC Medical Genetics 2014 15:131
  24. MicroRNAs (miRNAs) are a family of endogenous, small and non-coding RNAs that regulate gene expression negatively at the post-transcriptional level by suppressing translation or degrading target mRNAs, and are...

    Authors: Chen Chen, Shenglan Yang, Sandip Chaugai, Yan Wang and Dao Wen Wang
    Citation: BMC Medical Genetics 2014 15:126
  25. Sepsis is now the leading cause of death in the non-cardiovascular intensive care unit (ICU). Recent research suggests that sepsis is likely to be due to an interaction between genetic and environmental factor...

    Authors: Haiyan Wang, Yesheng Wei, Yi Zeng, Yueqiu Qin, Bin Xiong, Gang Qin, Jun Li, Donghai Hu, Xiaowen Qiu, Suren R Sooranna and Liao Pinhu
    Citation: BMC Medical Genetics 2014 15:123
  26. Left ventricular (LV) function depends on the activity of transmembrane electrolyte transporters. Failing human myocardium has lower Na+/K+ ATPase expression and higher intracellular sodium concentrations. The AT...

    Authors: Judita Knez, Erika Salvi, Valérie Tikhonoff, Katarzyna Stolarz-Skrzypek, Andrew Ryabikov, Lutgarde Thijs, Daniele Braga, Malgorzata Kloch-Badelek, Sofia Malyutina, Edoardo Casiglia, Danuta Czarnecka, Kalina Kawecka-Jaszcz, Daniele Cusi, Tim Nawrot, Jan A Staessen and Tatiana Kuznetsova
    Citation: BMC Medical Genetics 2014 15:121
  27. Bronchopulmonary dysplasia (BPD) is a common chronic lung disease associated with very preterm birth. The major risk factors include lung inflammation and lung immaturity. In addition, genetic factors play an ...

    Authors: Johanna M Huusko, Minna K Karjalainen, Mari Mahlman, Ritva Haataja, M Anneli Kari, Sture Andersson, Gergely Toldi, Outi Tammela, Mika Rämet, Pascal M Lavoie and Mikko Hallman
    Citation: BMC Medical Genetics 2014 15:120
  28. Recent randomized controlled trials have challenged the concept that increased high density lipoprotein cholesterol (HDL-C) levels are associated with coronary artery disease (CAD) risk reduction. The causal r...

    Authors: Zhijun Wu, Yuqing Lou, Xiaochun Qiu, Yan Liu, Lin Lu, Qiujing Chen and Wei Jin
    Citation: BMC Medical Genetics 2014 15:118
  29. Splenic epidermoid cyst is a benign tumor-like lesion affecting the spleen and sometimes occurs in familial form. The causality of such rare diseases remain challenging, however recently, with the emergence of...

    Authors: Waleed H Omer, Akira Narita, Kazuyoshi Hosomichi, Shigeki Mitsunaga, Yasuhiro Hayashi, Atsushi Yamashita, Avdyl Krasniqi, Yuri Iwasaki, Masami Kimura and Ituro Inoue
    Citation: BMC Medical Genetics 2014 15:115
  30. Survival in follicular lymphoma (FL) is highly variable, even within prognostic groups defined by tumor grade and the Follicular Lymphoma International Prognostic Index. Studies suggest that germline single nu...

    Authors: Fredrik Baecklund, Jia-Nee Foo, Paige Bracci, Hatef Darabi, Robert Karlsson, Henrik Hjalgrim, Richard Rosenquist, Hans-Olov Adami, Bengt Glimelius, Mads Melbye, Lucia Conde, Jianjun Liu, Keith Humphreys, Christine F Skibola and Karin E Smedby
    Citation: BMC Medical Genetics 2014 15:113
  31. Neural tube defects (NTDs), which are among the most common congenital malformations, are influenced by environmental and genetic factors. Low maternal folate is the strongest known contributing factor, making...

    Authors: Faith Pangilinan, Anne M Molloy, James L Mills, James F Troendle, Anne Parle-McDermott, Denise M Kay, Marilyn L Browne, Emily C McGrath, Hatice Ozel Abaan, Marie Sutton, Peadar N Kirke, Michele Caggana, Barry Shane, John M Scott and Lawrence C Brody
    Citation: BMC Medical Genetics 2014 15:102
  32. Diabetes mellitus is the most common chronic endocrine disorder, affecting an estimated population of 382 million people worldwide. It is associated with microvascular and macrovascular complications, includin...

    Authors: Nyla Nazir, Khalid Siddiqui, Sara Al-Qasim and Dhekra Al-Naqeb
    Citation: BMC Medical Genetics 2014 15:103
  33. SIRT1 and FOXO1 interact with each other in multiple pathways regulating aging, metabolism and resistance to oxidative stress and control different pathways involved in atherosclerotic process. It is not known...

    Authors: Lyudmyla Kedenko, Claudia Lamina, Igor Kedenko, Barbara Kollerits, Tobias Kiesslich, Bernhard Iglseder, Florian Kronenberg and Bernhard Paulweber
    Citation: BMC Medical Genetics 2014 15:112
  34. The relationship between glucose-6-phosphate dehydrogenase (G6PD) deficiency and clinical phenomena such as primaquine-sensitivity and protection from severe malaria remains poorly defined, with past associati...

    Authors: Shivang S Shah, Alex Macharia, Johnstone Makale, Sophie Uyoga, Katja Kivinen, Rachel Craik, Christina Hubbart, Thomas E Wellems, Kirk A Rockett, Dominic P Kwiatkowski and Thomas N Williams
    Citation: BMC Medical Genetics 2014 15:93
  35. Single nucleotide polymorphisms (SNPs) within the 9p21.3 genomic region have been consistently associated with coronary heart disease (CHD), myocardial infarction, and quantity of coronary artery calcification...

    Authors: Daniel S Kim, Jennifer A Smith, Lawrence F Bielak, Chun-Yi Wu, Yan V Sun, Patrick F Sheedy, Stephen T Turner, Patricia A Peyser and Sharon LR Kardia
    Citation: BMC Medical Genetics 2014 15:89
  36. Inflammation is a response of body tissues to injury or irritation. Small RNAs, such as miR-146a and miR-499, participate in various processes of tumorigenesis. A recent study indicates that inflammation and a...

    Authors: Jiajing Liu, Bo Xie, Shuilian Chen, Feng Jiang and Wei Meng
    Citation: BMC Medical Genetics 2014 15:92
  37. A genome-wide association study uncovered Chitinase 3 like 1 (CHI3L1) as a candidate gene for asthma susceptibility. CHI3L1, which encodes the YKL-40 protein, is associated with asthma in Western European and Ame...

    Authors: Yishan Tsai, Yingchin Ko, Mingshyan Huang, Mengchih Lin, Chaochien Wu, Chinchou Wang, Yunxuan Chen, Jianing Li, Yuting Tseng and Tsunai Wang
    Citation: BMC Medical Genetics 2014 15:86
  38. Hypertension is a very common cardiovascular disease influenced by multiple genetic and environmental factors. More recently, there are some studies showed that mutations in mitochondrial DNA have been involve...

    Authors: Yuqi Liu, Yang Li, Jinliao Gao, Chao Zhu, Yunfeng Lan, Jie Yang, Zongbin Li, Minxin Guan and Yundai Chen
    Citation: BMC Medical Genetics 2014 15:84
  39. Cytochrome P450 (CYP) 2C19 is a very important drug metabolizing enzyme. Although the single nucleotide polymorphisms (SNPs) of CYP2C19 G681A and G636A have been suggested that they may increase the incidence ...

    Authors: Shuzhen Gu, Yan Sun, Ruifa Han, Lin Wang, Dongliang Wang, Jizuo Wang and Xin Li
    Citation: BMC Medical Genetics 2014 15:83
  40. Congenital forms of hearing impairment can be caused by mutations in the estrogen related receptor beta (ESRRB) gene. Our initial linkage studies suggested the ESRRB locus is linked to high caries experience in h...

    Authors: Megan L Weber, Hong-Yuan Hsin, Ersan Kalay, Dana Š Brožková, Takehiko Shimizu, Merve Bayram, Kathleen Deeley, Erika C Küchler, Jessalyn Forella, Timothy D Ruff, Vanessa M Trombetta, Regina C Sencak, Michael Hummel, Jessica Briseño-Ruiz, Shankar K Revu, José M Granjeiro…
    Citation: BMC Medical Genetics 2014 15:81
  41. Extracellular ATP is a pro-inflammatory molecule released by damaged cells. Regulatory T cells (Treg) can suppress inflammation by hydrolysing this molecule via ectonucleoside triphosphate diphosphohydrolase 1...

    Authors: Rossella Melchiotti, Kia Joo Puan, Anand Kumar Andiappan, Tuang Yeow Poh, Mireille Starke, Li Zhuang, Kerstin Petsch, Tuck Siong Lai, Fook Tim Chew, Anis Larbi, De Yun Wang, Michael Poidinger and Olaf Rotzschke
    Citation: BMC Medical Genetics 2014 15:73
  42. Studies suggest that the 9p21-3 locus may influence susceptibility to myocardial infarction. We performed a systematic review and meta-analysis to assess whether this locus is associated with severity of coron...

    Authors: Muhammad S Munir, Zhen Wang, Fares Alahdab, Mark W Steffen, Patricia J Erwin, Iftikhar J Kullo and Mohammad Hassan Murad
    Citation: BMC Medical Genetics 2014 15:66
  43. Genome-wide association studies have identified many genetic loci associated with blood pressure (BP). Genetic effects on BP can be altered by environmental exposures via multiple biological pathways. Especial...

    Authors: Yun Kyoung Kim, Youngdoe Kim, Mi Yeong Hwang, Kazuro Shimokawa, Sungho Won, Norihiro Kato, Yasuharu Tabara, Mitsuhiro Yokota, Bok-Ghee Han, Jong Ho Lee and Bong-Jo Kim
    Citation: BMC Medical Genetics 2014 15:65
  44. Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain ...

    Authors: Xiaonan Du, Yu An, Lifei Yu, Renchao Liu, Yanrong Qin, Xiaohong Guo, Daokan Sun, Shuizhen Zhou, Bailin Wu, Yong-hui Jiang and Yi Wang
    Citation: BMC Medical Genetics 2014 15:62
  45. Epidemiological studies have evaluated the association between Apolipoprotein E (APOE) gene ε2/ε3/ε4 polymorphism and glaucoma susceptibility. However, the published data are still inconclusive. The aim of the pr...

    Authors: Yong Wang, Yan-Feng Zhou, Bing-Ying Zhao, Zheng-Yu Gu and Shou-Ling Li
    Citation: BMC Medical Genetics 2014 15:60
  46. Dengue shock syndrome (DSS), a severe life-threatening form of dengue infection, mostly occurs in children. A recent genome wide association study (GWAS) identified two SNPs, rs3132468 of major histocompatibil...

    Authors: Tran Ngoc Dang, Izumi Naka, Areerat Sa-Ngasang, Surapee Anantapreecha, Sumalee Chanama, Nuanjun Wichukchinda, Pathom Sawanpanyalert, Jintana Patarapotikul, Naoyuki Tsuchiya and Jun Ohashi
    Citation: BMC Medical Genetics 2014 15:58
  47. Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia, however, the oral phenotype has been described in a limited number of cases. The aim of the present study was to clinically describe individuals...

    Authors: Catarina Falk Kieri, Birgitta Bergendal, Lisbet K Lind, Marcus Schmitt-Egenolf and Christina Stecksén-Blicks
    Citation: BMC Medical Genetics 2014 15:57
  48. Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized by chronic destructive inflammation in synovial joints. It is well known that genetic and environmental risk factors and their interacti...

    Authors: Xingang Zhang, Wei Li, Xinpeng Zhang, Liang Zhao, Xiaoli Zhang, Li Jiang, Yun Guo, Jin Zhang, Zaifu Liang and Xiaofei Wang
    Citation: BMC Medical Genetics 2014 15:56