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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. Metabolic syndrome is a cluster of factors associated with an increased risk of developing type 2 diabetes mellitus (T2D) and coronary artery disease (CAD). It is a complex disorder resulting from the interact...

    Authors: Monique Tremblay, Diane Brisson and Daniel Gaudet

    Citation: BMC Medical Genetics 2018 19:130

    Content type: Research article

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  2. To provide a synopsis of the current understanding of the association between variants of HNF1B and cancer susceptibility, we conducted a comprehensive research synopsis and meta-analysis to evaluate associations...

    Authors: Yu Tong, Yi Qu, Shiping Li, Fengyan Zhao, Yibin Wang and Dezhi Mu

    Citation: BMC Medical Genetics 2018 19:128

    Content type: Research article

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  3. Hypertension is a multifactorial disease involving both environmental and genetic Factros. G894 T eNOS polymorphism has been suggested to be responsible for reduced NO synthesis, and EH development. The objective...

    Authors: Sanaa Nassereddine, Hind Hassani Idrissi, Rachida Habbal, Rhizlane Abouelfath, Farah Korch, Majda Haraka, Adnane Karkar and Sellama Nadifi

    Citation: BMC Medical Genetics 2018 19:127

    Content type: Research article

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  4. Catechol-O-methyltransferase (COMT Val158Met) has been implicated in both depression and cardiovascular disease. The purpose of this study was to assess if COMT Val158Met, which influences the COMT enzyme activit...

    Authors: Aysha Almas, Yvonne Forsell, Vincent Millischer, Jette Möller and Catharina Lavebratt

    Citation: BMC Medical Genetics 2018 19:126

    Content type: Research article

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  5. Tendinopathy pathogenesis is associated with inflammation. Regulatory T (Treg) cells contribute to early tissue repair through an anti-inflammatory action, with the forkhead box P3 (FOXP3) transcription factor...

    Authors: José Inácio Salles, Lucas Rafael Lopes, Maria Eugenia Leite Duarte, Dylan Morrissey, Marilena Bezerra Martins, Daniel Escorsim Machado, João Antonio Matheus Guimarães and Jamila Alessandra Perini

    Citation: BMC Medical Genetics 2018 19:119

    Content type: Research article

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  6. Hirschsprung disease (HSCR, aganglionic megacolon) is the most frequent genetic cause of congenital intestinal obstruction. DSCAM was identified as associated to HSCR with Down Syndrome (DS-HSCR) in European popu...

    Authors: Yong Wang, Qiuming He, Ruizhong Zhang, Wei Zhong, Deli Zhu, Yan Zhang and Huimin Xia

    Citation: BMC Medical Genetics 2018 19:116

    Content type: Research article

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  7. Premature ovarian failure / primary ovarian insufficiency (POF/POI) associated with the mutations of the FMR1 (Fragile-X Mental Retardation 1) gene belongs to the group of the so-called trinucleotide expansion...

    Authors: Artur Beke, Henriett Piko, Iren Haltrich, Veronika Karcagi, Janos Rigo Jr., Maria Judit Molnar and György Fekete

    Citation: BMC Medical Genetics 2018 19:113

    Content type: Research article

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  8. Cisplatin is one of the major drugs that used in the treatment of osteosarcoma. Cisplatin exerts its function by making cisplatin-DNA adducts culminating in cellular death. These adducts found to be repaired b...

    Authors: Hadeel Obiedat, Nasr Alrabadi, Eyad Sultan, Marwa Al Shatti and Malek Zihlif

    Citation: BMC Medical Genetics 2018 19:112

    Content type: Research article

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  9. Reduced nocturnal fall (non-dipping) of blood pressure (BP) is a predictor of cardiovascular target organ damage. No genome-wide association studies (GWAS) on BP dipping have been previously reported.

    Authors: Jenni M. Rimpelä, Ilkka H. Pörsti, Antti Jula, Terho Lehtimäki, Teemu J. Niiranen, Lasse Oikarinen, Kimmo Porthan, Antti Tikkakoski, Juha Virolainen, Kimmo K. Kontula and Timo P. Hiltunen

    Citation: BMC Medical Genetics 2018 19:110

    Content type: Research Article

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  10. Single nucleotide polymorphisms (SNPs) located in the vascular endothelial growth factor (VEGF) gene may be correlated with the susceptibility to coronary artery disease (CAD) – although results have been cont...

    Authors: Wen-Qi Ma, Ying Wang, Xi-Qiong Han, Yi Zhu and Nai-Feng Liu

    Citation: BMC Medical Genetics 2018 19:108

    Content type: Research article

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  11. Association of GSTM1- and GSTT1-null genotypes, GSTP1 A/G gene polymorphism with renal cell carcinoma (RCC) susceptibility was detected, and the relationship between the GSTM1/GSTT1-null genotype and clinical TNM...

    Authors: Zhiqing Zhong, Hongyan Li, Hongzhen Zhong, Tianbiao Zhou, Weiji Xie and Zhijun Lin

    Citation: BMC Medical Genetics 2018 19:98

    Content type: Research article

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  12. Genome-wide association studies (GWAS) have identified a variant (rs9349379) at the phosphatase and actin regulator 1 (PHACTR1) locus that is associated with coronary artery disease (CAD). The same variant is als...

    Authors: Valérie-Anne Codina-Fauteux, Mélissa Beaudoin, Simon Lalonde, Ken Sin Lo and Guillaume Lettre

    Citation: BMC Medical Genetics 2018 19:97

    Content type: Research article

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  13. Gout is a common disease resulting from hyperuricemia which causes acute arthritis. A recent genome-wide association study (GWAS) of gout identified three new loci for gout in Han Chinese: regulatory factor X3 (R...

    Authors: Masayuki Sakiyama, Hirotaka Matsuo, Hirofumi Nakaoka, Yusuke Kawamura, Makoto Kawaguchi, Toshihide Higashino, Akiyoshi Nakayama, Airi Akashi, Jun Ueyama, Takaaki Kondo, Kenji Wakai, Yutaka Sakurai, Ken Yamamoto, Hiroshi Ooyama and Nariyoshi Shinomiya

    Citation: BMC Medical Genetics 2018 19:96

    Content type: Research article

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  14. Mutations of the SCN5A gene are reported in 2-4% of patients with dilated cardiomyopathy (DCM). In such cases, DCM is associated with different rhythm disturbances such as the multifocal ectopic Purkinje-related ...

    Authors: Joanna Zakrzewska-Koperska, Maria Franaszczyk, Zofia Bilińska, Grażyna Truszkowska, Małgorzata Karczmarz, Łukasz Szumowski, Tomasz Zieliński, Rafał Płoski and Maria Bilińska

    Citation: BMC Medical Genetics 2018 19:94

    Content type: Case report

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  15. Several type 2 diabetes (T2D) susceptibility loci identified via genome-wide association studies were found to be replicated among various populations. However, the influence of these loci on T2D in Thai popul...

    Authors: Nattachet Plengvidhya, Chutima Chanprasert, Nalinee Chongjaroen, Pa-thai Yenchitsomanus, Mayuree Homsanit and Watip Tangjittipokin

    Citation: BMC Medical Genetics 2018 19:93

    Content type: Research article

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  16. Precocious puberty (PP) is defined as premature pubertal development. Its consequences surpass the physical evidence of sexual maturity with the premature epiphyseal closure of the long bones and the reduction...

    Authors: José Maria Soares-Jr, Felisbela Soares de Holanda, Cézar Noboru Matsuzaki, Isabel Cristina Esposito Sorpreso, Eduardo Carvalho de Arruda Veiga, Luiz Carlos de Abreu, Kátia Cândido Carvalho and Edmund Chada Baracat

    Citation: BMC Medical Genetics 2018 19:84

    Content type: Research article

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  17. The association between ABCC8 gene C49620T polymorphism and type 2 diabetes (T2D) in populations of diverse ethnic backgrounds has been reported. However, such occurrence in an African population is yet to be est...

    Authors: Godwill Azeh Engwa, Friday Nweke Nwalo, Claribel Chidimma Chikezie, Christie Oby Onyia, Opeolu Oyejide Ojo, Wilfred Fon Mbacham and Benjamin Ewa Ubi

    Citation: BMC Medical Genetics 2018 19:78

    Content type: Research article

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  18. Diabetic macular edema (DME) and proliferative diabetic retinopathy (PDR) are sight-threatening complications of diabetes mellitus and leading causes of adult-onset blindness worldwide. Genetic risk factors fo...

    Authors: Patricia S. Graham, Georgia Kaidonis, Sotoodeh Abhary, Mark C. Gillies, Mark Daniell, Rohan W. Essex, John H. Chang, Stewart R. Lake, Bishwanath Pal, Alicia J. Jenkins, Alex W. Hewitt, Ecosse L. Lamoureux, Philip G. Hykin, Nikolai Petrovsky, Matthew A. Brown, Jamie E. Craig…

    Citation: BMC Medical Genetics 2018 19:71

    Content type: Research article

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  19. Several genome-wide association studies (GWAS) for serum fasting glucose levels have reported HHEX as possibly causal. The objective of this study was to examine the joint effect of smoking on the association ...

    Authors: Jae Woong Sull, Tae Yong Lee and Sun Ha Jee

    Citation: BMC Medical Genetics 2018 19:68

    Content type: Research article

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  20. Genetic variations in key DNA repair genes may influence DNA repair capacity, DNA damage and breast carcinogenesis. The current study aimed to estimate the association of APEX1 and OGG1 polymorphisms with the ris...

    Authors: Tao Wang, Haitao Wang, Suisheng Yang, Hongyun Guo, Binming Zhang, Huan Guo, Lan Wang, Gongjian Zhu, Yongdong Zhang, Haihong Zhou, Xiuli Zhang, Haining Li and Haixiang Su

    Citation: BMC Medical Genetics 2018 19:67

    Content type: Research article

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  21. Dopamine is involved in several cerebral physiological processes, and single nucleotide polymorphisms (SNP) in the dopamine D2 receptor gene (DRD2) have been associated with numerous neurological and mental disor...

    Authors: Osmar Henrique Della Torre, Lúcia Arisaka Paes, Taciane Barbosa Henriques, Maricilda Palandi de Mello, Eloisa Helena Rubello Valler Celeri, Paulo Dalgalarrondo, Gil Guerra-Júnior and Amilton dos Santos-Júnior

    Citation: BMC Medical Genetics 2018 19:65

    Content type: Research article

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  22. Research suggests there may be a genetic influence on the likelihood of becoming tanning dependent (TD). The way in which mothers regulate their children’s sun exposure may be affected by being TD. We investig...

    Authors: Jasmine Khouja, Sarah J. Lewis and Carolina Bonilla

    Citation: BMC Medical Genetics 2018 19:62

    Content type: Research article

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  23. The identification of variants in the nicotinic acetylcholine receptor (nAChR) subunit genes associated with smoking phenotypes are increasingly important for prevention and treatment of nicotine dependence. I...

    Authors: Paulo Roberto Xavier Tomaz, Juliana Rocha Santos, Jaqueline Scholz, Tânia Ogawa Abe, Patrícia Viviane Gaya, André Brooking Negrão, José Eduardo Krieger, Alexandre Costa Pereira and Paulo Caleb Júnior Lima Santos

    Citation: BMC Medical Genetics 2018 19:55

    Content type: Research article

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  24. Signal transducer and activator of transcription 3 (STAT3) is involved in hepatitis B virus (HBV) infection and HBV-related hepatocellular carcinoma (HCC). The association between polymorphism rs1053005 and ha...

    Authors: Man Li, Fang Li, Na Li, Jiao Sang, Xiude Fan, Huan Deng, Xiaoge Zhang, Qunying Han, Yi Lv and Zhengwen Liu

    Citation: BMC Medical Genetics 2018 19:52

    Content type: Research article

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  25. The contribution of moderate coagulation factor XII (FXII) deficiency to development of thromboembolism is still undetermined. We have tried to show the relevance of FXII deficiency to incidences of venous thr...

    Authors: Xi Wu, Qiulan Ding, Xuefeng Wang, Jing Dai and Wenman Wu

    Citation: BMC Medical Genetics 2018 19:50

    Content type: Research article

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  26. Preeclampsia and gestational hypertensive disorders are thought to occur due to endothelial cell dysfunction and abnormal placentation, triggered by angiogenesis-related factors yet undetermined. The aim of th...

    Authors: Evangelia Elenis, Alkistis Skalkidou, Agneta Skoog-Svanberg, Gunilla Sydsjö, Anneli Stavreus-Evers and Helena Åkerud

    Citation: BMC Medical Genetics 2018 19:44

    Content type: Research article

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  27. There are disparities for the association between uncoupling proteins (UCP) and type 2 diabetes (T2DM). The study was to examine the associations of genetic variants of UCP2 and UCP3 with prediabetes and T2DM ...

    Authors: Meifang Su, Xiaoying Chen, Yue Chen, Congyun Wang, Songtao Li, Xuhua Ying, Tian Xiao, Na Wang, Qingwu Jiang and Chaowei Fu

    Citation: BMC Medical Genetics 2018 19:43

    Content type: Research article

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  28. In this study we investigated the association between SNPs in the S100B gene and Parkinson’s disease (PD) in two independent Swedish cohorts. The SNP rs9722 has previously been shown to be associated with high...

    Authors: Camilla Fardell, Anna Zettergren, Caroline Ran, Andrea Carmine Belin, Agneta Ekman, Olof Sydow, Lars Bäckman, Björn Holmberg, Nil Dizdar, Peter Söderkvist and Hans Nissbrandt

    Citation: BMC Medical Genetics 2018 19:42

    Content type: Research article

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  29. Takotsubo cardiomyopathy (TCM), also known as “broken heart syndrome”, is a type of heart failure characterized by transient ventricular dysfunction in the absence of obstructive coronary lesions. Although ass...

    Authors: Emma Mattsson, Peter Saliba-Gustafsson, Ewa Ehrenborg and Per Tornvall

    Citation: BMC Medical Genetics 2018 19:39

    Content type: Research article

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  30. Large scale association studies have found a significant association between type 2 diabetes mellitus (T2DM) and transcription factor 7-like 2 (TCF7L2) polymorphism rs7903146. However, the quality of data vari...

    Authors: Weiyue Ding, Li Xu, Lejun Zhang, Zhijie Han, Qinghua Jiang, Zhe Wang and Shuilin Jin

    Citation: BMC Medical Genetics 2018 19:38

    Content type: Research article

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  31. Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50–60% and 8%, res...

    Authors: María López, Alberto García-Oguiza, Judith Armstrong, Inmaculada García-Cobaleda, Sixto García-Miñaur, Fernando Santos-Simarro, Verónica Seidel and Elena Domínguez-Garrido

    Citation: BMC Medical Genetics 2018 19:36

    Content type: Research article

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  32. Despite the important role of the nerve growth factor in the survival and maintenance of neurons in ischemic stroke, data regarding the relationships between variations in the encoding gene and stroke are lack...

    Authors: Ani Stepanyan, Roksana Zakharyan, Arsen Simonyan, Gohar Tsakanova and Arsen Arakelyan

    Citation: BMC Medical Genetics 2018 19:33

    Content type: Research article

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  33. MYO15A variants, except those in the N-terminal domain, have been shown to be associated with congenital or pre-lingual severe-to-profound hearing loss (DFNB3), which ultimately requires cochlear implantation in ...

    Authors: Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh and Byung Yoon Choi

    Citation: BMC Medical Genetics 2018 19:29

    Content type: Research article

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  34. Rheumatic heart disease (RHD) is an autoimmune disease triggered by acute rheumatic fever (ARF). Matrix metalloproteinases (MMPs) play an important role in the modulation of immune responses. The purpose of this ...

    Authors: Wei Hu, Yujia Ye, Yirui Yin, Peng Sang, Linhua Li, Jing Wang, Wen Wan, Rui Li, Xiangfeng Bai, Yuehui Xie and Zhaohui Meng

    Citation: BMC Medical Genetics 2018 19:27

    Content type: Research article

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  35. Brain-derived neurotrophic factor (BDNF) is one of the most abundant neurotrophins in the adult brain, and it plays important roles in modulating synaptic plasticity and synaptogenesis. This study attempted to...

    Authors: Yu-Jia Wang, Kai-Yun Chen, Li-Na Kuo, Wen-Chang Wang, Yu-Wen Hsu, Henry Sung-Ching Wong, Chien-Min Lin, Kuo-Hsing Liao, Yan-Feng Zhang, Yung-Hsiao Chiang and Wei-Chiao Chang

    Citation: BMC Medical Genetics 2018 19:13

    Content type: Research article

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  36. Obesity is a metabolic disease that is widely prevalent with approximately 600 million people classified as obese worldwide. Its etiology is multifactorial and involves a complex interplay between genes and th...

    Authors: Saad Mahmud Khan, Sarah El Hajj Chehadeh, Mehera Abdulrahman, Wael Osman and Habiba Al Safar

    Citation: BMC Medical Genetics 2018 19:11

    Content type: Research article

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  37. The genome-wide association study has founded hypertension-related single nucleotide polymorphism (SNP) rs11191548 near CYP17A1 encoding a key enzyme involved in steroid metabolism, but the molecular mechanisms a...

    Authors: Lijun Wu, Liwang Gao, Xiaoyuan Zhao, Meixian Zhang, Jianxin Wu and Jie Mi

    Citation: BMC Medical Genetics 2018 19:9

    Content type: Research article

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  38. Noise-induced hearing loss (NIHL) is a complex, irreversible disease caused by the interaction of genetic and environmental factors. In recent years, a great many studies have been done to explore the NIHL sus...

    Authors: Peipei Yu, Jie Jiao, Guoshun Chen, Wenhui Zhou, Huanling Zhang, Hui Wu, Yanhong Li, Guizhen Gu, Yuxin Zheng, Yue Yu and Shanfa Yu

    Citation: BMC Medical Genetics 2018 19:4

    Content type: Research article

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  39. HLA antigens have been widely studied for their role in transplantation biology, human diseases and population diversity. The aim of this study was to provide the first profile of HLA class I and class II alle...

    Authors: Cheikh Tijani Hamed, Ghlana Meiloud, Fatimetou Veten, Mouna Hadrami, Sidi M. Ghaber, Ely C. Boussaty, Norddine Habti and Ahmed Houmeida

    Citation: BMC Medical Genetics 2018 19:2

    Content type: Research article

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  40. Although statins deteriorate glucose metabolism, their glucose-lowering effects have emerged in some situations. Here, we assessed whether these effects are a consequence of statins’ interaction with paraoxona...

    Authors: Akiko Sumi, Udai Nakamura, Masanori Iwase, Hiroki Fujii, Toshiaki Ohkuma, Hitoshi Ide, Tamaki Jodai-Kitamura, Yuji Komorita, Masahito Yoshinari, Yoichiro Hirakawa, Atsushi Hirano, Michiaki Kubo and Takanari Kitazono

    Citation: BMC Medical Genetics 2017 18:146

    Content type: Research article

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  41. Thyroid cancer is a common malignant disease of the endocrine system with increasing incidence rates over the last few decades. In this study, we sought to analyze the possible association of 45 single nucleot...

    Authors: Isabelle C. C. dos Santos, Julieta Genre, Diego Marques, Ananília M. G. da Silva, Jéssica C. dos Santos, Jéssica N. G. de Araújo, Victor H. R. Duarte, Angel Carracedo, Maria Torres-Español, Gisele Bastos, Carlos C. de Oliveira Ramos, André D. Luchessi and Vivian N. Silbiger

    Citation: BMC Medical Genetics 2017 18:140

    Content type: Research article

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  42. It is now well-known that some antimalarials such as primaquine may induce severe hemolytic anemia in people with G-6-PD deficiency. Antimalarial drug prescriptions must, therefore take into account the patien...

    Authors: Abdoul Karim Ouattara, Pouiré Yameogo, Lassina Traore, Birama Diarra, Maléki Assih, Tegwindé Rébéca Compaore, Dorcas Obiri-yeboah, Serge Théophile Soubeiga, Florencia Wendkuuni Djigma and Jacques Simpore

    Citation: BMC Medical Genetics 2017 18:139

    Content type: Research article

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  43. Cohort studies have revealed an increased risk for ventricular fibrillation (VF) and sudden cardiac death (SCD) in patients with atrial fibrillation (AF). In this study, we hypothesized that single nucleotide ...

    Authors: Reza Jabbari, Javad Jabbari, Charlotte Glinge, Bjarke Risgaard, Stefan Sattler, Bo Gregers Winkel, Christian Juhl Terkelsen, Hans-Henrik Tilsted, Lisette Okkels Jensen, Mikkel Hougaard, Stig Haunsø, Thomas Engstrøm, Christine M. Albert and Jacob Tfelt-Hansen

    Citation: BMC Medical Genetics 2017 18:138

    Content type: Research article

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  44. Asthma and allergic rhinitis are respiratory diseases with a significant global burden. Forkhead box O3 (FOXO3) is a gene involved in the etiology of a number of respiratory diseases. The objective of this study ...

    Authors: Justin Z. Amarin, Randa G. Naffa, Haya H. Suradi, Yousof M. Alsaket, Nathir M. Obeidat, Tareq M. Mahafza and Malek A. Zihlif

    Citation: BMC Medical Genetics 2017 18:132

    Content type: Research article

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  45. Essential hypertension (EH) is influenced by various environmental and genetic factors. Nitric oxide is important for the functional integrity of the vascular endothelium and is produced in endothelial cells b...

    Authors: Sahar Gamil, Jeanette Erdmann, Ihab B. Abdalrahman and Abdelrahim O. Mohamed

    Citation: BMC Medical Genetics 2017 18:128

    Content type: Research article

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  46. Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of HME by u...

    Authors: Yuchan Li, Jian Wang, Zhigang Wang, Jingyan Tang and Tingting Yu

    Citation: BMC Medical Genetics 2017 18:126

    Content type: Research article

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  47. Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not re...

    Authors: Paulo Breno Noronha Liberalesso, Mara L. Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin and Michael Rauchman

    Citation: BMC Medical Genetics 2017 18:125

    Content type: Case report

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