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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. 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 Published on:

  2. 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 Published on:

  3. 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 Published on:

  4. 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 Published on:

  5. 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 Published on:

  6. 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 Published on:

  7. 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 Published on:

  8. 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 Published on:

  9. 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 Published on:

  10. 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 Published on:

  11. 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 Published on:

  12. 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 Published on:

  13. 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 Published on:

  14. 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 Published on:

  15. 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 Published on:

  17. 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 Published on:

  18. 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 Published on:

  19. 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 Published on:

  20. 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 Published on:

  21. 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 Published on:

  22. 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 Published on:

  23. 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 Published on:

  24. 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 Published on:

  25. 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 Published on:

  26. 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 Published on:

  27. 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 Published on:

  28. 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 Published on:

  29. 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 Published on:

  30. 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 Published on:

  31. 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 Published on:

  32. Many published studies have estimated the association between the +331G/A (rs10895068) polymorphism in the progesterone receptor (PgR) gene and breast cancer risk. However, the results remain inconsistent and ...

    Authors: Xing-ling Qi, Jun Yao and Yong Zhang
    Citation: BMC Medical Genetics 2017 18:123
    Content type: Research article Published on:

  33. The objective of our investigation is to study the relationship between the rs4939827 SNP in the SMAD7 gene, Mediterranean diet pattern and the risk of colorectal cancer.

    Authors: Jéssica Alonso-Molero, Carmen González-Donquiles, Camilo Palazuelos, Tania Fernández-Villa, Elena Ramos, Marina Pollán, Nuria Aragonés, Javier Llorca, M. Henar Alonso, Adonina Tardón, Pilar Amiano, José Juan Jiménez Moleon, Rosana Peiró Pérez, Rocío Capelo, Antonio J. Molina, Inés Gómez Acebo…
    Citation: BMC Medical Genetics 2017 18:122
    Content type: Research article Published on:

  34. Studies have sought associations of the opioid receptor mu 1 (OPRM1) A118G polymorphism (rs1799971) with alcohol-dependence, but findings are inconsistent. We summarize the information as to associations of rs...

    Authors: Xiangyi Kong, Hao Deng, Shun Gong, Theodore Alston, Yanguo Kong and Jingping Wang
    Citation: BMC Medical Genetics 2017 18:120
    Content type: Research article Published on:

  35. Telomeres are repetitive DNA sequences located at the ends of chromosomes, and telomere length represents a biological marker for cellular aging. Interpersonal sensitivity, excessive sensitivity to the behavio...

    Authors: Akihito Suzuki, Yoshihiko Matsumoto, Masanori Enokido, Toshinori Shirata, Kaoru Goto and Koichi Otani
    Citation: BMC Medical Genetics 2017 18:112
    Content type: Research article Published on:

  36. Down’s syndrome (DS) affects one per 700 live births and congenital heart disease (CHD) occurs in 40–60% of these patients. Contributing factors to the association between DS and CHD are being unraveled. Gende...

    Authors: Tereza Cristina Pinheiro Diogenes, Felipe Alves Mourato, José Luiz de Lima Filho and Sandra da Silva Mattos
    Citation: BMC Medical Genetics 2017 18:111
    Content type: Research article Published on:

  37. Attention deficit hyperactivity disorder (ADHD) is an etiologically complex childhood onset neurobehavioral disorder characterized by age-inappropriate inattention, hyperactivity, and impulsivity. Symptom seve...

    Authors: Arijit Karmakar, Rishov Goswami, Tanusree Saha, Subhamita Maitra, Anirban Roychowdhury, Chinmay Kumar Panda, Swagata Sinha, Anirban Ray, Kochupurackal P. Mohanakumar, Usha Rajamma and Kanchan Mukhopadhyay
    Citation: BMC Medical Genetics 2017 18:109
    Content type: Research article Published on:

  38. Osteoporosis individual susceptibility is determined by the interaction of multiple genetic variants and environmental factors. The aim of this study was to conduct SNP-SNP interaction analyses in candidate ge...

    Authors: María Correa-Rodríguez, Sebastien Viatte, Jonathan Massey, Jacqueline Schmidt-RioValle, Blanca Rueda-Medina and Gisela Orozco
    Citation: BMC Medical Genetics 2017 18:107
    Content type: Research article Published on:

  39. Variations within fat mass and obesity associated (FTO) gene had crosstalk with obesity risk in European and some Asian populations. This study was designed to investigate FTO rs9939609 association with metabolic...

    Authors: Mina S. Khella, Nadia M. Hamdy, Ashraf I. Amin and Hala O. El-Mesallamy
    Citation: BMC Medical Genetics 2017 18:101
    Content type: Research article Published on:

  40. Epidemiological studies have demonstrated the influence of environmental factors on HBP in the population of Lithuanian children, although the role of genetic factors in hypertension has not yet been studied. ...

    Authors: Sandrita Simonyte, Renata Kuciene, Jurate Medzioniene, Virginija Dulskiene and Vaiva Lesauskaite
    Citation: BMC Medical Genetics 2017 18:100
    Content type: Research article Published on:

  41. Chromosomal disorders in non obstructive azoospermia (NOA) may have an important influence on spermatogenesis, which may be reflected by the serum inhibin B levels. Till now, few studies have concerned the rel...

    Authors: Qing-jun Chu, Rui Hua, Chen Luo, Qing-jie Chen, Biao Wu, Song Quan and Yong-tong Zhu
    Citation: BMC Medical Genetics 2017 18:98
    Content type: Research article Published on:

  43. A large amount of researches have demonstrated that vitamin D receptor (VDR) gene polymorphisms are associated with diabetic nephropathy (DN) risk in diabetes mellitus (DM) patients. Nevertheless, the results ...

    Authors: Lina Yang, Lan Wu, Yi Fan and Jianfei Ma
    Citation: BMC Medical Genetics 2017 18:95
    Content type: Research article Published on:

  44. Predicting risk of disease from genotypes is being increasingly proposed for a variety of diagnostic and prognostic purposes. Genome-wide association studies (GWAS) have identified a large number of genome-wid...

    Authors: Guo-Bo Chen, Sang Hong Lee, Grant W. Montgomery, Naomi R. Wray, Peter M. Visscher, Richard B. Gearry, Ian C. Lawrance, Jane M. Andrews, Peter Bampton, Gillian Mahy, Sally Bell, Alissa Walsh, Susan Connor, Miles Sparrow, Lisa M. Bowdler, Lisa A. Simms…
    Citation: BMC Medical Genetics 2017 18:94
    Content type: Research article Published on:

  45. Psoriatic Arthritis (PsA) is a chronic inflammatory disease of the joints. PsA is etiologically complex, and 11 susceptibility loci have been identified so far. Most of these overlap with loci associated with ...

    Authors: Steffen Uebe, Maria Ehrlicher, Arif Bülent Ekici, Frank Behrens, Beate Böhm, Georg Homuth, Claudia Schurmann, Uwe Völker, Michael Jünger, Matthias Nauck, Henry Völzke, Heiko Traupe, Michael Krawczak, Harald Burkhardt, André Reis and Ulrike Hüffmeier
    Citation: BMC Medical Genetics 2017 18:92
    Content type: Research article Published on:

  46. There is an increasing body of evidence suggesting that vitamin D is involved in ethiopathogenesis of obesity and therefore the aim of the study was to investigate whether 5 selected SNPs in VDR (vitamin D rec...

    Authors: Julie Bienertová-Vašků, Filip Zlámal, Aneta Pohořalá, Ondřej Mikeš, Monika Goldbergová-Pávková, Jan Novák, Zbyněk Šplíchal and Hynek Pikhart
    Citation: BMC Medical Genetics 2017 18:90
    Content type: Research article Published on:

  47. Up to now, numerous case-control studies have reported the associations between fat mass and obesity associated (FTO) gene rs9939609 A/T polymorphism and polycystic ovary syndrome (PCOS), however, without a co...

    Authors: Ai Ling Liu, Hui Jun Xie, Hong Yan Xie, Jun Liu, Jie Yin, Jin Song Hu and Cui Ying Peng
    Citation: BMC Medical Genetics 2017 18:89
    Content type: Research article Published on:

  48. Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5–10% of cases. The majority of deleterious mutations ar...

    Authors: Alsmawal A. Elimam, Mohamed Elmogtba Mouaweia Mohamed Aabdein, Mohamed El-Fatih Moly Eldeen, Hisham N. Altayb, Mohamed Adel Taha, Mohammed N. Nimir, Mohamed D. Dafaalla, Musaab M. Alfaki, Mohamed A. Abdelrahim, Abdelmohaymin A. Abdalla, Musab I. Mohammed, Mona Ellaithi, Muzamil Mahdi Abdel Hamid and Mohamed Ahmed Salih Hassan
    Citation: BMC Medical Genetics 2017 18:85
    Content type: Research article Published on:

  49. Recent evidence indicates that ataxia telangiectasia mutated (ATM) is a cytoplasmic protein that involves in insulin signaling pathways. When ATM gene is mutated, this event appears to contribute to the develo...

    Authors: Xiang Ding, Qiukui Hao, Ming Yang, Tie Chen, Shanping Chen, Jirong Yue, Sean X. Leng and Birong Dong
    Citation: BMC Medical Genetics 2017 18:84
    Content type: Research article Published on:

  50. Male infertility is a complex disorder caused by genetic, developmental, endocrine, or environmental factors as well as unknown etiology. Polymorphisms in the follicle stimulating hormone beta subunit (FSHB) (rs1...

    Authors: Qiuyue Wu, Jing Zhang, Peiran Zhu, Weijun Jiang, Shuaimei Liu, Mengxia Ni, Mingchao Zhang, Weiwei Li, Qing Zhou, Yingxia Cui and Xinyi Xia
    Citation: BMC Medical Genetics 2017 18:81
    Content type: Research article Published on:

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