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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. Content type: Research article

    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

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  2. Content type: Research article

    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

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  3. Content type: Research article

    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

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  4. Content type: Research article

    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

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  5. Content type: Research article

    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

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  6. Content type: Research Article

    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

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  7. Content type: Research article

    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

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  8. Content type: Research article

    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

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  9. Content type: Research article

    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

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  10. Content type: Research article

    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

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  11. Content type: Case report

    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

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  12. Content type: Research article

    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

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  13. Content type: Research article

    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

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  14. Content type: Research article

    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

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  15. Content type: Research article

    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

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  16. Content type: Research article

    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

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  17. Content type: Research article

    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

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  18. Content type: Research article

    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

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