Skip to main content

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.

Page 4 of 12

  1. The interactive effect of the IGF pathway genes with the environment may contribute to childhood obesity. Such gene-environment interactions can take on complex forms. Detecting those relationships using longi...

    Authors: Cheng Wang, Marie-Hélène Roy-Gagnon, Jean-François Lefebvre, Kelly M. Burkett and Lise Dubois
    Citation: BMC Medical Genetics 2019 20:9
    Content type: Research article Published on:

  3. Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the association of preeclampsia with thrombophilia in Africa including Sudan.

    Authors: Nadir A. Ahmed, Ishag Adam, Salah Eldin G. Elzaki, Hiba A. Awooda and Hamdan Z. Hamdan
    Citation: BMC Medical Genetics 2019 20:2
    Content type: Research article Published on:

  4. The incidence of RC tears increases with aging, affecting approximately 30 to 50% of individuals older than 50 years, and more than 50% of individuals older than 80 years. Intrinsic factors (age or gender), ex...

    Authors: Umile Giuseppe Longo, Katia Margiotti, Stefano Petrillo, Giacomo Rizzello, Caterina Fusilli, Nicola Maffulli, Alessandro De Luca and Vincenzo Denaro
    Citation: BMC Medical Genetics 2018 19:217
    Content type: Research article Published on:

  5. The aim of this study was to investigate the occupational stress and hypertension in desert petroleum workers in Xinjiang, and to analyze the association of occupational stress and glucocorticoid receptor (GR)...

    Authors: Ning Tao, Hua Ge, Wenfeng Wu, Hengqing An, Jiwen Liu and Xinjuan Xu
    Citation: BMC Medical Genetics 2018 19:213
    Content type: Research article Published on:

  6. The genetics of fetal insulin release and/or action have been suggested to affect fetal growth, adult insulin resistance and adult body composition. The genetic correlation between body composition at birth ve...

    Authors: Mette Hollensted, Claus T. Ekstrøm, Oluf Pedersen, Hans Eiberg, Torben Hansen and Anette Prior Gjesing
    Citation: BMC Medical Genetics 2018 19:207
    Content type: Research article Published on:

  7. The objective of this study was to examine individual and community factors that influence high-density lipoprotein cholesterol (HDL-C) dyslipidemia in Newfoundland and Labrador (NL), a genetically isolated po...

    Authors: Erfan Aref-Eshghi, Oliver Hurley, Guang Sun, Alvin Simms, Marshall Godwin, Pauline Duke, Mehdee Araee, Masoud Mahdavian and Shabnam Asghari
    Citation: BMC Medical Genetics 2018 19:205
    Content type: Research article Published on:

  8. Obesity is one of the main causes of morbidity and mortality worldwide. More than 120 genes have been shown to be associated with obesity related phenotypes. The aim of this study was to determine the effect o...

    Authors: Shahanas Chathoth, Mona H. Ismail, Chittibabu Vatte, Cyril Cyrus, Zhara Al Ali, Khandaker Ahtesham Ahmed, Sadananda Acharya, Aisha Mohammed Al Barqi and Amein Al Ali
    Citation: BMC Medical Genetics 2018 19:203
    Content type: Research article Published on:

  9. Diabetes mellitus (DM) is divided into four different etiological categories: type 1 DM (T1DM), type 2 DM (T2DM), other specific types, and gestational DM. One severe complication of T2DM is type 2 diabetic ne...

    Authors: Tianbiao Zhou, Hong-Yan Li, Hongzhen Zhong and Zhiqing Zhong
    Citation: BMC Medical Genetics 2018 19:201
    Content type: Research article Published on:

  10. Mutations in the genes encoding leptin (LEP), the leptin receptor (LEPR), and the melanocortin 4 receptor (MC4R) are known to cause severe early-onset childhood obesity. The aim of the current study was to examin...

    Authors: Robina Khan Niazi, Anette P Gjesing, Mette Hollensted, Christian Theil Have, Niels Grarup, Oluf Pedersen, Asmat Ullah, Gulbin Shahid, Wasim Ahmad, Asma Gul and Torben Hansen
    Citation: BMC Medical Genetics 2018 19:199
    Content type: Research article Published on:

  11. The energy homeostasis-associated gene (ENHO), retinoid X receptor alpha gene (RXRA), and liver X receptor alpha gene (LXRA) are involved in adipogenic/lipogenic regulation. We investigated whether single-nucleot...

    Authors: Alicja E. Grzegorzewska, Leszek Niepolski, Monika K. Świderska, Adrianna Mostowska, Ireneusz Stolarek, Wojciech Warchoł, Marek Figlerowicz and Paweł P. Jagodziński
    Citation: BMC Medical Genetics 2018 19:194
    Content type: Research article Published on:

  12. Currently, several studies have demonstrated that PRKAA1 polymorphisms conduce to the development of cancer. PRKAA1 gene encodes the AMP-activated protein kinase summit-α1, and plays an important role in cell met...

    Authors: Jialin Meng, Xinyao Fan, Meng Zhang, Zongyao Hao and Chaozhao Liang
    Citation: BMC Medical Genetics 2018 19:189
    Content type: Research article Published on:

  13. Individuals of African ethnicity are disproportionately burdened with chronic kidney disease (CKD). However, despite the genetic link, genetic association studies of CKD in African populations are lacking.

    Authors: Cindy George, Yandiswa Y Yako, Ikechi G Okpechi, Tandi E Matsha, Francois J. Kaze Folefack and Andre P Kengne
    Citation: BMC Medical Genetics 2018 19:187
    Content type: Research article Published on:

  14. Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases with other gene...

    Authors: Mari Wold Henriksen, Kirstine Ravn, Benedicte Paus, Stephen von Tetzchner and Ola H Skjeldal
    Citation: BMC Medical Genetics 2018 19:184
    Content type: Case report Published on:

  15. It has been reported that the single nucleotide polymorphism (SNP) rs2854744 at the − 202 locus of insulin-like growth factor binding protein-3 (IGFBP3) is associated with serum levels and a number of malignan...

    Authors: Ming Gao, Bin Zhu, Zhe Xu, Shujun Liu, Jiajia Liu, Guojun Zhang, Yang Gao, Yubo Fan and Xixiong Kang
    Citation: BMC Medical Genetics 2018 19:182
    Content type: Research article Published on:

  16. Preterm premature rupture of membranes (PPROM) is the leading identifiable cause of preterm birth, a complication that is more common in African Americans. Attempts to identify genetic loci associated with pre...

    Authors: Bhavi P. Modi, Hardik I. Parikh, Maria E. Teves, Rewa Kulkarni, Jiang Liyu, Roberto Romero, Timothy P. York and Jerome F. Strauss III
    Citation: BMC Medical Genetics 2018 19:181
    Content type: Technical advance Published on:

  17. The study investigated the associations of rs9340799:A > G (XbaI) and rs2234693:T > C (PvuII) polymorphisms in the estrogen receptor 1 gene (ESR1) with femoral neck (BMD-FN) and lumbar spine bone mineral density ...

    Authors: Vladimira Mondockova, Maria Adamkovicova, Martina Lukacova, Birgit Grosskopf, Ramona Babosova, Drahomir Galbavy, Monika Martiniakova and Radoslav Omelka
    Citation: BMC Medical Genetics 2018 19:174
    Content type: Research article Published on:

  18. Single-nucleotide polymorphism (SNP) haplotype and SNP-SNP interactions of CTLA-4 and CD40 genes, with susceptibility to Graves’ disease (GD), were explored in a Chinese Han population.

    Authors: Xiaoming Chen, Zhuoqing Hu, Meilian Liu, Huaqian Li, Chanbo Liang, Wei Li, Liwen Bao, Manyang Chen and Ge Wu
    Citation: BMC Medical Genetics 2018 19:171
    Content type: Research article Published on:

  19. Several studies have assessed the association between GDF5 rs143383 polymorphism and the susceptibility of musculoskeletal degenerative diseases, such as intervertebral disc degeneration (IDD) and osteoarthrit...

    Authors: Xin Huang, Weiyue Zhang and Zengwu Shao
    Citation: BMC Medical Genetics 2018 19:169
    Content type: Research article Published on:

  20. Noise induced hearing loss (NIHL) is a polygenic disease involving both genetic and environmental factors, and is one of the most important occupational health hazards worldwide. To date, the influence of Notc...

    Authors: Enmin Ding, Jing Liu, Huanxi Shen, Wei Gong, Hengdong Zhang, Haiyan Song and Baoli Zhu
    Citation: BMC Medical Genetics 2018 19:168
    Content type: Research article Published on:

  21. Nectins are cell adhesion molecules that play a pivotal role in adherens junctions and tight junctions. Our previous study using whole-genome oligonucleotide microarrays revealed that nectin-4 was upregulated ...

    Authors: Mayuko Ito, Haruki Nishizawa, Makiko Tsutsumi, Asuka Kato, Yoshiko Sakabe, Yoshiteru Noda, Akiko Ohwaki, Jun Miyazaki, Takema Kato, Kazuya Shiogama, Takao Sekiya, Hiroki Kurahashi and Takuma Fujii
    Citation: BMC Medical Genetics 2018 19:166
    Content type: Research article Published on:

  22. Ankylosing spondylitis (AS) results from the combined effects of susceptibility genes and environmental factors. Polymorphisms in genes regulating inflammation may explain part of the heritability of AS.

    Authors: Jacob Sode, Steffen Bank, Ulla Vogel, Paal Skytt Andersen, Signe Bek Sørensen, Anders Bo Bojesen, Malene Rohr Andersen, Ivan Brandslund, Ram Benny Dessau, Hans Jürgen Hoffmann, Bente Glintborg, Merete Lund Hetland, Henning Locht, Niels Henrik Heegaard and Vibeke Andersen
    Citation: BMC Medical Genetics 2018 19:165
    Content type: Research article Published on:

  23. The rupture of a brain aneurysm causes bleeding in the subarachnoid space and is known as aneurysmal subarachnoid haemorrhage (aSAH). In our study, we evaluated the association of factor XIII polymorphism and the...

    Authors: Arati Suvatha, M. K. Sibin, Dhananjaya I. Bhat, K. V. L. Narasingarao, Vikas Vazhayil and G. K. Chetan
    Citation: BMC Medical Genetics 2018 19:159
    Content type: Research article Published on:

  24. Genetic and environmental factors play a crucial role in the development of type 2 diabetes mellitus (T2DM) and obesity. This study aimed to investigate the association of the fat-mass and obesity-associated g...

    Authors: Anas Sabarneh, Suheir Ereqat, Stéphane Cauchi, Omar AbuShamma, Mohammad Abdelhafez, Murad Ibrahim and Abdelmajeed Nasereddin
    Citation: BMC Medical Genetics 2018 19:156
    Content type: Research article Published on:

  25. Previous studies have reported that the potassium voltage-gated channel subfamily Q member 1 (KCNQ1) gene is associated with diabetes in both European and Asian population. This study aims to find a predictable s...

    Authors: Yafei Liu, Chunxia Wang, Yafei Chen, Zhongshang Yuan, Tao Yu, Wenchao Zhang, Fang Tang, Jianhua Gu, Qinqin Xu, Xiaotong Chi, Lijie Ding, Fuzhong Xue and Chengqi Zhang
    Citation: BMC Medical Genetics 2018 19:153
    Content type: Research article Published on:

  26. Polycystic ovary syndrome (PCOS) is the main cause of female infertility. Interactions among genetic, biochemical, and immunological factors can affect the pathogenesis of PCOS. As a proinflammatory cytokine, ...

    Authors: Fahimeh Kordestani, Sahar Mazloomi, Yousef Mortazavi, Saeideh Mazloomzadeh, Mojtaba Fathi, Haleh Rahmanpour and Abolfazl Nazarian
    Citation: BMC Medical Genetics 2018 19:149
    Content type: Research article Published on:

  27. The underlying mechanism of the effect of FTO genotype on body mass index (BMI) and body composition is unknown. The objective of the study was to investigate the association of FTO gene polymorphisms with ant...

    Authors: Naser Kalantari, Nastaran Keshavarz Mohammadi, Pantea Izadi, Maryam Gholamalizadeh, Saeid Doaei, Hassan Eini-Zinab, Tuire Salonurmi, Shahram Rafieifar, Reza Janipoor and Ghasem Azizi Tabesh
    Citation: BMC Medical Genetics 2018 19:146
    Content type: Research article Published on:

  28. Wilson’s disease (WD) is a rare autosomal recessive metabolic disease caused by ATP7B gene mutations tat cause excessively high copper levels, particularly in the liver and brain. The WD phenotype varies in terms...

    Authors: Corinne Collet, Jean-Louis Laplanche, Justine Page, Hélène Morel, France Woimant and Aurélia Poujois
    Citation: BMC Medical Genetics 2018 19:143
    Content type: Research article Published on:

  29. Mutations in GJB2 gene are a major causes of deafness and their spectrum and prevalence are specific for various populations. The well-known mutation c.35delG is more frequent in populations of Caucasian origin. ...

    Authors: Marina V. Zytsar, Nikolay A. Barashkov, Marita S. Bady-Khoo, Olga A. Shubina-Olejnik, Nina G. Danilenko, Alexander A. Bondar, Igor V. Morozov, Aisen V. Solovyev, Valeriia Yu. Danilchenko, Vladimir N. Maximov and Olga L. Posukh
    Citation: BMC Medical Genetics 2018 19:138
    Content type: Research article Published on:

  30. H19 was the first long non-coding RNA (lncRNA) to be confirmed. Recently, studies have suggested that H19 may participate in lung cancer (LC) development and progression. This study assessed whether single nuc...

    Authors: Lingling Li, Genyan Guo, Haibo Zhang, Baosen Zhou, Lu Bai, He Chen, Yuxia Zhao and Ying Yan
    Citation: BMC Medical Genetics 2018 19:136
    Content type: Research article Published on:

  31. The aim of this study is to identify genetic loci associated with post-bronchodilator FEV1/FVC and FEV1, and develop a multi-gene predictive model for lung function in COPD.

    Authors: Xingnan Li, Victor E. Ortega, Elizabeth J. Ampleford, R. Graham Barr, Stephanie A. Christenson, Christopher B. Cooper, David Couper, Mark T. Dransfield, Mei Lan K. Han, Nadia N. Hansel, Eric A. Hoffman, Richard E. Kanner, Eric C. Kleerup, Fernando J. Martinez, Robert Paine III, Prescott G. Woodruff…
    Citation: BMC Medical Genetics 2018 19:134
    Content type: Research article Published on:

  32. 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 Published on:

  33. 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 Published on:

  34. 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 Published on:

  35. 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 Published on:

  36. 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 Published on:

  37. 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 Published on:

  38. 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 Published on:

  39. 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 Published on:

  40. 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 Published on:

  41. 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 Published on:

  42. 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 Published on:

  43. 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 Published on:

  44. 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 Published on:

  45. 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 Published on:

  46. 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 Published on:

  48. 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 Published on:

  50. 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 Published on:

BMC Medical Genetics

ISSN: 1471-2350

Contact us