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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. Traditional and novel risk factors cannot sufficiently explain the differential susceptibility to cardiovascular disease (CVD). Epigenetics may serve to partially explain this residual disparity, with life cou...

    Authors: Elena M. Vidrascu, Alexander C. Bashore, Timothy D. Howard and Justin B. Moore

    Citation: BMC Medical Genetics 2019 20:39

    Content type: Research article

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  2. Acute chorioamnionitis (aCA), inflammation of the placenta and fetal membranes, is a frequently reported lesion in preterm deliveries. Genetic variants in innate immune system genes such as Interleukin-6 (IL6) ma...

    Authors: Chaini Konwar, Giulia F. Del Gobbo, Jefferson Terry and Wendy P. Robinson

    Citation: BMC Medical Genetics 2019 20:36

    Content type: Research article

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  3. Genome-wide association studies (GWASs) of a large cohort of subjects with chronic obstructive pulmonary disease (COPD) have successfully identified multiple risk genes, including fibroblast growth factor 7 (FGF7

    Authors: Xiaomei Zhang, Yongxin Guo, Jing Yang, Jianlou Niu, Lina Du, Haiyan Li and Xiaokun Li

    Citation: BMC Medical Genetics 2019 20:33

    Content type: Research article

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  4. Polycystic ovary syndrome (PCOS) is a common endocrine disorder in reproductive-age women. Multiple susceptible gene as well as environmental factors and their interaction each other are contributed to the PCO...

    Authors: Xiao-Yuan Shi, Ai-Ping Huang, Duo-Wen Xie and Xiao-Long Yu

    Citation: BMC Medical Genetics 2019 20:32

    Content type: Research article

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  5. Tumor necrosis factor superfamily member 15 (TNFSF15) is closely related to tumorigenesis and development. This study aimed to investigate the correlations between TNFSF15 polymorphisms and genetic susceptibility...

    Authors: Hui Gao, Zeren Niu, Zhi Zhang, Hongjiao Wu, Yuning Xie, Zhenbang Yang, Ang Li, Zhenxian Jia and Xuemei Zhang

    Citation: BMC Medical Genetics 2019 20:29

    Content type: Research article

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  6. Myopia is one of most common eye diseases in the world and affects 1 in 4 Americans. It is a complex disease caused by both environmental and genetics effects; the genetics effects are still not well understoo...

    Authors: Claire L. Simpson, Anthony M. Musolf, Qing Li, Laura Portas, Federico Murgia, Roberto Y. Cordero, Jennifer B. Cordero, Bilal A. Moiz, Emily R. Holzinger, Candace D. Middlebrooks, Deyana D. Lewis, Joan E. Bailey-Wilson and Dwight Stambolian

    Citation: BMC Medical Genetics 2019 20:27

    Content type: Research article

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  7. Schizophrenia is a severe neurodevelopmental disorder with a complex genetic and environmental etiology. Abnormal glutamate ionotropic N-methyl-D-aspartate receptor (NMDA) type subunit 1 (NR1) may be a potenti...

    Authors: Yong-ping Liu, Mei Ding, Xi-cen Zhang, Yi Liu, Jin-feng Xuan, Jia-xin Xing, Xi Xia, Jun Yao and Bao-jie Wang

    Citation: BMC Medical Genetics 2019 20:26

    Content type: Research article

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  8. Age-related macular degeneration (AMD) can cause vision loss or blindness in elderly. The associations between single nucleotide polymorphism (SNP) and AMD in Chinese Tujia ethnic minority group are still uncl...

    Authors: Shengchun Liu, Mingxing Wu, Bianwen Zhang, Xiaojing Xiong, Hao Wang and Xiyuan Zhou

    Citation: BMC Medical Genetics 2019 20:25

    Content type: Research article

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  9. Currently published studies investigating association between the killer cell immunoglobulin-like receptor (KIR) gene polymorphisms and rheumatoid arthritis (RA) reported inconsistent and contradictory results...

    Authors: Hamideh Aghaei, Shayan Mostafaei, Saeed Aslani, Ahmadreza Jamshidi and Mahdi Mahmoudi

    Citation: BMC Medical Genetics 2019 20:24

    Content type: Research article

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  10. Hereditary amyloidosis refers to a wide spectrum of rare diseases with different causative mutations in the genes of various proteins including transthyretin, apolipoprotein AI and AII, gelsolin, lysozyme, cys...

    Authors: Myrto Moutafi, Dimitrios C. Ziogas, Spyros Michopoulos, Tina Bagratuni, Vassiliki Vasileiou, Laura Verga, Giampaolo Merlini, Giovanni Palladini, Charis Matsouka, Meletios A. Dimopoulos and Efstathios Kastritis

    Citation: BMC Medical Genetics 2019 20:23

    Content type: Case report

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  11. There are several meta-analyses on the genetic relationship between the rs1695 polymorphism within the GSTP1 (glutathione S-transferase pi 1) gene and the risk of different SCC (squamous cell carcinoma) diseases,...

    Authors: Shuang Wang, Jingqi Zhang, Fan Jun and Zhijie Bai

    Citation: BMC Medical Genetics 2019 20:22

    Content type: Research article

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  12. The apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3 (APOBEC3) genes A3D, A3F, A3G and A3H have all been implicated in the restriction of human immunodeficiency virus type 1 (HIV-1) replicati...

    Authors: Nontokozo D. Matume, Denis M. Tebit, Laurie R. Gray, Stephen D. Turner, David Rekosh, Pascal O. Bessong and Marie-Louise Hammarskjöld

    Citation: BMC Medical Genetics 2019 20:21

    Content type: Research article

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  13. Interleukin-17 (IL-17), a pleiotropic cytokine, plays a significant role in the inflammatory diseases. By a pilot study with small population, IL-17 polymorphisms (IL-17A rs2275913 and IL-17F rs763780) showed ...

    Authors: Yuming Bai, Shijun Gao, Ying Liu, Shengli Jin, Haisen Zhang and Ke Su

    Citation: BMC Medical Genetics 2019 20:20

    Content type: Research article

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  14. Major symptoms of chronic obstructive pulmonary disease (COPD) are chronic bronchitis and emphysema leading from lung tissue destruction, that is an effect of an imbalance between metalloproteinases (MMPs) and...

    Authors: Iwona Gilowska, Edyta Majorczyk, Łukasz Kasper, Katarzyna Bogacz, Jan Szczegielniak, Marta Kasper, Jacek Kaczmarski, Aleksandra Skomudek, Marcin Czerwinski and Krzysztof Sładek

    Citation: BMC Medical Genetics 2019 20:19

    Content type: Research article

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  15. Many epidemiological studies have suggested that insulin-like growth factor1 (IGF1) gene single-nucleotide polymorphisms (SNPs) may be associated with cancer risk. Among several commonly studied polymorphisms in

    Authors: Gui-Ping Xu, Wei-Xian Chen, Qing Zhao, Hua Zhou, Shi-Zhi Chen and Li-Fang Wu

    Citation: BMC Medical Genetics 2019 20:17

    Content type: Research article

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  16. Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NH...

    Authors: Chao Ling, Ruifang Sui, Fengxia Yao, Zhihong Wu, Xue Zhang and Shuyang Zhang

    Citation: BMC Medical Genetics 2019 20:14

    Content type: Research article

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  17. Plaque psoriasis is a non-contagious skin disease in which characteristic red and flaky lesions result from a dysregulation involving both innate and adaptive immune mechanisms. Several cytokines have been imp...

    Authors: Tanel Traks, Maris Keermann, Ele Prans, Maire Karelson, Ulvi Loite, Gea Kõks, Helgi Silm, Sulev Kõks and Külli Kingo

    Citation: BMC Medical Genetics 2019 20:10

    Content type: Research article

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  18. 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

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  19. Host genetic factors affect the immune response to Mycobacterium tuberculosis (Mtb) infection as well as the progression of the disease. Epiregulin (EREG) belongs to the epidermal growth factor (EGF) family, whic...

    Authors: Wen Cao, Liu-lin Luo, Wei-wei Chen, Li Liang, Ran-ran Zhang, Yan-lin Zhao, Jin Chen and Jun Yue

    Citation: BMC Medical Genetics 2019 20:7

    Content type: Research article

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  20. 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

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  21. 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

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  22. 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

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  23. 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

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  24. 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

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  25. 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

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  26. 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

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  27. 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

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  28. 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

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  29. 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

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  30. 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

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  31. 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

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  32. 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

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  33. 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

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  34. 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

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  35. 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

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  36. 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

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  37. 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

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  38. 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

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  39. 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

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  40. 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

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  41. 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

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  42. 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

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  43. 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

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  44. 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

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  45. 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

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  46. 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

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  47. 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

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  48. 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

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  49. 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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