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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. PGF and TNFAIP2 are important angiogenic factors, which were abnormal expression in cervical cancer (CC). However, there is currently no report investigating the relationship of PGF and TNFAIP2 gene polymorphisms...

    Authors: Zumurelaiti Ainiwaer, Reyilanmu Maisaidi, Jing Liu, Lili Han, Sulaiya Husaiyin, Jing Lu and Mayinuer Niyazi

    Citation: BMC Medical Genetics 2020 21:212

    Content type: Research article

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  2. Replication studies showed conflicting effects of ABCG2 and SLC2A9 polymorphisms on gout and serum urate. This meta-analysis therefore aimed to pool their effects across studies.

    Authors: Thitiya Lukkunaprasit, Sasivimol Rattanasiri, Saowalak Turongkaravee, Naravut Suvannang, Atiporn Ingsathit, John Attia and Ammarin Thakkinstian

    Citation: BMC Medical Genetics 2020 21:210

    Content type: Research article

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  3. Apoptosis is a type of cell death involved in different pathways inherent to the cell and the evasion from this mechanism has been related to cancer, although this process remains not very well comprehended. G...

    Authors: Giovanna Chaves Cavalcante, Milene Raiol de Moraes, Cristina Maria Duarte Valente, Caio Santos Silva, Antônio André Conde Modesto, Paula Baraúna de Assumpção, Paulo Pimentel de Assumpção, Sidney Santos and Ândrea Ribeiro-dos-Santos

    Citation: BMC Medical Genetics 2020 21:207

    Content type: Research article

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  4. The effect of the p.Arg72Pro variant of the P53 gene on the risk of development ofbreast cancer remains variable in populations. However, the use ofstrategies such aspoolingage-matched controls with disease may p...

    Authors: Brehima Diakite, Yaya Kassogue, Guimogo Dolo, Jun Wang, Erin Neuschler, Oumar Kassogue, Mamadou L Keita, Cheick B Traore, Bakarou Kamate, Etienne Dembele, Sellama Nadifi, Robert L Murphy, Seydou Doumbia, Lifang Hou and Mamoudou Maiga

    Citation: BMC Medical Genetics 2020 21:206

    Content type: Research article

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  5. CpG methylation of tumor suppressor genes occurs in the early stage of carcinogenesis. Detecting risk factors for aberrant CpG methylation is clinically important for predicting cancer development. DNA methylt...

    Authors: Hikaru Takano, Tomoyuki Shibata, Masakatsu Nakamura, Naoko Sakurai, Tasuku Hayashi, Masafumi Ota, Tomoe Nomura-Horita, Ranji Hayashi, Takeo Shimasaki, Toshimi Otsuka, Tomomitsu Tahara and Tomiyasu Arisawa

    Citation: BMC Medical Genetics 2020 21:205

    Content type: Research article

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  6. Genetic analyses have identified many variants associated with the risk of inflammatory bowel disease (IBD) development. Among these variants, the ones located within the NOD2 gene have the highest odds ratio of ...

    Authors: Williams Turpin, Larbi Bedrani, Osvaldo Espin-Garcia, Wei Xu, Mark S. Silverberg, Michelle I. Smith, Juan Antonio Raygoza Garay, Sun-Ho Lee, David S. Guttman, Anne Griffiths, Paul Moayyedi, Remo Panaccione, Hien Huynh, Hillary A. Steinhart, Guy Aumais, Levinus A. Dieleman…

    Citation: BMC Medical Genetics 2020 21:204

    Content type: Research article

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  7. CDKN2A hypermethylation is among the major events associated with carcinogenesis and is also observed in non-neoplastic colonic mucosa in patients with ulcerative colitis (UC). Macrophage migration inhibitory fac...

    Authors: Naoko Sakurai, Tomoyuki Shibata, Masakatsu Nakamura, Hikaru Takano, Tasuku Hayashi, Masafumi Ota, Tomoe Nomura-Horita, Ranji Hayashi, Takeo Shimasaki, Toshimi Ostuka, Tomomitsu Tahara and Tomiyasu Arisawa

    Citation: BMC Medical Genetics 2020 21:201

    Content type: Research article

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  8. Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency ...

    Authors: Ricardo M. Cerda-Flores, Karen Paola Camarillo-Cárdenas, Gabriela Gutiérrez-Orozco, Mónica Patricia Villarreal-Vela, Raquel Garza-Guajardo, Marco Antonio Ponce-Camacho, Ana Lilia Castruita-Ávila, Juan Francisco González-Guerrero, Iram Pablo Rodríguez-Sánchez, Ana Laura Calderón-Garcidueñas, Hazyadee Frecia Rodríguez-Gutierrez, Juan Carlos Arellano-Barrientos, Oscar Vidal Gutierrez, Hugo Alberto Barrera Saldaña and María Lourdes Garza-Rodríguez

    Citation: BMC Medical Genetics 2020 21:187

    Content type: Research article

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  9. Genetic eye diseases constitute a large and heterogeneous group of childhood ocular morbidity. Individual diseases may cause multiple structural anomalies and developmental features. Nepal Pediatric Ocular Dis...

    Authors: Srijana Adhikari, Neelam Thakur, Ujjowala Shrestha, Mohan K Shrestha, Murarai Manshrestha, Bijay Thapa, Manish Poudel and Ajaya Kunwar

    Citation: BMC Medical Genetics 2020 21:185

    Content type: Research article

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  10. Two important aspects for the development of anxiety disorders are genetic predisposition and alterations in the hypothalamic-pituitary-adrenal (HPA) axis. In order to identify genetic risk-factors for anxiety...

    Authors: Heléne Lindholm, India Morrison, Alexandra Krettek, Dan Malm, Giovanni Novembre and Linda Handlin

    Citation: BMC Medical Genetics 2020 21:184

    Content type: Research article

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  11. The complement component (3b/4b) receptor 1 gene (CR1) gene has been proved to affect the susceptibility of Alzheimer’s disease (AD) in different ethnic and districts groups. However, the effect of CR1 genetic va...

    Authors: Xi-chen Zhu, Wen-zhuo Dai and Tao Ma

    Citation: BMC Medical Genetics 2020 21:181

    Content type: Research article

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  12. Cardiovascular diseases are still the major cause of death in the Western world, with different outcomes between the two genders. Efforts to identify those at risk are therefore given priority in the handling ...

    Authors: Urban Alehagen, Levar Shamoun and Dick Wågsäter

    Citation: BMC Medical Genetics 2020 21:179

    Content type: Research article

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  13. A Genetic risk score for coronary artery disease (CAD) improves the ability of predicting coronary heart disease (CHD). It is unclear whether i) the use of a CAD genetic risk score is superior to the measureme...

    Authors: Sonali Pechlivanis, Nils Lehmann, Per Hoffmann, Markus M. Nöthen, Karl-Heinz Jöckel, Raimund Erbel and Susanne Moebus

    Citation: BMC Medical Genetics 2020 21:178

    Content type: Research article

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  14. Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. ...

    Authors: Ali Amar, Ayesha Afzal, Athar Hameed, Mumtaz Ahmad, Abdul Rafay Khan, Humaira Najma, Aiysha Abid and Shagufta Khaliq

    Citation: BMC Medical Genetics 2020 21:172

    Content type: Research article

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  15. The frequency of the alpha thalassemia trait is approximately 40% in the Kuwaiti population, but there has been no comprehensive study of the prevalent alleles. This is a report of patients who were referred f...

    Authors: Adekunle Adekile, Jalaja Sukumaran, Diana Thomas, Thomas D’Souza and Mohammad Haider

    Citation: BMC Medical Genetics 2020 21:170

    Content type: Research article

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  16. Leptin receptor gene (LEPR) variants may affect the leptin levels and act as a risk factor for preeclampsia. Two LEPR gene missense variants rs1137101 (c.668A>G) and rs1805094 (c.1968G>C) were investigated in Sud...

    Authors: Amira Saad, Ishag Adam, Salah Eldin G. Elzaki, Hiba A. Awooda and Hamdan Z. Hamdan

    Citation: BMC Medical Genetics 2020 21:162

    Content type: Research article

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  17. The CACNA1C gene was defined as a risk gene for schizophrenia in a large genome-wide association study of European ancestry performed by the Psychiatric Genomics Consortium. Previous meta-analyses focused on the ...

    Authors: Yong-ping Liu, Xue Wu, Xi Xia, Jun Yao and Bao-jie Wang

    Citation: BMC Medical Genetics 2020 21:159

    Content type: Research article

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  18. Heroin dependence is a complex disease with multiple phenotypes. Classification of heroin users into more homogeneous subgroups on the basis of these phenotypes could help to identify the involved genetic fact...

    Authors: Yunxiao Li, Yongsheng Zhu, Jianghua Lai, Xugang Shi, Yuanyuan Chen, Jinyu Zhang and Shuguang Wei

    Citation: BMC Medical Genetics 2020 21:157

    Content type: Research article

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  19. Gastric cancer is one of the four most common cancer that causing death worldwide. Genome-Wide Association Studies (GWAS) have shown that genetic diversities MUC1 (Mucin 1) and PSCA (Prostate Stem Cell Antigen) g...

    Authors: Reza Alikhani, Ali Taravati and Mohammad Bagher Hashemi-Soteh

    Citation: BMC Medical Genetics 2020 21:148

    Content type: Research article

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  20. Glaucoma is a polygenic neurodegenerative disease and the second most common cause of blindness in Saudi Arabia. To test the hypothesis that genetic variants in the genes involved in the bone morphogenic prote...

    Authors: Altaf A. Kondkar, Tahira Sultan, Taif A. Azad, Essam A. Osman, Faisal A. Almobarak and Saleh A. Al-Obeidan

    Citation: BMC Medical Genetics 2020 21:145

    Content type: Research article

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  21. Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53. The aim of our stud...

    Authors: Brehima Diakite, Yaya Kassogue, Guimogo Dolo, Oumar Kassogue, Mamadou Lassine Keita, Brian Joyce, Erin Neuschler, Jun Wang, Jonah Musa, Cheick Bougari Traore, Bakarou Kamate, Etienne Dembele, Sellama Nadifi, Mercy Isichei, Jane L. Holl, Robert Murphy…

    Citation: BMC Medical Genetics 2020 21:142

    Content type: Research article

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  22. Published studies present conflicting data regarding the impact of Thrombospondin-1 (TSP-1) expression on prognosis of various cancers. We performed this meta-analysis to illustrate the preliminary predictive ...

    Authors: Shengjie Sun, Huiyu Dong, Tao Yan, Junchen Li, Bianjiang Liu, Pengfei Shao, Jie Li and Chao Liang

    Citation: BMC Medical Genetics 2020 21:139

    Content type: Research article

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  23. Liver cancer is one of the most common cancers in the world. The primary aim of this research was to discover the correlation between single nucleotide polymorphisms (SNPs) of the MIR155HG and liver cancer risk.

    Authors: Xu Chao, Xuesong Feng, Xiaoping Wang, Hailong Shi, Hong Li, Yuewen Wang, Lanlan Wang, Haiyu Shen, Qing Zha and Yanni Chen

    Citation: BMC Medical Genetics 2020 21:134

    Content type: Research article

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  24. Vitamin D metabolism and obesity have been linked by several studies, however the reason for this association is unclear. Our objective was to investigate potential correlations between genetic variants in key...

    Authors: Bence Bakos, Balázs Szili, Boglárka Szabó, Péter Horváth, Gyöngyi Kirschner, János P. Kósa, Erzsébet Toldy, Péter Lakatos, Ádám G. Tabák and István Takács

    Citation: BMC Medical Genetics 2020 21:129

    Content type: Research article

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  25. Wilson disease (WD) is an Autosomal-Recessive disorder due to mutations of ATP7B gene on chromosome 13q14.3. Inadequate protein function leads to low ceruloplasmin blood levels and copper accumulation in liver, b...

    Authors: Annamaria Sapuppo, Piero Pavone, Andrea Domenico Praticò, Martino Ruggieri, Gaetano Bertino and Agata Fiumara

    Citation: BMC Medical Genetics 2020 21:128

    Content type: Case report

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  26. Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSM...

    Authors: Tao Jia, Yi Zheng, Cheng Feng, Tielin Yang and Songmei Geng

    Citation: BMC Medical Genetics 2020 21:126

    Content type: Case report

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  27. Sickle cell disease (SCD) is a blood disorder caused by a point mutation on the beta globin gene resulting in the synthesis of abnormal hemoglobin. Fetal hemoglobin (HbF) reduces disease severity, but the leve...

    Authors: Siana Nkya, Liberata Mwita, Josephine Mgaya, Happiness Kumburu, Marco van Zwetselaar, Stephan Menzel, Gaston Kuzamunu Mazandu, Raphael Sangeda, Emile Chimusa and Julie Makani

    Citation: BMC Medical Genetics 2020 21:125

    Content type: Research article

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  28. Otosclerosis (OTSC) is among the most common causes of a late-onset hearing loss in adults and is characterized by an abnormal bone growth in the otic capsule. Alteration in the osteoprotegerin (OPG) expressio...

    Authors: Amal Bouzid, Adel Tekari, Fida Jbeli, Amine Chakroun, Kirtal Hansdah, Amal Souissi, Neha Singh, Mohamed Ali Mosrati, Imen Achour, Abdelmonem Ghorbel, Ilhem Charfeddine, Puppala Venkat Ramchander and Saber Masmoudi

    Citation: BMC Medical Genetics 2020 21:122

    Content type: Research article

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  29. Spontaneous coronary artery dissection (SCAD) is frequently reported as a disorder that primarily affects women without risk factors for cardiovascular disease. Although it has been recognized as one of the ge...

    Authors: Bo Bai, Meng Zhang, Yihao Zhuang, Jirong Zhu, Wenjing Li, Wei Ma and Haibo Chen

    Citation: BMC Medical Genetics 2020 21:119

    Content type: Case report

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  30. Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked recessive inherited osteochondrodysplasia caused by mutations in the TRAPPC2 gene. It is clinically characterized by disproportionate short stature and...

    Authors: Cai Zhang, Caiqi Du, Juan Ye, Feng Ye, Renfa Wang, Xiaoping Luo and Yan Liang

    Citation: BMC Medical Genetics 2020 21:117

    Content type: Research article

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  31. Pheochromocytoma/paraganglioma (PPGL) is a rare neuroendocrine tumor. Succinate dehydrogenase (SDH) deficiency has been confirmed to be associated with PPGL in various studies. SDHB mutations play an important...

    Authors: Heye Chen, Wei Yao, Qing He, Xuefang Yu and Bo Bian

    Citation: BMC Medical Genetics 2020 21:116

    Content type: Case report

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  32. The pathogenesis of dental caries remains unclear, with increasing evidence suggesting that genetic susceptibility plays an essential role. Previous studies have reported the association between genetic polymo...

    Authors: Xueyan Li, Yi Su, Di Liu and Jingyun Yang

    Citation: BMC Medical Genetics 2020 21:114

    Content type: Research article

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  33. Maternal cytomegalovirus (CMV) infection and/or reactivation in pregnancy is associated with a myriad of adverse infant outcomes. However, the role of host genetic polymorphisms in modulating maternal CMV stat...

    Authors: Doreen Z. Mhandire, Kudakwashe Mhandire, Mulalo Magadze, Ambroise Wonkam, Andre P. Kengne and Collet Dandara

    Citation: BMC Medical Genetics 2020 21:113

    Content type: Research article

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  34. Black women in the United States and Africa are at an increased risk for preeclampsia. Allelic variants in the gene for apolipoprotein LI, APOL1, are found only in populations of African ancestry, and have been s...

    Authors: Anna K. Miller, Timur Azhibekov, John F. O’Toole, John R. Sedor, Scott M. Williams, Raymond W. Redline and Leslie A. Bruggeman

    Citation: BMC Medical Genetics 2020 21:110

    Content type: Research article

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  35. Nuclear genome or family mitochondrial screening system has become the hot focus of studies into essential hypertension. The role of mitochondrial DNA (mtDNA) in sporadic Chinese patients with hypertension has...

    Authors: Ye Zhu, Jia You, Chao Xu and Xiang Gu

    Citation: BMC Medical Genetics 2020 21:105

    Content type: Research article

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  36. Cutaneous leishmaniasis (CL) is well linked with immunogenetic factors. This study was undertaken to test the association of TNF-α − 308 and IFN-γ + 874 gene polymorphisms with the susceptibility of Leishmania (L...

    Authors: Ahmed A. Ahmed, Zafar Rasheed, Tarek Salem, Mohammed S. Al-Dhubaibi, Ahmad A. Al Robaee and Abdullateef A. Alzolibani

    Citation: BMC Medical Genetics 2020 21:104

    Content type: Research article

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  37. To date, the fundamental pathophysiology underlying the occurrence and progression of psoriasis are still unanswered questions. Genome-wide association surveys have revealed that TNFAIP3 and TNIP1 were key bio...

    Authors: Hai-bo Gong, Shu-tao Gao, Xiong-ming Pu, Xiao-jing Kang and Xiu-juan Wu

    Citation: BMC Medical Genetics 2020 21:103

    Content type: Research article

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  38. Interleukin (IL) 28B polymorphisms encoding pro-inflammatory and anti-inflammatory cytokines trigger diverse clinical outcome of hepatitis virus infection. However, there is controversy concerning the association...

    Authors: Jingyu Zhao, Xinyue Zhang, Liwei Fang, Hong Pan and Jun Shi

    Citation: BMC Medical Genetics 2020 21:88

    Content type: Research article

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  39. The role of angiotensin II type 1 receptor (AT1R) as a key player in type 2 diabetes mellitus (T2DM) complicated with hypertension remains controversial. The present case-control study systematically investigated...

    Authors: Lina Hou, Xiaohong Quan, Xian Li and Xiulan Su

    Citation: BMC Medical Genetics 2020 21:83

    Content type: Research article

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  40. Investigations in genetics have provided valuable information about the correlation between gene variants and tendinopathy. Single Nucleotide Polymorphisms of COL5A1 gene are reported to be involved in Achille...

    Authors: Stefano Petrillo, Umile Giuseppe Longo, Katia Margiotti, Vincenzo Candela, Caterina Fusilli, Giacomo Rizzello, Alessandro De Luca and Vincenzo Denaro

    Citation: BMC Medical Genetics 2020 21:82

    Content type: Research article

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  41. Prostate cancer is one of the five common cancers and has the second incidence rate and the third mortality rate in Iranian population. The purpose of this study was to evaluate the association of rs16901979, ...

    Authors: Behnaz Beikzadeh, Seyed Abdolhamid Angaji and Maryam Abolhasani

    Citation: BMC Medical Genetics 2020 21:81

    Content type: Research article

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  42. Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chr...

    Authors: Eva Lindberg, Claes Moller, Juha Kere, Satu Wedenoja and Agneta Anderzén-Carlsson

    Citation: BMC Medical Genetics 2020 21:79

    Content type: Case report

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  43. Despite recent findings that epithelial cell adhesion molecule (EPCAM) deletions can cause Lynch syndrome (LS), its clinical characteristics are still unknown. We present the first case of ileum cancer in a patie...

    Authors: Narushi Iwata, Ayumi Shikama, Wataru Takao, Yoshihiko Hosokawa, Hiroya Itagaki, Nobutaka Tasaka, Azusa Akiyama, Hiroyuki Ochi, Takeo Minaguchi, Miwa Arita, Emiko Noguchi, Toshikazu Moriwaki and Toyomi Satoh

    Citation: BMC Medical Genetics 2020 21:76

    Content type: Case report

    Published on:

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As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.