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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. Hepatitis B is known to cause several forms of liver diseases including chronic hepatitis B (CHB), and hepatocellular carcinoma. Previous genome-wide association study of CHB risk has demonstrated that rs12614 of...

    Authors: Jung Yeon Seo, Joong-Gon Shin, Byeong Ju Youn, Suhg Namgoong, Hyun Sub Cheong, Lyoung Hyo Kim, Ji On Kim, Hyoung Doo Shin and Yoon Jun Kim
    Citation: BMC Medical Genetics 2020 21:241
    Content type: Research article Published on:

  2. Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include ...

    Authors: Ciliu Zhang, Xiaolu Deng, Yafei Wen, Fang He, Fei Yin and Jing Peng
    Citation: BMC Medical Genetics 2020 21:235
    Content type: Case report Published on:

  3. Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant. This is important since various factors (type...

    Authors: Paula Sienes Bailo, Raquel Lahoz, Juan Pelegrín Sánchez Marín and Silvia Izquierdo Álvarez
    Citation: BMC Medical Genetics 2020 21:233
    Content type: Research article Published on:

  4. Previous studies evaluated the association of IL-4 C33T polymorphism and risk of bronchial asthma but failed to establish a consistent conclusive association. In the present meta-analysis, we intend to define ...

    Authors: Danyal Imani, Mohammad Masoud Eslami, Gholamreza Anani-Sarab, Mansur Aliyu, Bahman Razi and Ramazan Rezaei
    Citation: BMC Medical Genetics 2020 21:232
    Content type: Research article Published on:

  5. Genetic factors may influence the susceptibility to high-risk (hr) human papillomavirus (HPV) infection and persistence. We conducted the first genome-wide association study (GWAS) to identify variants associa...

    Authors: Sally N. Adebamowo, Adebowale A. Adeyemo, Charles N. Rotimi, Olayinka Olaniyan, Richard Offiong and Clement A. Adebamowo
    Citation: BMC Medical Genetics 2020 21:231
    Content type: Research article Published on:

  6. Though bladder cancer has been the subject of many well-powered genome-wide association studies, the mechanisms involving bladder-cancer-associated single nucleotide polymorphisms (SNPs) remain largely unknown...

    Authors: Kristina M. Jordahl, Amanda I. Phipps, Timothy W. Randolph, Lesley F. Tinker, Rami Nassir, Lifang Hou, Garnet L. Anderson, Karl T. Kelsey, Emily White and Parveen Bhatti
    Citation: BMC Medical Genetics 2020 21:228
    Content type: Research article Published on:

  7. Polymorphisms in genes modulating xenobiotics metabolism, in particular the ABCC2 c.3972C > T single nucleotide polymorphism (SNP) at exon 28, have been suggested to increase primary liver cancer (PLC) risk. C...

    Authors: Giovanni Brandi, Alessandro Rizzo, Marzia Deserti, Valeria Relli, Valentina Indio, Sofia Bin, Milena Pariali, Andrea Palloni, Stefania De Lorenzo, Francesco Tovoli and Simona Tavolari
    Citation: BMC Medical Genetics 2020 21:225
    Content type: Research article Published on:

  8. Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usua...

    Authors: Xin Li, Ying Li, Min Lei, Jing Tian, Zuocheng Yang, Shoujin Kuang, Yanjuan Tan and Tao Bo
    Citation: BMC Medical Genetics 2020 21:224
    Content type: Case report Published on:

  9. Hereditary spherocytosis (HS) is the most common haemolytic anaemia caused by congenital membrane defects of red blood cells. The name derives from the presence of spherical red blood cells in the peripheral b...

    Authors: Senmao Chai, Rong Jiao, Xiaodong Sun, Pan Fu, Qiang Zhao and Ming Sang
    Citation: BMC Medical Genetics 2020 21:223
    Content type: Case report Published on:

  11. 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 Published on:

  12. 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 Published on:

  13. 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 Published on:

  14. 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 Published on:

  15. 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 Published on:

  16. 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 Published on:

  17. 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 Published on:

  19. 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 Published on:

  20. 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 Published on:

  21. 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 Published on:

  22. 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 Published on:

  24. 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 Published on:

  25. 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 Published on:

  27. 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 Published on:

  28. 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 Published on:

  29. 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 Published on:

  31. 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 Published on:

  32. 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 Published on:

  33. 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 Published on:

  35. 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 Published on:

  36. 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 Published on:

  37. 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 Published on:

  38. 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 Published on:

  39. 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 Published on:

  40. 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 Published on:

  41. 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 Published on:

  42. 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 Published on:

  43. 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 Published on:

  44. 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 Published on:

  45. 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 Published on:

  46. 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 Published on:

  47. 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 Published on:

  48. 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 Published on:

  49. 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 Published on:

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