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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. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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

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  26. Several obesity susceptibility loci in genes, including GNPDA2, SH2B1, TMEM18, MTCH2, CDKAL1, FAIM2, and MC4R, have been identified by genome-wide association studies. The purpose of this study was to investigate...

    Authors: Jing Kang, Ren-Chu Guan, Ying Zhao and Yan Chen

    Citation: BMC Medical Genetics 2020 21:65

    Content type: Research article

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  27. Brucellosis is a quite normal zoonotic infection, which is caused by immediate contact with animals infected with Brucella or its products. IL-10 (− 1082 G/A, − 819 C/T, − 592C/A) and IL-6 -174 G/C polymorphis...

    Authors: Xiaochun Jin, Yueyuan Wu, Shuzhou Yin, Xu Chen and Youtao Zhang

    Citation: BMC Medical Genetics 2020 21:63

    Content type: Research article

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  28. To examine the association between lipoprotein(a) (Lp(a)) levels, LPA (rs10455872 and rs3798220) and IL1F9 (rs13415097) single nucleotide polymorphisms (SNPs) with coronary artery calcification (CAC), an importan...

    Authors: Sonali Pechlivanis, Amir A. Mahabadi, Per Hoffmann, Markus M. Nöthen, Martina Broecker-Preuss, Raimund Erbel, Susanne Moebus, Andreas Stang and Karl-Heinz Jöckel

    Citation: BMC Medical Genetics 2020 21:62

    Content type: Research article

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  29. Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant l...

    Authors: Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir and Henry Houlden

    Citation: BMC Medical Genetics 2020 21:59

    Content type: Research article

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  30. Glutathione S-transferases play a key role in the detoxification of persistent oxidative stress products which are one of several risks factors that may be associated with many types of disease processes such ...

    Authors: Herman Karim Sombié, Abel Pegdwendé Sorgho, Jonas Koudougou Kologo, Abdoul Karim Ouattara, Sakinata Yaméogo, Albert Théophane Yonli, Florencia Wendkuuni Djigma, Daméhan Tchelougou, Dogfounianalo Somda, Isabelle Touwendpoulimdé Kiendrébéogo, Prosper Bado, Bolni Marius Nagalo, Youssoufou Nagabila, Enagnon Tiémoko Herman Donald Adoko, Patrice Zabsonré, Hassanata Millogo…

    Citation: BMC Medical Genetics 2020 21:55

    Content type: Research article

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  31. The ABCG2 rs2231142 single nucleotide polymorphism (SNP) is one of the most significant genetic variants associated with hyperuricemia (HUA) in Asian populations. However, the risk of ABCG2 rs2231142 variants for...

    Authors: Jia Liu, Wei Yang, Yun Li, Zhanyun Wei and Xiaojuan Dan

    Citation: BMC Medical Genetics 2020 21:54

    Content type: Research article

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  32. Adolescence is a distinctive stage of various changes and is noted as peak age for onset of many psychiatric disorders, especially linked to stress and depression. Several genetic variations are being increasi...

    Authors: Madhumita Ghosh, Akhtar Ali, Shobhna Joshi, Adya Shankar Srivastava and Madhu G. Tapadia

    Citation: BMC Medical Genetics 2020 21:53

    Content type: Research article

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  33. Abnormal calcium homeostasis related to the development of hypertension. As the key regulator of intracellular calcium concentration, voltage-dependent calcium channels (VDCCs), the variations in these genes m...

    Authors: Lifan Huang, Yan Chu, Xiaoqin Huang, Shaohui Ma, Keqin Lin, Kai Huang, Hao Sun and Zhaoqing Yang

    Citation: BMC Medical Genetics 2020 21:44

    Content type: Research article

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  34. Individuals with δβ-thalassemia/HPFH and β-thalassemia usually present with intermedia or thalassemia major. No large-scale survey on HPFH/δβ-thalassemia in southern China has been reported to date. The purpos...

    Authors: Fan Jiang, Liandong Zuo, Dongzhi Li, Jian Li, Xuewei Tang, Guilan Chen, Jianying Zhou, Hang Lu and Can Liao

    Citation: BMC Medical Genetics 2020 21:43

    Content type: Research article

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  35. ABO gene polymorphisms have been reported to be associated with the risk of multiple cancers and cardiocerebrovascular diseases. However, the results remained controversial. In this study, we conducted a syste...

    Authors: Yanxia Li, Luyang Liu, Yubei Huang, Hong Zheng and Lian Li

    Citation: BMC Medical Genetics 2020 21:41

    Content type: Research article

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  36. Rs4977574 (A > G) and Rs1333045 (C > T) are both single nucleotide polymorphisms (SNPs) related with coronary artery disease, locating on chromosome 9p21.3. The study aimed to identify the correlation between ...

    Authors: Lei Hua, Jin-Xia Yuan, Shu He, Chen-Hui Zhao, Qiao-Wei Jia, Jing Zhang, Feng-Hui An, Zhao-Hong Chen, Li-Hua Li, Lian-Sheng Wang, Wen-Zhu Ma, Guang-Xu Xu and En-Zhi Jia

    Citation: BMC Medical Genetics 2020 21:36

    Content type: Research article

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  37. The involvement of cytokines in pathogenesis of pseudoexfoliation syndrome and glaucoma has been demonstrated in several studies. The aim of the present study was to explore the association between three promo...

    Authors: Ghasem Fakhraie, Farshid Parvini, Jalaledin Ghanavi, Shima Saif and Poopak Farnia

    Citation: BMC Medical Genetics 2020 21:32

    Content type: Research article

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  38. The goal of this study was to review relevant case-control studies to determine the association of tumor necrosis factor-α (TNF-α) gene polymorphisms and coronary artery disease (CAD) susceptibility.

    Authors: Rui Huang, Su-Rui Zhao, Ya Li, Fang Liu, Yue Gong, Jun Xing and Ze-Sheng Xu

    Citation: BMC Medical Genetics 2020 21:29

    Content type: Research article

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  39. The aim of this study was to explore the association between diabetic retinopathy (DR) and the variants of uncoupling proteins (UCPs) genes in a Chinese population of type 2 diabetes, in total and in patients ...

    Authors: Peiyao Jin, Zhiqiang Li, Xian Xu, Jiangnan He, Jianhua Chen, Xun Xu, Xuan Du, Xuelin Bai, Bo Zhang, Xiangui He, Lina Lu, Jianfeng Zhu, Yongyong Shi and Haidong Zou

    Citation: BMC Medical Genetics 2020 21:25

    Content type: Research article

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  40. More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. The disorder is caused by mutations in a single gene and the di...

    Authors: Carla Caffarelli, Stefano Gonnelli, Maria Dea Tomai Pitinca, Silvia Camarri, Antonella Al Refaie, Joussef Hayek and Ranuccio Nuti

    Citation: BMC Medical Genetics 2020 21:21

    Content type: Research article

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  41. Several reports were published on the relationship between the vascular endothelial growth factor (VEGF) -2578C > A gene polymorphism and lung cancer risk; however, the results are debatable. This meta-analysi...

    Authors: Hui-liu Zhao, Jia-hua Yu, Ling-sha Huang, Pei-zhang Li, Ming Lao, Bo Zhu and Chao Ou

    Citation: BMC Medical Genetics 2020 21:17

    Content type: Research article

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  42. The DENND1A gene is one of the most important sites associated with polycystic ovary syndrome (PCOS). We attempted to analyze the correlation between five single nucleotide polymorphisms (SNPs) in the DENND1A gen...

    Authors: Ya-nan Zhu, Yi-ting Zhang, Qin Liu, Shan-mei Shen, Xiang Zou, Yun-xia Cao, Wen-jun Wang, Long Yi, Qian Gao, Wei-dong Yang and Yong Wang

    Citation: BMC Medical Genetics 2020 21:14

    Content type: Research article

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  43. Hypertension is one of the risk factors for obesity-related cardiovascular diseases. We investigated whether genetic variations in serotonin 2A receptor (HTR2A) were associated with hypertension.

    Authors: Jung Ran Choi, Minhee Jeon and Sang Baek Koh

    Citation: BMC Medical Genetics 2020 21:5

    Content type: Research article

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  44. We explored the association of leucine-rich repeats and calponin homology domain containing 1 (LRCH1) gene polymorphisms with genetic susceptibility to delayed encephalopathy after acute carbon monoxide poison...

    Authors: Jiapeng Gu, Jiao Zeng, Xi Wang, Xin Gu, Xiaoli Zhang, Ping Zhang, Fan Zhang, Yongkai Han, Yazhou Han, Hongxing Zhang, Wenqiang Li and Renjun Gu

    Citation: BMC Medical Genetics 2019 20:197

    Content type: Research article

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  45. The deficiency of vitamin D receptor (VDR) or its ligand, vitamin D3, is linked to the development of renal diseases. The TaqI (rs731236) and ApaI (rs7975232) polymorphisms of VDR gene are widely studied for t...

    Authors: Tajamul Hussain, Shaik M. Naushad, Anwar Ahmed, Salman Alamery, Arif A. Mohammed, Mohamed O. Abdelkader and Nasser Abobakr Nasser Alkhrm

    Citation: BMC Medical Genetics 2019 20:193

    Content type: Research article

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