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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.

Page 1 of 11

  1. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. Poor joint flexibility has been repeatedly proposed as a risk factor for muscle injury. The C-to-T polymorphism (rs12722) in the 3′-untranslated region of the collagen type V α1 chain gene (COL5A1) is reportedly ...

    Authors: Eri Miyamoto-Mikami, Naokazu Miyamoto, Hiroshi Kumagai, Kosuke Hirata, Naoki Kikuchi, Hirofumi Zempo, Noriko Kimura, Nobuhiro Kamiya, Hiroaki Kanehisa, Hisashi Naito and Noriyuki Fuku

    Citation: BMC Medical Genetics 2019 20:192

    Content type: Research article

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  22. Factor V Leiden polymorphism is a well-recognized genetic factor in the etiology of preeclampsia. Considering that Ghana is recording high incidence of preeclampsia, we examined if factor V Leiden is a contrib...

    Authors: G. K. Ababio, K. Adu-Bonsaffoh, E. Abindau, G. Narh, D. Tetteh, F. Botchway, D. Morvey, J. Neequaye and I. K. Quaye

    Citation: BMC Medical Genetics 2019 20:189

    Content type: Research article

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  23. Our purpose was to determine if SIRT1 (rs4746720, rs3740051) genotypes have an influence on the development of pituitary adenoma (PA).

    Authors: Rasa Liutkeviciene, Alvita Vilkeviciute, Greta Morkunaite, Brigita Glebauskiene and Loresa Kriauciuniene

    Citation: BMC Medical Genetics 2019 20:185

    Content type: Research article

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  24. A 32-base pair deletion (∆32) in the open reading frame (ORF) of C-C motif chemokine receptor 5 (CCR5) seems to be a protective variant against immune system diseases, especially human immunodeficiency virus type...

    Authors: Amir Tajbakhsh, Mostafa Fazeli, Mehdi Rezaee, Faezeh Ghasemi, Mastoureh Momen Heravi, Aida Gholoobi and Zahra Meshkat

    Citation: BMC Medical Genetics 2019 20:184

    Content type: Research article

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  25. It is well established that long-term use of aspirin can cause gastric mucosal injury. ACEIs and ARBs are inversely related to gastric ulcer development. This study aimed to evaluate the relationship between SLCO...

    Authors: Lei Duan, Yongyi Bai, Man Li, Huiying Li, Yanping Li and Hongbin Liu

    Citation: BMC Medical Genetics 2019 20:183

    Content type: Research article

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  26. In recent years, several GWAS (genome wide association studies) of sleep-related traits have identified a number of SNPs (single nucleotides polymorphism) but their relationships with symptoms of insomnia are ...

    Authors: Daniela Bragantini, Børge Sivertsen, Philip Gehrman, Stian Lydersen and Ismail Cüneyt Güzey

    Citation: BMC Medical Genetics 2019 20:179

    Content type: Research article

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  27. Pulmonary hypertension (PH) remains one of the rarest and deadliest diseases. Pulmonary Capillary Hemangiomatosis (PCH) is one of the sub-classes of PH. It was identified using histological and molecular tools...

    Authors: Ossama K. Abou Hassan, Wiam Haidar, Mariam Arabi, Hadi Skouri, Fadi Bitar, Georges Nemer and Imad Bou Akl

    Citation: BMC Medical Genetics 2019 20:176

    Content type: Research article

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  28. Whether high sensitivity C-reactive protein (hs-CRP) has a causal effect on coronary heart disease (CHD) is unclear. This study investigated the causal effect of hs-CRP on CHD risk using Mendelian Randomizatio...

    Authors: Qian Zhuang, Chong Shen, Yanchun Chen, Xianghai Zhao, Pengfei Wei, Junxiang Sun, Yanni Ji, Xiaotian Chen and Song Yang

    Citation: BMC Medical Genetics 2019 20:170

    Content type: Research article

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  29. Treatment of steroid-resistant nephrotic syndrome (SRNS) remains a challenge for paediatricians. SRNS accounts for 10~20% of childhood cases of nephrotic syndrome (NS). Individuals with SRNS overwhelmingly pro...

    Authors: Xia Wu, Wenhong Wang, Yan Liu, Wenyu Chen and Linsheng Zhao

    Citation: BMC Medical Genetics 2019 20:165

    Content type: Case report

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  30. (TA) n repeat sequence (rs8175347) of UGT1A1 gene promoter polymorphism is associated with serum bilirubin levels and gallstones among different sickle cell anaemia (SCA) populations. There are no data on UGT1A1 ...

    Authors: Oladele Simeon Olatunya, Dulcineia Martins Albuquerque, Ganiyu Olusola Akanbi, Olufunso Simisola Aduayi, Adekunle Bamidele Taiwo, Opeyemi Ayodeji Faboya, Tolorunju Segun Kayode, Daniela Pinheiro Leonardo, Adekunle Adekile and Fernando Ferreira Costa

    Citation: BMC Medical Genetics 2019 20:160

    Content type: Research article

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  31. Associations between IKZF1 gene variants and Acute Lymphoblastic Leukemia (ALL) was recently reported. We examined whether the common IKZF1 polymorphisms rs4132601 T/G and rs111978267 A/G are associated with ALL ...

    Authors: Sana Mahjoub, Vera Chayeb, Hedia Zitouni, Rabeb M. Ghali, Haifa Regaieg, Wassim Y. Almawi and Touhami Mahjoub

    Citation: BMC Medical Genetics 2019 20:159

    Content type: Research article

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  32. Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in ...

    Authors: Yuan Wu, Junjie Zhao, Yonglin Zhao, Tingqin Huang, Xudong Ma, Honggang Pang and Ming Zhang

    Citation: BMC Medical Genetics 2019 20:155

    Content type: Research article

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  33. Unique pathogenic mutations in BRCA1 and 2 genes have been reported in different populations of patients originating from the Middle East region. Limited data are available for the Iraqi population. For many reas...

    Authors: Chantal Farra, Christelle Dagher, Lama Hamadeh, Nagi El Saghir and Deborah Mukherji

    Citation: BMC Medical Genetics 2019 20:154

    Content type: Research article

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  34. Rotator cuff disease is a widespread musculoskeletal pathology and a major cause of shoulder pain. Studies on familial predisposition suggest that genetic plays a role in the pathogenesis of rotator cuff disea...

    Authors: Umile Giuseppe Longo, Vincenzo Candela, Alessandra Berton, Giuseppe Salvatore, Andrea Guarnieri, Joseph DeAngelis, Ara Nazarian and Vincenzo Denaro

    Citation: BMC Medical Genetics 2019 20:149

    Content type: Research article

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  35. Single nucleotide polymorphisms (SNPs) in several CYP genes have been associated with altered breast cancer (BC) risk in different populations. Despite this, there is a dearth of information on the roles of th...

    Authors: Laith N. AL-Eitan, Doaa M. Rababa’h, Mansour A. Alghamdi and Rame H. Khasawneh

    Citation: BMC Medical Genetics 2019 20:148

    Content type: Research article

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  36. Various studies have investigated the relationship between the polymorphism, rs2596542, in the promoter of the major histocompatibility complex class I-related gene A (MICA) gene with susceptibility to hepatitis ...

    Authors: Xiaojun Luo, Yu Wang, Ai Shen, Hejun Deng and Min Ye

    Citation: BMC Medical Genetics 2019 20:142

    Content type: Research article

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  37. This meta-analysis was performed to evaluate the relationship between hypoxia-inducible factor-1α (HIF1α) 1790G/A gene polymorphism and the susceptibility to renal cell carcinoma (RCC) and prostate cancer (PCa).

    Authors: Hong-Yan Li, Tianbiao Zhou, Wenshan Lin, Shujun Lin and Hongzhen Zhong

    Citation: BMC Medical Genetics 2019 20:141

    Content type: Research article

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  38. Severe malarial anemia (SMA) is a leading cause of malaria-related morbidity and mortality in children. The genetic factors that influence development of SMA and inefficient erythropoiesis, a central pathogeni...

    Authors: Lily E. Kisia, Prakasha Kempaiah, Samuel B. Anyona, Elly O. Munde, Angela O. Achieng, John M. Ong’echa, Christophe G. Lambert, Kiprotich Chelimo, Collins Ouma, Douglas J. Perkins and Evans Raballah

    Citation: BMC Medical Genetics 2019 20:140

    Content type: Research article

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  39. Phenylketonuria (PKU) is an autosomal recessive genetic disease, caused by the phenylalanine hydroxylase (PAH) deficiency in the metabolic pathway, which prevents phenylalanine from being converted into tyrosi...

    Authors: Xin Zhang, Huan-Xin Chen, Chuan Li, Gui Zhang, Sheng-Yun Liao, Zhuo-chun Peng, Xiao-Ping Lai and Ling-Li Wang

    Citation: BMC Medical Genetics 2019 20:135

    Content type: Research article

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  40. Several studies have been performed to investigate the associations between interleukin (IL)-8 rs4073 polymorphism and acute pancreatitis (AP), but the results are inconclusive. We conducted this cumulative me...

    Authors: Yening Li, Jing Bai, Bing He, Nan Wang, Haoran Wang and Dongliang Liu

    Citation: BMC Medical Genetics 2019 20:129

    Content type: Research article

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  41. The mitochondrial genotype 5178 cytosine/adenine (5178 C > A) within the NADH dehydrogenase subunit-2 gene (ND2) was proved to associate with longevity and predispose resistance to adult-onset diseases. This s...

    Authors: Xi Chen, Xiang-Yu He, Chao Zhu, Yusong Zhang, Zongbin Li, Yuqi Liu, Yuxiao Zhang, Tong Yin and Yang Li

    Citation: BMC Medical Genetics 2019 20:121

    Content type: Research article

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  42. Preterm birth is a significant clinical problem and an enormous burden on society, affecting one in eight pregnant women and their newborns. Despite decades of research, the molecular mechanism underlying its ...

    Authors: Jessica Schuster, Alper Uzun, Joan Stablia, Christoph Schorl, Mari Mori and James F. Padbury

    Citation: BMC Medical Genetics 2019 20:116

    Content type: Research article

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  43. This meta-analysis was conducted to assess the relationship between the transforming growth factor-beta 1 (TGF-β1) + 869 T/C gene polymorphism, + 915 G/C gene polymorphism, and the susceptibility of acute reje...

    Authors: Hong-Yan Li, Tianbiao Zhou, Shujun Lin and Wenshan Lin

    Citation: BMC Medical Genetics 2019 20:113

    Content type: Research article

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