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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. 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 Published on:

  2. 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 Published on:

  3. 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 Published on:

  4. 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 Published on:

  5. 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 Published on:

  6. 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 Published on:

  7. 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 Published on:

  8. 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 Published on:

  9. 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 Published on:

  10. 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 Published on:

  11. Focal segmental glomerulosclerosis (FSGS) is still one of the common causes of refractory nephrotic syndrome. Nephrin, encoded by podocyte-specific NPHS1 gene, participated in the pathogenesis of FSGS. The sit...

    Authors: Ling Zhuo, Lulin Huang, Zhenglin Yang, Guisen Li and Li Wang
    Citation: BMC Medical Genetics 2019 20:111
    Content type: Research article Published on:

  12. Gallstone disease (GSD) is a common biliary tract disease worldwide. Previous studies have investigated the association of apolipoprotein E (APOE) E4 with GSD and reported inconsistent results.

    Authors: Lizhuo Li, Xin Qiao, Xia Wang, Di Liu, Qingmu Xue, Lu Han, Fei Dai, Guomin Ma, Zhipeng Yang, Tao Zhang, Shuo Yang, Shikang Cai, Mingyue Gao and Jingyun Yang
    Citation: BMC Medical Genetics 2019 20:109
    Content type: Research article Published on:

  13. Type 2 diabetes mellitus is believed to be a polygenic disorder that develops as a result of a complex interaction between multiple genes and environmental factors. KCNJ11 gene encodes a Kir6.2 protein which f...

    Authors: Osama Makhzoom, Younes Kabalan and Faizeh AL-Quobaili
    Citation: BMC Medical Genetics 2019 20:107
    Content type: Research article Published on:

  14. A multidirectional relationship has been demonstrated between myocardial infarction (MI) and depression. However, the causal genetic factors and molecular mechanisms underlying this interaction remain unclear....

    Authors: Zhenguo Dai, Qian Li, Guang Yang, Yini Wang, Yang Liu, Zhilei Zheng, Yingfeng Tu, Shuang Yang and Bo Yu
    Citation: BMC Medical Genetics 2019 20:104
    Content type: Research article Published on:

  15. Multiple factors are implicated in the etiology and pathogenesis of Abdominal Aortic Aneurysms (AAA). Available literature of genetic studies has previously suggested the possible roles of autoimmunity, geneti...

    Authors: Javier E. Anaya-Ayala, Susana Hernandez-Doño, Monica Escamilla-Tilch, Jose Marquez-Garcia, Kemberly Hernandez-Sotelo, Rodrigo Lozano-Corona, Daniela Ruiz-Gomez, Julio Granados and Carlos A. Hinojosa
    Citation: BMC Medical Genetics 2019 20:102
    Content type: Research article Published on:

  16. Cervical cancer has high prevalence and mortality rates in worldwide female population. Persistent infection by high-risk Human Papillomavirus (hr-HPV) is the main cause of this cancer. However, many environme...

    Authors: Nayara Nascimento Toledo Silva, Adriano de Paula Sabino, Alexandre Tafuri and Angélica Alves Lima
    Citation: BMC Medical Genetics 2019 20:100
    Content type: Research article Published on:

  17. Metabolic syndrome (MetS), defined as a cluster of metabolic risk factors including dyslipidemia, insulin-resistance, and elevated blood pressure, has been known as partly heritable. MetS effects the lives of ...

    Authors: Sokanha Kong and Yoon Shin Cho
    Citation: BMC Medical Genetics 2019 20:99
    Content type: Research article Published on:

  18. There are several studies with inconsistent conclusions regarding the association between the rs1801133 and rs1801131 polymorphisms within the MTHFR (methylenetetrahydrofolate reductase) gene and colorectal polyp...

    Authors: Manyi Sun, Jin Zhong, Li Zhang and Songli Shi
    Citation: BMC Medical Genetics 2019 20:94
    Content type: Research article Published on:

  20. Cystic fibrosis has been largely under-diagnosed and thus, limited data is available on the incidence of cystic fibrosis in Sri Lanka. Our aim is to describe the phenotypic and genotypic spectrum of children w...

    Authors: Neluwa Liyanage Ruwan Indika, Dinesha Maduri Vidanapathirana, Hewa Warawitage Dilanthi, Grace Angeline Malarnangai Kularatnam, Nambage Dona Priyani Dhammika Chandrasiri and Eresha Jasinge
    Citation: BMC Medical Genetics 2019 20:89
    Content type: Case report Published on:

  22. The association between the vitamin D receptor (VDR) gene and gestational diabetes mellitus (GDM) has not been investigated in Turkish pregnant women. We aimed to investigate associations between VDR gene BsmI (r...

    Authors: Mahmut Apaydın, Selvihan Beysel, Nilnur Eyerci, Ferda Alparslan Pinarli, Mustafa Ulubay, Muhammed Kizilgul, Ozhan Ozdemir, Mustafa Caliskan and Erman Cakal
    Citation: BMC Medical Genetics 2019 20:82
    Content type: Research article Published on:

  23. Hereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in “novel” genes as confe...

    Authors: Mir Ali, Celia Dawn Delozier and Uzair Chaudhary
    Citation: BMC Medical Genetics 2019 20:75
    Content type: Case report Published on:

  24. Genome wide association study (GWAS) has become the major means to screen for the genetic variants associated with risk and prognosis of different diseases. A recent GWAS has discovered three novel intronic si...

    Authors: Jiru Wang, Qiuzi Wang, Bin Wei, Yu Zhou, Zhaoye Qian, Yong Gao and Xiaofei Chen
    Citation: BMC Medical Genetics 2019 20:72
    Content type: Research article Published on:

  25. Although familial clustering of cancers is relatively common, only a small proportion of familial cancer risk can be explained by known cancer predisposition genes.

    Authors: Rachel M. Jones, Phillip E. Melton, Mark Pinese, Alexander J. Rea, Evan Ingley, Mandy L. Ballinger, David J. Wood, David M. Thomas and Eric K. Moses
    Citation: BMC Medical Genetics 2019 20:69
    Content type: Research article Published on:

  26. Several studies have focused on the association between KIF1B rs17401966 polymorphism and susceptibility to hepatitis B virus-related (HBV-related) hepatocellular carcinoma (HCC), but the conclusions have been...

    Authors: Ying-ying Luo, Hong-peng Zhang, Ai-long Huang and Jie-li Hu
    Citation: BMC Medical Genetics 2019 20:59
    Content type: Research article Published on:

  27. The chitinase-like protein YKL-40 plays a major role in inhibiting the inflammasome. Deregulation of inflammasome activation is emerging as a key modulator of pathologic airway inflammation in patients with as...

    Authors: Jun Kanazawa, Haruna Kitazawa, Hironori Masuko, Yohei Yatagai, Tohru Sakamoto, Yoshiko Kaneko, Hiroaki Iijima, Takashi Naito, Takefumi Saito, Emiko Noguchi, Satoshi Konno, Masaharu Nishimura, Tomomitsu Hirota, Mayumi Tamari and Nobuyuki Hizawa
    Citation: BMC Medical Genetics 2019 20:58
    Content type: Research article Published on:

  28. RNF213 rare variant-p.R4810K (rs112735431) was significantly associated with intracranial artery stenosis/occlusion disease (ICASO) in Japan and Korea and to a lesser degree in China. Considering the allelic hete...

    Authors: Xin Liao, Tong Zhang, Bingyang Li, Shimin Hu, Junyu Liu, Jing Deng, Hongzhuan Tan and Junxia Yan
    Citation: BMC Medical Genetics 2019 20:55
    Content type: Research article Published on:

  29. Primary cutaneous malignant melanoma is a cancer of the pigment cells of the skin, some of which are accompanied by BRAF mutation. Melanoma incidence and mortality rates have been rising around the world. As the ...

    Authors: Bin Zhao, Yanqiu You, Zheng Wan, Yunhan Ma, Yani Huo, Hongyi Liu, Yuanyuan Zhou, Wei Quan, Weibin Chen, Xiaohong Zhang, Fujun Li and Yilin Zhao
    Citation: BMC Medical Genetics 2019 20:54
    Content type: Research article Published on:

  31. Cystic fibrosis (CF; OMIM #219700) is a common autosomal recessive disease caused by pathogenic variants (henceforward mutations) in the cystic fibrosis transmembrane conductance regulator gene (CFTR). The spectr...

    Authors: N. V. Petrova, N. Y. Kashirskaya, D. K. Saydaeva, A. V. Polyakov, T.A. Adyan, O. I. Simonova, Y. V. Gorinova, E. I. Kondratyeva, V. D. Sherman, O. G. Novoselova, T. A. Vasilyeva, A. V. Marakhonov, M. Macek Jr, E. K. Ginter and R. A. Zinchenko
    Citation: BMC Medical Genetics 2019 20:44
    Content type: Research article Published on:

  32. Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior subc...

    Authors: Qi Fan, Dan Li, Lei Cai, Xiaodi Qiu, Zhennan Zhao, Jihong Wu, Jin Yang and Yi Lu
    Citation: BMC Medical Genetics 2019 20:42
    Content type: Research article Published on:

  33. 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 Published on:

  34. 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 Published on:

  35. 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 Published on:

  36. 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 Published on:

  37. 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 Published on:

  38. 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 Published on:

  39. 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 Published on:

  40. 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 Published on:

  41. 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 Published on:

  42. 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 Published on:

  43. 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 Published on:

  44. 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 Published on:

  45. 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 Published on:

  46. 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 Published on:

  47. 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 Published on:

  48. 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 Published on:

  49. 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 Published on:

  50. 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 Published on:

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