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  1. This article intends to explore the association between interleukin-6 gene (IL-6) -174 G/C single nucleotide polymorphism (SNP) and the risk and mortality of sepsis by conducting this updated meta-analysis with t...

    Authors: Yao Chen, Yanyan Hu and Zhenju Song

    Citation: BMC Medical Genetics 2019 20:35

    Content type: Research article

    Published on:

  2. 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

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  3. 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

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  4. Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undeg...

    Authors: Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi…

    Citation: BMC Medical Genetics 2019 20:31

    Content type: Research article

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  5. Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1). Here we identified that a ...

    Authors: Na Shen, Ting Wang, Delei Li, Aiguo Liu and Yanjun Lu

    Citation: BMC Medical Genetics 2019 20:30

    Content type: Case report

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  6. 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

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  8. 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

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  9. 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

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  10. 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

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  11. 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

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  12. 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

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  13. 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

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  14. 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

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  15. 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

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  16. 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

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  17. Progressive familial intrahepatic cholestasis (PFIC) is a group of genetic autosomal recessive disorders that predominantly affects young children and results in early-onset progressive liver damage. Several t...

    Authors: Ting Ge, Xinyue Zhang, Yongmei Xiao, Yizhong Wang and Ting Zhang

    Citation: BMC Medical Genetics 2019 20:18

    Content type: Case report

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  18. 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

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  19. KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associ...

    Authors: Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius…

    Citation: BMC Medical Genetics 2019 20:16

    Content type: Case report

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  20. Autosomal recessive nail dysplasia is characterized by thick and hard nails with a very slow growth on the hands and feet. Mutations in FZD6 gene were found to be associated with autosomal recessive nail dysplasi...

    Authors: Ceren Saygı, Yasemin Alanay, Uğur Sezerman, Aslı Yenenler and Nesrin Özören

    Citation: BMC Medical Genetics 2019 20:15

    Content type: Research article

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  21. 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

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  22. Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age ...

    Authors: Fateme Ziyaee, Eslam Shorafa, Hassan Dastsooz, Parham Habibzadeh, Hamid Nemati, Amir Saeed, Mohammad Silawi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi and Seyed Alireza Dastgheib

    Citation: BMC Medical Genetics 2019 20:13

    Content type: Case report

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  23. Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism.

    Authors: Mohammad M. Al-Qattan, Abdulaziz Jarman, Atif Rafique, Zuhair N. Al-Hassnan and Heba M. Al-Qattan

    Citation: BMC Medical Genetics 2019 20:12

    Content type: Case report

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  24. Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia and optic atrophy. MTS is caused by variations in the nucle...

    Authors: Hongyang Wang, Li Wang, Ju Yang, Linwei Yin, Lan Lan, Jin Li, Qiujing Zhang, Dayong Wang, Jing Guan and Qiuju Wang

    Citation: BMC Medical Genetics 2019 20:11

    Content type: Research article

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  25. 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

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  26. The interactive effect of the IGF pathway genes with the environment may contribute to childhood obesity. Such gene-environment interactions can take on complex forms. Detecting those relationships using longi...

    Authors: Cheng Wang, Marie-Hélène Roy-Gagnon, Jean-François Lefebvre, Kelly M. Burkett and Lise Dubois

    Citation: BMC Medical Genetics 2019 20:9

    Content type: Research article

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  27. Acanthosis nigricans (AN) is a clinical manifestation featured by velvety brown plaques in skin folds that occurs in some hereditary and syndromic disorders. Fibroblast growth factor receptor 3 (FGFR3) mutations ...

    Authors: Junling Fu, Yiting Zhao, Tong Wang, Qian Zhang and Xinhua Xiao

    Citation: BMC Medical Genetics 2019 20:8

    Content type: Case report

    Published on:

  28. 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

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  29. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis type 1 is an autosomal recessive disease characterized by excessive renal magnesium and calcium excretion, bilateral nephrocalcinosis, and prog...

    Authors: Ana Perdomo-Ramirez, Marian de Armas-Ortiz, Elena Ramos-Trujillo, Lorena Suarez-Artiles and Felix Claverie-Martin

    Citation: BMC Medical Genetics 2019 20:6

    Content type: Research article

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  31. Klinefelter syndrome (KS) is characterized by the presence of at least one supernumerary X chromosome. KS typical symptoms include tall stature, gynecomastia, hypogonadism and azoospermia. KS patients show a h...

    Authors: Michele Salemi, Rossella Cannarella, Rosita A. Condorelli, Laura Cimino, Federico Ridolfo, Giorgio Giurato, Corrado Romano, Sandro La Vignera and Aldo E. Calogero

    Citation: BMC Medical Genetics 2019 20:4

    Content type: Research article

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  32. Tandem mass spectrometry (MS MS) and simple fluorometric assays are currently used in newborn screening programs to detect inborn errors of metabolism (IEM). The aim of the study was to evaluate the clinical u...

    Authors: Wenjie Wang, Jianping Yang, Jinjie Xue, Wenjuan Mu, Xiaogang Zhang, Wang Wu, Mengnan Xu, Yuyan Gong, Yiqian Liu, Yu Zhang, Xiaobing Xie, Weiyue Gu, Jigeng Bai and David S. Cram

    Citation: BMC Medical Genetics 2019 20:3

    Content type: Research article

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  33. Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the association of preeclampsia with thrombophilia in Africa including Sudan.

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

    Citation: BMC Medical Genetics 2019 20:2

    Content type: Research article

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  34. Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes. Approximately 60% of CdLS patients harbor various NIPBL var...

    Authors: Natalia Krawczynska, Jolanta Wierzba, Jacek Jasiecki and Bartosz Wasag

    Citation: BMC Medical Genetics 2019 20:1

    Content type: Case report

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  35. Several studies have investigated the molecular drivers and therapeutic targets in adult soft tissue sarcomas. However, such studies are limited by the genomic heterogeneity and rarity of sarcomas, particularl...

    Authors: Jihyun Kim, June Hyuk Kim, Hyun Guy Kang, Seog Yun Park, Jung Yeon Yu, Eun Young Lee, Sung Eun Oh, Young Ho Kim, Tak Yun, Charny Park, Soo Young Cho and Hye Jin You

    Citation: BMC Medical Genetics 2018 19(Suppl 1):216

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 19 Supplement 1

  36. Alzheimer’s disease (AD) and Parkinson’s disease (PD) are the top two common neurodegenerative diseases in elderly. Recent studies found the α-synuclein have a key role in AD. Although many clinical and pathol...

    Authors: Zhifa Han, Rui Tian, Peng Ren, Wenyang Zhou, Pingping Wang, Meng Luo, Shuilin Jin and Qinghua Jiang

    Citation: BMC Medical Genetics 2018 19(Suppl 1):215

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 19 Supplement 1

  37. Trichothiodystrophy nonphotosensitive 1 (TTDN1) is a disease with mental retardation, brittle hair. Some cases of the diseases are caused by mutations of the MPLKIP gene.

    Authors: Yi-Kun Zhou, Xiao-Chun Yang, Yang Cao, Heng Su, Li Liu, Zhi Liang and Yun Zheng

    Citation: BMC Medical Genetics 2018 19(Suppl 1):214

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 19 Supplement 1

  38. Fabry disease is an X-linked recessive lysosomal disorder caused by deficient enzymatic activity of α-galactosidase A (α-Gal A). The insufficient enzymatic activity leads to excessive accumulation of glycosphi...

    Authors: Chi Zhou, Jin Huang, Guanglin Cui, Hesong Zeng, Dao Wen Wang and Qiang Zhou

    Citation: BMC Medical Genetics 2018 19:219

    Content type: Research article

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  39. Thoracic aortic aneurysm and dissection (TAAD) is a common condition associated with high mortality. It is predominantly inherited in an autosomal dominant manner with reduced penetrance and variable expressio...

    Authors: Wenwen Zhang, Qian Han, Zhao Liu, Wei Zhou, Qing Cao and Weimin Zhou

    Citation: BMC Medical Genetics 2018 19:218

    Content type: Case report

    Published on:

  40. The incidence of RC tears increases with aging, affecting approximately 30 to 50% of individuals older than 50 years, and more than 50% of individuals older than 80 years. Intrinsic factors (age or gender), ex...

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

    Citation: BMC Medical Genetics 2018 19:217

    Content type: Research article

    Published on:

  41. The aim of this study was to investigate the occupational stress and hypertension in desert petroleum workers in Xinjiang, and to analyze the association of occupational stress and glucocorticoid receptor (GR)...

    Authors: Ning Tao, Hua Ge, Wenfeng Wu, Hengqing An, Jiwen Liu and Xinjuan Xu

    Citation: BMC Medical Genetics 2018 19:213

    Content type: Research article

    Published on:

  42. Dwarfism is a common severe growth disorder, but the etiology is unclear in the majority of cases. Recombinant human growth hormone may be a treatment option, but it has limited efficacy. The currently known l...

    Authors: Lulu Yang, Chenhui Zhang, Wei Wang, Junqi Wang, Yuan Xiao, Wenli Lu, Xiaoyu Ma, Lifen Chen, Jihong Ni, Defen Wang, Jinxiu Shi and Zhiya Dong

    Citation: BMC Medical Genetics 2018 19:212

    Content type: Research article

    Published on:

  43. Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial and skeletal abnormalities, while non-ossifying fibroma (NOF) is a common benign ...

    Authors: Weijuan Su, Xiulin Shi, Mingzhu Lin, Caoxin Huang, Liying Wang, Haiqu Song, Yanzhen Zhuang, Haifang Zhang, Nanzhu Li and Xuejun Li

    Citation: BMC Medical Genetics 2018 19:211

    Content type: Case report

    Published on:

  44. Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Although a total of 417 disease-causing mutations in OTC have been...

    Authors: Katsuyuki Yokoi, Yoko Nakajima, Hidehito Inagaki, Makiko Tsutsumi, Tetsuya Ito and Hiroki Kurahashi

    Citation: BMC Medical Genetics 2018 19:210

    Content type: Case report

    Published on:

  45. Hypohidrotic ectodermal dysplasia (HED) is a common recessive X-linked hereditary disease that affects the development of ectoderm. Gene mutations of ectodysplasin A (EDA) play key roles in process of this dis...

    Authors: Fangqi He, Hongfeng Wang, Xiaoyu Zhang, Qingping Gao, Feng Guo and Chang Chen

    Citation: BMC Medical Genetics 2018 19:209

    Content type: Research article

    Published on:

  46. Thoracic aortic aneurysm (TAA) and/or thoracic aortic aneurysm and dissection (TAAD) is characterized by a considerable risk of morbidity and mortality of affected individuals. It is inherited in an autosomal ...

    Authors: Anna Keravnou, Evy Bashiardes, Kyriaki Michailidou, Marinos Soteriou, Areti Moushi and Marios Cariolou

    Citation: BMC Medical Genetics 2018 19:208

    Content type: Case report

    Published on:

  47. The genetics of fetal insulin release and/or action have been suggested to affect fetal growth, adult insulin resistance and adult body composition. The genetic correlation between body composition at birth ve...

    Authors: Mette Hollensted, Claus T. Ekstrøm, Oluf Pedersen, Hans Eiberg, Torben Hansen and Anette Prior Gjesing

    Citation: BMC Medical Genetics 2018 19:207

    Content type: Research article

    Published on:

  49. The objective of this study was to examine individual and community factors that influence high-density lipoprotein cholesterol (HDL-C) dyslipidemia in Newfoundland and Labrador (NL), a genetically isolated po...

    Authors: Erfan Aref-Eshghi, Oliver Hurley, Guang Sun, Alvin Simms, Marshall Godwin, Pauline Duke, Mehdee Araee, Masoud Mahdavian and Shabnam Asghari

    Citation: BMC Medical Genetics 2018 19:205

    Content type: Research article

    Published on:

  50. Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in ...

    Authors: Xing Wu, Lanlan Chen, Yixin Zhang, Hainan Xie, Meirong Xue, Yi Wang and Houbin Huang

    Citation: BMC Medical Genetics 2018 19:204

    Content type: Research article

    Published on:

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