Zhao, Yimin Li, Yueying Zhuang, Zhenhuang Song, Zimin Wang, Wenxiu Huang, Ninghao Dong, Xue Xiao, Wendi Jia, Jinzhu Liu, Zhonghua
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Published in
Diabetologia
We aimed to investigate the association between polysocial risk score (PsRS), an estimator of individual-level exposure to cumulative social risks, and incident type 2 diabetes in the UK Biobank study. This study includes 319,832 participants who were free of diabetes, cardiovascular disease and cancer at baseline in the UK Biobank study. The PsRS ...
Kleinbongard, Petra Lieder, Helmut Raphael Skyschally, Andreas Alloosh, Mouhamad Gödecke, Axel Rahmann, Sven Sturek, Michael Heusch, Gerd
Published in
Basic research in cardiology
The translation of successful preclinical and clinical proof-of-concept studies on cardioprotection to the benefit of patients with reperfused acute myocardial infarction has been difficult so far. This difficulty has been attributed to confounders which patients with myocardial infarction typically have but experimental animals usually not have. T...
Foss-Skiftesvik, Jon Stoltze, Ulrik Kristoffer
Published in
Acta neurochirurgica
Historically, few pediatric central nervous system (CNS) tumors were thought to result from genetic predisposition. However, within the last decade, new DNA sequencing methods have led to an increased recognition of high-risk cancer predisposition syndromes in children with CNS tumors. Thus, genetic predisposition is increasingly impacting clinical...
Daguano Gastaldi, Vinicius Bh Wilke, Justus Weidinger, Cosima A Walter, Carolin Barnkothe, Nadine Teegen, Bianca Luessi, Felix Stöcker, Winfried Lühder, Fred Begemann, Martin
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Published in
Brain, behavior, and immunity
Circulating autoantibodies (AB) against brain-antigens, often deemed pathological, receive increasing attention. We assessed predispositions and seroprevalence/characteristics of 49 AB in > 7000 individuals. Exploratory cross-sectional cohort study, investigating deeply phenotyped neuropsychiatric patients and healthy individuals of GRAS Data Colle...
Anurat, Kingthong Watcharakuldilok, Piangor Sakpichaisakul, Kullasate Khongkhatithum, Chaiyos Mahasirimongkol, Surakameth Kunhapan, Punna Inunchot, Wimala Wattanapokayakit, Sukanya Munggaranonchai, Orathai Thampratankul, Lunliya
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Published in
Pediatric neurology
Anti-N-methyl-d-aspartate receptor encephalitis (anti-NMDARE) is one of the most common types of autoimmune encephalitis. Most patients have no apparent immunologic triggers, which suggests a genetic predisposition. This study was conducted to identify human leukocyte antigen (HLA) class II alleles associated with anti-NMDARE in Thai children. This...
Bafligil, Cemsel Thompson, Deborah J Lophatananon, Artitaya Ryan, Neil A J Smith, Miriam J Dennis, Joe Mekli, Krisztina O'Mara, Tracy A Evans, D Gareth Crosbie, Emma J
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Published in
Genetics in medicine : official journal of the American College of Medical Genetics
Single-nucleotide variations (SNVs) (formerly single-nucleotide polymorphism [SNV]) influence genetic predisposition to endometrial cancer. We hypothesized that a polygenic risk score (PRS) comprising multiple SNVs may improve endometrial cancer risk prediction for targeted screening and prevention. We developed PRSs from SNVs identified from a sys...
Mitsui, Yozo Kobayashi, Hideyuki Yamabe, Fumito Nakajima, Koichi Nagao, Koichi
Published in
The world journal of men's health
Although multiple mechanisms associated with Peyronie's disease (PD) have been proposed, details regarding etiologic factors, especially genetic, remain unclear. We examined the relationship of the ABO blood type system, known as a genetic factor associated with susceptibility to a number of diseases, with PD in Japanese males. We compared 202 Japa...
Donda, Keyur Torres, Benjamin A Maheshwari, Akhil
Published in
Newborn (Clarksville, Md.)
The incomplete understanding of the etiopathogenesis of necrotizing enterocolitis (NEC) contributes to the lack of timely diagnosis and limited therapeutic options. Non-coding RNAs (ncRNAs) have emerged as key regulators of gene expression in various pathways that can modulate various physiological and pathological processes. Despite several studie...
Qu, Shiqiang Zhang, Donglei Xu, Zefeng Jia, Yujiao Qin, Tiejun Pan, Lijuan Cai, Wenyu Zhang, Yudi Gale, Robert Peter Xiao, Zhijian
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Published in
Leukemia Research Reports
The 2016 revised World Health Organization classification identified myeloid neoplasms with germline predisposition as a new diagnostic category. Germline loss-of-function mutations in G6b (G6b-B, C6orf25 or MPIG6B) are associated with congenital macro-thrombocytopenia with focal myelofibrosis, a rare autosomal recessive disease. It is unclear whet...
Fox, Stephen Campbell, Ian Bowtell, David Chenevix-Trench, Georgia Spurdle, Amanda Webb, Penny de Fazio, Anna Tassell, Margaret Kirk, Judy Lindeman, Geoff
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Published in
Breast Cancer Research
BackgroundGenome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants have differential associations by estrogen receptor (ER) status, but how these variants relate with other tumor features and intrinsic molecular subtypes is unclear.MethodsAmong 106,571 invasive breast cance...
