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  1. Linkage Disequilibrium Score Statistic Regression for Identifying Novel Trait Associations

    Purpose of Review

    In this paper, we review the linkage disequilibrium score regression (LDSR) statistical method for computing correlation and shared...

    Rowland W. Pettit, Christopher I. Amos in Current Epidemiology Reports
    Article 24 June 2022
  2. Linkage and association of variants in the dopamine receptor 2 gene (DRD2) with polycystic ovary syndrome

    Polycystic ovarian syndrome (PCOS) is a disorder with a foundation of neuroendocrine dysfunction, characterized by increased gonadotropin-releasing...

    Mutaz Amin, Nicholas Horst, Claudia Gragnoli in Journal of Ovarian Research
    Article Open access 10 August 2023
  3. Novel corticotropin-releasing hormone receptor genes (CRHR1 and CRHR2) linkage to and association with polycystic ovary syndrome

    Background

    Women with polycystic ovarian syndrome (PCOS) have increased hypothalamic–pituitary–adrenal (HPA) axis activation, pro-inflammatory...

    Mutaz Amin, Nicholas Horst, ... Claudia Gragnoli in Journal of Ovarian Research
    Article Open access 05 August 2023
  4. DNMT1 SNPs (rs2114724 and rs2228611) associated with positive symptoms in Chinese patients with schizophrenia

    Objective

    Schizophrenia is a serious mental disorder with complex clinical manifestations, while its pathophysiological mechanism is not fully...

    Junjiao **, **g Wan, ... Jie Zhang in Annals of General Psychiatry
    Article Open access 13 October 2023
  5. The melatonin receptor genes are linked and associated with the risk of polycystic ovary syndrome

    Polycystic ovarian syndrome (PCOS) is a genetically complex disorder that involves the interplay of multiple genes and environmental factors. It is...

    Teodor T. Postolache, Qamar M. Al Tinawi, Claudia Gragnoli in Journal of Ovarian Research
    Article Open access 13 January 2024
  6. The glucocorticoid receptor gene (NR3C1) is linked to and associated with polycystic ovarian syndrome in Italian families

    Objectives

    Components of the hypothalamic-pituitary axis (HPA) pathway are potential mediators of the genetic risk of polycystic ovarian syndrome...

    Shumail Syed, Claudia Gragnoli in Journal of Ovarian Research
    Article Open access 12 January 2024
  7. LD block disorder-specific pleiotropic roles of novel CRHR1 in type 2 diabetes and depression disorder comorbidity

    Major depressive disorder (MDD) and type 2 diabetes (T2D) are complex disorders whose comorbidity can be due to hypercortisolism and may be explained...

    Laura del Bosque-Plata, Mutaz Amin, ... Claudia Gragnoli in European Archives of Psychiatry and Clinical Neuroscience
    Article Open access 14 December 2023
  8. Fluoropyrimidine-associated toxicity and DPYD variants c.85T>C, c.496A>G, and c.1236G>A: impact of haplotype

    Dihydropyrimidine dehydrogenase ( DPYD ) is the rate-limiting step in fluoropyrimidines metabolism. Currently, genotype-guided fluoropyrimidine dosing...

    Samantha Medwid, Theodore J. Wigle, Richard B. Kim in Cancer Chemotherapy and Pharmacology
    Article 10 November 2022
  9. LEP (G2548A-G19A) and ADIPOQ (T45G-G276T) gene polymorphisms are associated with markers for metabolic syndrome

    Background and aims

    There is a link between genetics with metabolic balance and adiposity homeostasis on metabolic syndrome (MetS). Polymorphism in...

    Fred Luque Ortega, Alejandra Martínez Camberos, ... Eliakym Arámbula Meraz in Diabetology & Metabolic Syndrome
    Article Open access 17 November 2023
  10. The association of APOH and NCF1 polymorphisms on susceptibility to recurrent pregnancy loss in women with antiphospholipid syndrome

    Background

    Recurrent pregnancy loss (RPL) is the main manifestation of pathological pregnancy in antiphospholipid syndrome (APS) women. The immune...

    Xu**g Deng, Qing Sang, ... Shihua Bao in Journal of Assisted Reproduction and Genetics
    Article 27 May 2023
  11. Association study of FLT4 and HYDIN single nucleotide polymorphisms with atrial septal defect susceptibility in the Han Chinese population of Southwest China

    Background

    Atrial septal defect (ASD) is a common form of congenital heart disease. Although several genes related to ASD have been found, the genetic...

    Ye **, Miao Zhao, ... Zhiling Luo in Italian Journal of Pediatrics
    Article Open access 05 April 2024
  12. A genetic correlation scan identifies blood proteins associated with bone mineral density

    Background

    Osteoporosis is a common metabolic bone disease that is characterized by low bone mass. However, limited efforts have been made to explore...

    Jiawen Xu, Shaoyun Zhang, ... Bin Shen in BMC Musculoskeletal Disorders
    Article Open access 03 June 2022
  13. Relationship between BDNF gene polymorphisms and alcohol-related liver cirrhosis

    Background and aim

    Brain-derived neurotrophic factor (BDNF) functions not only in the brain but also in peripheral tissues such as the liver. Genetic...

    Danil I. Peregud, Valeria Yu. Baronets, ... Natalia N. Terebilina in Egyptian Liver Journal
    Article Open access 25 October 2023
  14. Association between inflammatory bowel disease and cancer risk: evidence triangulation from genetic correlation, Mendelian randomization, and colocalization analyses across East Asian and European populations

    Background

    Inflammatory bowel disease (IBD), which includes Crohn’s disease (CD) and ulcerative colitis (UC), has been associated with several cancer...

    Di Liu, Meiling Cao, ... Youxin Wang in BMC Medicine
    Article Open access 25 March 2024
  15. Characterizing the polygenic overlap and shared loci between rheumatoid arthritis and cardiovascular diseases

    Background

    Despite substantial research revealing that patients with rheumatoid arthritis (RA) have excessive morbidity and mortality of...

    **aohui Sun, Yu Qian, ... Yingying Mao in BMC Medicine
    Article Open access 08 April 2024
  16. Genome-wide association study in 404,302 individuals identifies 7 significant loci for reaction time variability

    Reaction time variability (RTV), reflecting fluctuations in response time on cognitive tasks, has been proposed as an endophenotype for many...

    Olivia Wootton, Alexey A. Shadrin, ... Shareefa Dalvie in Molecular Psychiatry
    Article Open access 20 October 2023
  17. Proteomic insights into the associations between obesity, lifestyle factors, and coronary artery disease

    Background

    We aimed to investigate the protein pathways linking obesity and lifestyle factors to coronary artery disease (CAD).

    Methods ...
    Fangkun Yang, Fengzhe Xu, ... Shuai Yuan in BMC Medicine
    Article Open access 05 December 2023
  18. Elucidating the association of obstructive sleep apnea with brain structure and cognitive performance

    Background

    Obstructive sleep apnea (OSA) is a pervasive, chronic sleep-related respiratory condition that causes brain structural alterations and...

    Jiahao Bao, Zhiyang Zhao, ... Hongbo Yu in BMC Psychiatry
    Article Open access 06 May 2024
  19. Acute pancreatitis and metabolic syndrome: genetic correlations and causal associations

    Background

    Although there is a definite correlation between the Metabolic Syndrome (MetS) and Acute Pancreatitis (AP), cause is yet unknown. The...

    Zhu Shuang**g, Ding Zhen in Endocrine
    Article 03 November 2023
  20. Genetically predicted effects of physical activity and sedentary behavior on myasthenia gravis: evidence from mendelian randomization study

    Background

    Myasthenia gravis (MG) is an autoimmune disorder affecting the neuromuscular junction. Despite the potential benefits of higher physical...

    Jiao Li, Fei Wang, ... Haijie Liu in BMC Neurology
    Article Open access 11 August 2023
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