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BMC Medical Genetics

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https://www.readbyqxmd.com/read/28915859/the-fto-gene-polymorphism-is-associated-with-metabolic-syndrome-risk-in-egyptian-females-a-case-control-study
#1
Mina S Khella, Nadia M Hamdy, Ashraf I Amin, Hala O El-Mesallamy
BACKGROUND: Variations within fat mass and obesity associated (FTO) gene had crosstalk with obesity risk in European and some Asian populations. This study was designed to investigate FTO rs9939609 association with metabolic syndrome (MetS) as well as biochemical parameters as plasma glucose, serum triacylglycerol (TAG), total cholesterol (TC) and transaminases enzymes in Arab female population from Egypt. METHODS: In order to achieve that, FTO gene rs9939609 (A < T) was genotyped using TaqMan SNP Genotyping Assay in a total of 197 females which were enrolled in this study...
September 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28915855/massive-parallel-sequencing-as-a-new-diagnostic-approach-for-phenylketonuria-and-tetrahydrobiopterin-deficiency-in-thailand
#2
Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk
BACKGROUND: Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4) biosynthesis pathway. Dietary restriction of phenylalanine is considered to be the main treatment of PKU to prevent irreversible intellectual disability. However, the same dietary intervention in BH4 deficiency patients is not as effective, as BH4 is also a cofactor in many neurotransmitter syntheses...
September 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28903744/renin-angiotensin-system-gene-polymorphisms-and-high-blood-pressure-in-lithuanian-children-and-adolescents
#3
Sandrita Simonyte, Renata Kuciene, Jurate Medzioniene, Virginija Dulskiene, Vaiva Lesauskaite
BACKGROUND: Epidemiological studies have demonstrated the influence of environmental factors on HBP in the population of Lithuanian children, although the role of genetic factors in hypertension has not yet been studied. The aim of this study was to assess the distribution of AGTR1, AGT, and ACE genotypes in the Lithuanian child population and to determine whether these genotypes have an impact on HBP in childhood. METHODS: This cross-sectional study enrolled 709 participants aged 12-15 years...
September 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28903740/erratum-to-large-intragenic-deletion-of-cdc73-exons-4-10-in-a-three-generation-hyperparathyroidism-jaw-tumor-hpt-jt-syndrome-family
#4
Vito Guarnieri, Raewyn M Seaberg, Catherine Kelly, M Jean Davidson, Simon Raphael, Andrew Y Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N Hendy, David E C Cole
No abstract text is available yet for this article.
September 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28874128/relationship-of-genetic-causes-and-inhibin-b-in-non-obstructive-azoospermia-spermatogenic-failure
#5
Qing-Jun Chu, Rui Hua, Chen Luo, Qing-Jie Chen, Biao Wu, Song Quan, Yong-Tong Zhu
BACKGROUND: Chromosomal disorders in non obstructive azoospermia (NOA) may have an important influence on spermatogenesis, which may be reflected by the serum inhibin B levels. Till now, few studies have concerned the relationship of genetic causes and inhibin B in NOA. METHODS: In this retrospective study, 322 men with NOA in Center for Reproductive Medicine, Nanfang Hospital, Southern Medical University were collected. The level of follicle stimulating hormone (FSH), inhibin B, Y chromosome microdeletion test (YCMD) and karyotype were measured...
September 6, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28859624/living-kidney-transplantation-between-brothers-with-unrecognized-renal-amyloidosis-as-the-first-manifestation-of-familial-mediterranean-fever-a-case-report
#6
Ramón Peces, Sara Afonso, Carlos Peces, Julián Nevado, Rafael Selgas
BACKGROUND: Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to familial Mediterranean fever can lead to end-stage renal disease, culminating in kidney transplantation for some patients. In this study, we report the clinical outcome of two brothers with familial Mediterranean fever who were the inadvertent donor and recipient, respectively, of a kidney...
August 31, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28851325/novel-foxg1-mutations-in-chinese-patients-with-rett-syndrome-or-rett-like-mental-retardation
#7
Qingping Zhang, Jiaping Wang, Jiarui Li, Xinhua Bao, Ying Zhao, Xiaoying Zhang, Liping Wei, Xiru Wu
BACKGROUND: We aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR). METHODS: Four hundred and fifty-one patients were recruited, including 418 with RTT and 33 with RTT-like MR. Gene mutations were identified by a target capture method and verified by Sanger sequencing. RESULTS: Four FOXG1 mutations were detected in four patients (three with RTT and one with RTT-like MR), including one previously described mutation and three novel mutations...
August 29, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28851298/vitamin-d-receptor-gene-polymorphisms-in-association-with-diabetic-nephropathy-a-systematic-review-and-meta-analysis
#8
REVIEW
Lina Yang, Lan Wu, Yi Fan, Jianfei Ma
BACKGROUND: A large amount of researches have demonstrated that vitamin D receptor (VDR) gene polymorphisms are associated with diabetic nephropathy (DN) risk in diabetes mellitus (DM) patients. Nevertheless, the results are inconclusive and inconsistent. METHODS: We screened PubMed, Embase, Chinese National Knowledge Infrastructure and Chinese Wanfang databases for those relevant studies updated in May 2016. RESULTS: 7 studies involving 2564 subjects were recruited...
August 29, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28851297/an-a%C3%AE-globin-g-a-gene-polymorphism-associated-with-%C3%AE-0-39-thalassemia-globin-gene-and-high-fetal-hemoglobin-production
#9
Giulia Breveglieri, Nicoletta Bianchi, Lucia Carmela Cosenza, Maria Rita Gamberini, Francesco Chiavilli, Cristina Zuccato, Giulia Montagner, Monica Borgatti, Ilaria Lampronti, Alessia Finotti, Roberto Gambari
BACKGROUND: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea)...
August 29, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28851283/performance-of-risk-prediction-for-inflammatory-bowel-disease-based-on-genotyping-platform-and-genomic-risk-score-method
#10
Guo-Bo Chen, Sang Hong Lee, Grant W Montgomery, Naomi R Wray, Peter M Visscher, Richard B Gearry, Ian C Lawrance, Jane M Andrews, Peter Bampton, Gillian Mahy, Sally Bell, Alissa Walsh, Susan Connor, Miles Sparrow, Lisa M Bowdler, Lisa A Simms, Krupa Krishnaprasad, Graham L Radford-Smith, Gerhard Moser
BACKGROUND: Predicting risk of disease from genotypes is being increasingly proposed for a variety of diagnostic and prognostic purposes. Genome-wide association studies (GWAS) have identified a large number of genome-wide significant susceptibility loci for Crohn's disease (CD) and ulcerative colitis (UC), two subtypes of inflammatory bowel disease (IBD). Recent studies have demonstrated that including only loci that are significantly associated with disease in the prediction model has low predictive power and that power can substantially be improved using a polygenic approach...
August 29, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28835222/genome-wide-association-and-targeted-analysis-of-copy-number-variants-with-psoriatic-arthritis-in-german-patients
#11
Steffen Uebe, Maria Ehrlicher, Arif Bülent Ekici, Frank Behrens, Beate Böhm, Georg Homuth, Claudia Schurmann, Uwe Völker, Michael Jünger, Matthias Nauck, Henry Völzke, Heiko Traupe, Michael Krawczak, Harald Burkhardt, André Reis, Ulrike Hüffmeier
BACKGROUND: Psoriatic Arthritis (PsA) is a chronic inflammatory disease of the joints. PsA is etiologically complex, and 11 susceptibility loci have been identified so far. Most of these overlap with loci associated with psoriasis vulgaris (PsV), the most common psoriatic skin manifestation which is also frequently seen in PsA patients. In addition, two copy number variants (CNVs) are associated with PsV, one of which, located within the LCE3 gene cluster, is also associated with PsA...
August 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28830375/a-homozygous-missense-variant-in-hsd17b4-identified-in-a-consanguineous-chinese-han-family-with-type-ii-perrault-syndrome
#12
Kui Chen, Ke Yang, Su-Shan Luo, Chen Chen, Ying Wang, Yi-Xuan Wang, Da-Ke Li, Yu-Jie Yang, Yi-Lin Tang, Feng-Tao Liu, Jian Wang, Jian-Jun Wu, Yi-Min Sun
BACKGROUND: Perrault syndrome is a rare multisystem disorder that manifests with sensorineural hearing loss in both sexes, primary ovarian insufficiency in females and neurological features. The syndrome is heterogeneous both genetically and phenotypically. CASE PRESENTATION: We reported a consanguineous family (two affected sisters) with Perrault syndrome. The proband had the characteristics of Perrault syndrome: ovarian dysgenesis, bilateral hearing loss and obvious neurological signs...
August 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28830368/allelic-variants-in-vitamin-d-receptor-gene-are-associated-with-adiposity-measures-in-the-central-european-population
#13
Julie Bienertová-Vašků, Filip Zlámal, Aneta Pohořalá, Ondřej Mikeš, Monika Goldbergová-Pávková, Jan Novák, Zbyněk Šplíchal, Hynek Pikhart
BACKGROUND: There is an increasing body of evidence suggesting that vitamin D is involved in ethiopathogenesis of obesity and therefore the aim of the study was to investigate whether 5 selected SNPs in VDR (vitamin D receptor) gene are associated also with anthropometry in the obese and non-obese Central-European population. METHODS: A total of 882 Central European Caucasian individuals of Czech origin were recruited (n = 882, 232 M/650 F) and weight, height, BMI, lean body mass, fat mass, body fat, waist and hip circumference, waist-hip ratio (WHR) and skinfold thickness were measured...
August 22, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28826396/association-between-fat-mass-and-obesity-associated-fto-gene-rs9939609-a-t-polymorphism-and-polycystic-ovary-syndrome-a-systematic-review-and-meta-analysis
#14
REVIEW
Ai Ling Liu, Hui Jun Xie, Hong Yan Xie, Jun Liu, Jie Yin, Jin Song Hu, Cui Ying Peng
BACKGROUND: Up to now, numerous case-control studies have reported the associations between fat mass and obesity associated (FTO) gene rs9939609 A/T polymorphism and polycystic ovary syndrome (PCOS), however, without a consistent result. Hence we performed current systematic review and meta-analysis to clarify the controversial results. METHODS: Case-control studies reporting the relationship of rs9939609 A/T polymorphism and PCOS published before April 2015 were searched in Pubmed database without language restriction...
August 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28821283/gene-expression-profiling-of-idiopathic-interstitial-pneumonias-iips-identification-of-potential-diagnostic-markers-and-therapeutic-targets
#15
Yasushi Horimasu, Nobuhisa Ishikawa, Masaya Taniwaki, Kakuhiro Yamaguchi, Kosuke Hamai, Hiroshi Iwamoto, Shinichiro Ohshimo, Hironobu Hamada, Noboru Hattori, Morihito Okada, Koji Arihiro, Yuji Ohtsuki, Nobuoki Kohno
BACKGROUND: Chronic fibrosing idiopathic interstitial pneumonia (IIP) is characterized by alveolar epithelial damage, activation of fibroblast proliferation, and loss of normal pulmonary architecture and function. This study aims to investigate the genetic backgrounds of IIP through gene expression profiling and pathway analysis, and to identify potential biomarkers that can aid in diagnosis and serve as novel therapeutic targets. METHODS: RNA extracted from lung specimens of 12 patients with chronic fibrosing IIP was profiled using Illumina Human WG-6 v3 BeadChips, and Ingenuity Pathway Analysis was performed to identify altered functional and canonical signaling pathways...
August 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28821231/novel-mutations-in-pank2-and-pla2g6-genes-in-patients-with-neurodegenerative-disorders-two-case-reports
#16
Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate an abnormal brain iron accumulation in the basal ganglia. However, the diagnosis of specific types should be based on both clinical findings and molecular genetic testing for genes associated with different types of NBIA, including PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17...
August 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28818065/case-reports-of-two-pedigrees-with-recessive-arrhythmogenic-right-ventricular-cardiomyopathy-associated-with-homozygous-thr335ala-variant-in-dsg2
#17
Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W Koskenvuo
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are thought to be the main cause of ARVC. However, the exact molecular genetic etiology of the disease still remains largely inconclusive, and this along with large variabilities in clinical manifestations complicate clinical diagnostics. CASE PRESENTATION: We report two families (n = 20) in which a desmoglein-2 (DSG2) missense variant c...
August 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28814288/monoallelic-characteristic-bearing-heterozygous-l1053x-in-brca2-gene-among-sudanese-women-with-breast-cancer
#18
Alsmawal A Elimam, Mohamed Elmogtba Mouaweia Mohamed Aabdein, Mohamed El-Fatih Moly Eldeen, Hisham N Altayb, Mohamed Adel Taha, Mohammed N Nimir, Mohamed D Dafaalla, Musaab M Alfaki, Mohamed A Abdelrahim, Abdelmohaymin A Abdalla, Musab I Mohammed, Mona Ellaithi, Muzamil Mahdi Abdel Hamid, Mohamed Ahmed Salih Hassan
BACKGROUND: Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5-10% of cases. The majority of deleterious mutations are frameshift or nonsense mutations. Most of the reported BRCA2 mutations are protein truncating mutations. METHODS: The study aimed to describe the pattern of mutations including single nucleotide polymorphisms (SNPs) and variants of the BRCA2 (exon11) gene among Sudanese women patients diagnosed with BC...
August 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28806901/polymorphism-rs189037c%C3%A2-%C3%A2-t-in-the-promoter-region-of-the-atm-gene-may-associate-with-reduced-risk-of-t2dm-in-older-adults-in-china-a-case-control-study
#19
Xiang Ding, Qiukui Hao, Ming Yang, Tie Chen, Shanping Chen, Jirong Yue, Sean X Leng, Birong Dong
BACKGROUND: Recent evidence indicates that ataxia telangiectasia mutated (ATM) is a cytoplasmic protein that involves in insulin signaling pathways. When ATM gene is mutated, this event appears to contribute to the development of insulin resistance and type 2 diabetes mellitus (T2DM). Up to date, little information about the relationship between ATM gene polymorphism and T2DM is available. This study aimed to explore potential association between a genetic variant [single nucleotide polymorphism (SNP), i...
August 14, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28774260/large-intragenic-deletion-of-cdc73-exons-4-10-in-a-three-generation-hyperparathyroidism-jaw-tumor-hpt-jt-syndrome-family
#20
Vito Guarnieri, Raewyn M Seaberg, Catherine Kelly, M Jean Davidson, Simon Raphael, Andrew Y Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N Hendy, David E C Cole
BACKGROUND: Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband's daughter. METHODS: The proband had primary hyperparathyroidism (parathyroid carcinoma) and uterine leiomyomata. Her father and daughter had hyperparathyroidism (parathyroid adenoma) but no other manifestations of HPT-JT...
August 3, 2017: BMC Medical Genetics
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