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https://www.readbyqxmd.com/read/28641477/application-of-whole-genome-sequencing-technology-in-the-investigation-of-genetic-causes-of-fetal-perinatal-and-early-infant-death
#1
Jane E Armes, Mark Williams, Gareth Price, Tristan Wallis, Renee Gallagher, Admire Matsika, Christopher Joy, Melanie Galea, Glenn Gardener, Rick Leach, Sigrid Ma Swagemakers, Rick Tearle, Andrew Stubbs, James Harraway, Peter J van der Spek, Deon J Venter
Death in the fetal, perinatal, and early infant age-group has a multitude of causes, a proportion of which is presumed to be genetic. Defining a specific genetic aberration leading to the death is problematic at this young age, due to limited phenotype-genotype correlation inherent in the underdeveloped phenotype, the inability to assess certain phenotypic traits after death, and the problems of dealing with rare disorders. In this study, our aim was to increase the yield of identification of a defined genetic cause of an early death...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28594127/no-clear-support-for-a-role-for-vitamin-d-in-parkinson-s-disease-a-mendelian-randomization-study
#2
Susanna C Larsson, Andrew B Singleton, Mike A Nalls, J Brent Richards
BACKGROUND: Observational studies have found that relative to healthy controls, patients with Parkinson's disease have lower circulating concentrations of 25-hydroxyvitamin D, a clinical biomarker of vitamin D status. However, the causality of this association is uncertain. We undertook a Mendelian randomization study to investigate whether genetically decreased 25-hydroxyvitamin D concentrations are associated with PD to minimize confounding and prevent bias because of reverse causation...
June 8, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28586461/genetically-low-vitamin-d-concentrations-and-myopic-refractive-error-a-mendelian-randomization-study
#3
Gabriel Cuellar-Partida, Katie M Williams, Seyhan Yazar, Jeremy A Guggenheim, Alex W Hewitt, Cathy Williams, Jie Jin Wang, Pik-Fang Kho, Seang Mei Saw, Ching-Yu Cheng, Tien Yin Wong, Tin Aung, Terri L Young, J Willem L Tideman, Jost B Jonas, Paul Mitchell, Robert Wojciechowski, Dwight Stambolian, Pirro Hysi, Christopher J Hammond, David A Mackey, Robyn M Lucas, Stuart MacGregor
Background: Myopia prevalence has increased in the past 20 years, with many studies linking the increase to reduced time spent outdoors. A number of recent observational studies have shown an inverse association between vitamin D [25(OH)D] serum levels and myopia. However, in such studies it is difficult to separate the effects of time outdoors and vitamin D levels. In this work we use Mendelian randomization (MR) to assess if genetically determined 25(OH)D levels contribute to the degree of myopia...
June 6, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28575224/response-to-antenatal-cholecalciferol-supplementation-is-associated-with-common-vitamin-d-related-genetic-variants
#4
Rebecca J Moon, Nicholas C Harvey, Cyrus Cooper, Stefania D'Angelo, Elizabeth M Curtis, Sarah R Crozier, Sheila J Barton, Sian M Robinson, Keith M Godfrey, Nikki J Graham, John W Holloway, Nicholas J Bishop, Stephen Kennedy, Aris T Papageorghiou, Inez Schoenmakers, Robert Fraser, Saurabh V Gandhi, Ann Prentice, Hazel M Inskip, M Kassim Javaid
Context: Single nucleotide polymorphisms (SNP) in genes related to vitamin D metabolism have been associated with serum 25-hydroxyvitamin D [25(OH)D] concentration, but these relationships have not been examined following antenatal cholecalciferol supplementation. Objective: To determine whether SNPs in DHCR7, CYP2R1, CYP24A1 and GC are associated with the response to gestational cholecalciferol supplementation. Design: Within-randomization-group analysis of the MAVIDOS trial of antenatal cholecalciferol supplementation...
May 29, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28503313/novel-dhcr7-mutation-in-a-case-of-smith-lemli-opitz-syndrome-showing-46-xy-disorder-of-sex-development
#5
Mayuko Tamura, Tsuyoshi Isojima, Takeshi Kasama, Ryo Mafune, Konomi Shimoda, Hiroki Yasudo, Hiroyuki Tanaka, Chie Takahashi, Akira Oka, Sachiko Kitanaka
Smith-Lemli-Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), which is rarely observed in Japan. We report a Japanese case with 46,XY disorder of sex development and Y-shaped 2-3 toe syndactyly. DHCR7 gene analysis revealed compound heterozygous mutations including the novel mutation H442R. Early diagnosis led to starting cholesterol treatment at an early age.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28484475/de-novo-sequencing-and-transcriptome-analysis-reveal-key-genes-regulating-steroid-metabolism-in-leaves-roots-adventitious-roots-and-calli-of-periploca-sepium-bunge
#6
Jian Zhang, Xinglin Li, Fuping Lu, Shanying Wang, Yunhe An, Xiaoxing Su, Xiankuan Li, Lin Ma, Guangjian Han
Periploca sepium Bunge is a traditional medicinal plant, whose root bark is important for Chinese herbal medicine. Its major bioactive compounds are C21 steroids and periplocin, a kind of cardiac glycoside, which are derived from the steroid synthesis pathway. However, research on P. sepium genome or transcriptomes and their related genes has been lacking for a long time. In this study we estimated this species nuclear genome size at 170 Mb (using flow cytometry). Then, RNA sequencing of four different tissue samples of P...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28415985/vitamin-d-related-gene-polymorphism-predict-treatment-response-to-pegylated-interferon-based-therapy-in-thai-chronic-hepatitis-c-patients
#7
Kessarin Thanapirom, Sirinporn Suksawatamnuay, Wattana Sukeepaisarnjaroen, Pisit Tangkijvanich, Sombat Treeprasertsuk, Panarat Thaimai, Rujipat Wasitthankasem, Yong Poovorawan, Piyawat Komolmit
BACKGROUND: Patients with chronic hepatitis C (HCV) infection have high prevalence of vitamin D deficiency. Genome-wide association study data has showed that several genetic variants within vitamin D cascade affect vitamin D function. This study aimed to determine whether genetic polymorphisms of genes in the vitamin D pathway are associated with treatment responses to pegylated interferon (PEG-IFN)-based therapy in patients with chronic HCV infection. METHODS: The study included 623 Thai patients from 2 university hospitals diagnosed with chronic HCV infection who were treated with a PEG-IFN and ribavirin...
April 17, 2017: BMC Gastroenterology
https://www.readbyqxmd.com/read/28382877/common-genetic-variants-are-associated-with-lower-serum-25-hydroxyvitamin-d-concentrations-across-the-year-among-children-at-northern-latitudes
#8
Rikke A Petersen, Lesli H Larsen, Camilla T Damsgaard, Louise B Sørensen, Mads F Hjorth, Rikke Andersen, Inge Tetens, Henrik Krarup, Christian Ritz, Arne Astrup, Kim F Michaelsen, Christian Mølgaard
In a longitudinal study including 642 healthy 8-11-year-old Danish children, we investigated associations between vitamin D dependent SNP and serum 25-hydroxyvitamin D (25(OH)D) concentrations across a school year (August-June). Serum 25(OH)D was measured three times for every child, which approximated measurements in three seasons (autumn, winter, spring). Dietary and supplement intake, physical activity, BMI and parathyroid hormone were likewise measured at each time point. In all, eleven SNP in four vitamin D-related genes: Cytochrome P450 subfamily IIR1 (CYP2R1); 7-dehydrocholesterol reductase/nicotinamide adenine dinucleotide synthetase-1(DHCR7/NADSYN1); group-specific complement (GC); and vitamin D receptor were genotyped...
March 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/28362172/vitamin-d-signaling-pathways-confer-the-susceptibility-of-esophageal-squamous-cell-carcinoma-in-a-northern-chinese-population
#9
Jianzhou Yang, Haili Wang, Aifang Ji, Liang Ma, Jinsheng Wang, Changhong Lian, Zibai Wei, Lidong Wang
Experimental studies have determined the chemopreventive effects of vitamin D against the esophageal squamous cell carcinoma (ESCC); however, results from the epidemiological studies are not yet well established. The current study aimed to evaluate the associations between plasma vitamin D levels and variants on vitamin D metabolic-related genes with the risks for ESCC. A hospital-based case-control study was performed. Five hundred eighty-two ESCC patients and 569 controls were recruited in a Northern Chinese population...
March 31, 2017: Nutrition and Cancer
https://www.readbyqxmd.com/read/28357621/improved-campesterol-production-in-engineered-yarrowia-lipolytica-strains
#10
Yu Zhang, Ying Wang, Mingdong Yao, Hong Liu, Xiao Zhou, Wenhai Xiao, Yingjin Yuan
OBJECTIVES: To engineer Yarrowia lipolytica for improving the heterologous production of campesterol (a key precursor to manufacture pharmaceutical steroids). RESULTS: By screening 7-dehydrocholesterol reductase (DHCR7) from diverse species, DHCR7 from Danio rerio was the best candidate for campesterol synthesis. Overexpression of ACL (ATP: citrate lyase) or POX2 (peroxisome acyl-CoA oxidase 2) were key to improving campesterol production. The highest yield of campesterol was 942 mg/l was with the strain overexpressing POX2 in a 5 l bioreactor via high cell density fermentation process with a restricted supply of carbon sourc, sunflower seed oil...
March 29, 2017: Biotechnology Letters
https://www.readbyqxmd.com/read/28296915/genetic-variation-in-the-vitamin-d-pathway-cyp2r1-gene-predicts-sustained-hbeag-seroconversion-in-chronic-hepatitis-b-patients-treated-with-pegylated-interferon-a-multicenter-study
#11
Kessarin Thanapirom, Sirinporn Suksawatamnuay, Wattana Sukeepaisarnjareon, Tawesak Tanwandee, Phunchai Charatcharoenwitthaya, Satawat Thongsawat, Apinya Leerapun, Teerha Piratvisuth, Rattana Boonsirichan, Chalermrat Bunchorntavakul, Chaowalit Pattanasirigool, Bubpha Pornthisarn, Supot Tantipanichtheerakul, Ekawee Sripariwuth, Woramon Jeamsripong, Teeranan Sanpajit, Yong Poovorawan, Piyawat Komolmit
Evidence of a role of vitamin D in the immune system is increasing. Low serum vitamin D is associated with increased hepatitis B virus replication. Genome-wide association study (GWAS) data has revealed a number of the single nucleotide polymorphisms (SNPs) within the vitamin D synthetic pathway that affect vitamin D functions. We aimed to determine the association between SNPs in the vitamin D gene cascade and response to pegylated interferon (PegIFN) therapy in hepatitis B e-antigen (HBeAg)-positive patients...
2017: PloS One
https://www.readbyqxmd.com/read/28258022/probes-for-protein-adduction-in-cholesterol-biosynthesis-disorders-alkynyl-lanosterol-as-a-viable-sterol-precursor
#12
Keri A Tallman, Hye-Young H Kim, Zeljka Korade, Thiago C Genaro-Mattos, Phillip A Wages, Wei Liu, Ned A Porter
The formation of lipid electrophile-protein adducts is associated with many disorders that involve perturbations of cellular redox status. The identities of adducted proteins and the effects of adduction on protein function are mostly unknown and an increased understanding of these factors may help to define the pathogenesis of various human disorders involving oxidative stress. 7-Dehydrocholesterol (7-DHC), the immediate biosynthetic precursor to cholesterol, is highly oxidizable and gives electrophilic oxysterols that adduct proteins readily, a sequence of events proposed to occur in Smith-Lemli-Opitz syndrome (SLOS), a human disorder resulting from an error in cholesterol biosynthesis...
August 2017: Redox Biology
https://www.readbyqxmd.com/read/28250423/prevalence-of-four-mendelian-disorders-associated-with-autism-in-2392-affected-families
#13
Avi Saskin, Vanessa Fulginiti, Ashley H Birch, Yannis Trakadis
Autism spectrum disorder (ASD) is a neurobehavioral disorder with a heterogeneous genetic etiology. Based on the literature, several single-gene disorders, including Rett syndrome, Smith-Lemli-Opitz syndrome, PTEN hamartoma tumor syndrome and tuberous sclerosis, are associated with a high prevalence of ASD. We estimated the prevalence of these four conditions in a large cohort of patients using whole-exome sequencing data from 2392 families (1800 quads and 592 trios) with ASD from the National Database for Autism Research...
June 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28220990/oxidative-stress-serotonergic-changes-and-decreased-ultrasonic-vocalizations-in-a-mouse-model-of-smith-lemli-opitz-syndrome
#14
N F Sharif, Z Korade, N A Porter, F E Harrison
Smith-Lemli-Opitz syndrome is an inherited monogenic disorder in which mutations to the 7-dehydrocholesterol (7-DHC) reductase (Dhcr7) gene lead to deficits in cholesterol synthesis. As a result, many patients suffer from gross physiological and neurological deficits. The purpose of this study was to identify a potential abnormal behavioral phenotype in a compound mutant mouse model for Smith-Lemli-Opitz disease (Dhcr7 (Δ3)(-5/)(T93M) ) to further validate the model and to provide potential targets for future therapeutic interventions...
February 21, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28202290/effect-of-psychotropic-drug-treatment-on-sterol-metabolism
#15
Željka Korade, Wei Liu, Emily B Warren, Kristan Armstrong, Ned A Porter, Christine Konradi
Cholesterol metabolism is vital for brain function. Previous work in cultured cells has shown that a number of psychotropic drugs inhibit the activity of 7-dehydrocholesterol reductase (DHCR7), an enzyme that catalyzes the final steps in cholesterol biosynthesis. This leads to the accumulation of 7-dehydrocholesterol (7DHC), a molecule that gives rise to oxysterols, vitamin D, and atypical neurosteroids. We examined levels of cholesterol and the cholesterol precursors desmosterol, lanosterol, 7DHC and its isomer 8-dehydrocholesterol (8DHC), in blood samples of 123 psychiatric patients on various antipsychotic and antidepressant drugs, and 85 healthy controls, to see if the observations in cell lines hold true for patients as well...
February 12, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28161533/prevalence-determinants-and-clinical-correlates-of-vitamin-d-deficiency-in-patients-with-chronic-obstructive-pulmonary-disease-in-london-uk
#16
David A Jolliffe, Wai Yee James, Richard L Hooper, Neil C Barnes, Claire L Greiller, Kamrul Islam, Angshu Bhowmik, Peter M Timms, Raj K Rajakulasingam, Aklak B Choudhury, David E Simcock, Elina Hyppönen, Robert T Walton, Christopher J Corrigan, Christopher J Griffiths, Adrian R Martineau
Vitamin D deficiency is common in patients with chronic obstructive pulmonary disease (COPD), yet a comprehensive analysis of environmental and genetic determinants of serum 25-hydroxyvitamin D (25[OH]D) concentration in patients with this condition is lacking. We conducted a multi-centre cross-sectional study in 278 COPD patients aged 41-92 years in London, UK. Details of potential environmental determinants of vitamin D status and COPD symptom control and severity were collected by questionnaire, and blood samples were taken for analysis of serum 25(OH)D concentration and DNA extraction...
February 1, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27978548/vitamin-d-receptor-genotype-vitamin-d3-supplementation-and-risk-of-colorectal-adenomas-a-randomized-clinical-trial
#17
Elizabeth L Barry, Janet L Peacock, Judy R Rees, Roberd M Bostick, Douglas J Robertson, Robert S Bresalier, John A Baron
Importance: Despite epidemiological and preclinical evidence suggesting that vitamin D and calcium inhibit colorectal carcinogenesis, daily supplementation with these nutrients for 3 to 5 years was not found to significantly reduce the risk of recurrent colorectal adenomas in a recent randomized clinical trial. Objective: To investigate whether common variants in 7 vitamin D and calcium pathway genes (VDR, GC, DHCR7, CYP2R1, CYP27B1, CYP24A1, and CASR) modify the effects of vitamin D3 or calcium supplementation on colorectal adenoma recurrence...
May 1, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/27825992/prevalence-determinants-and-clinical-correlates-of-vitamin-d-deficiency-in-adults-with-inhaled-corticosteroid-treated-asthma-in-london-uk
#18
REVIEW
David A Jolliffe, Kate Kilpin, Beverley D MacLaughlin, Claire L Greiller, Richard L Hooper, Neil C Barnes, Peter M Timms, Raj K Rajakulasingam, Angshu Bhowmik, Aklak B Choudhury, David E Simcock, Elina Hyppönen, Christopher J Corrigan, Robert T Walton, Christopher J Griffiths, Adrian R Martineau
Vitamin D deficiency is common in children with asthma, and it associates with poor asthma control, reduced forced expiratory volume in one second (FEV1) and increased requirement for inhaled corticosteroids (ICS). Cross-sectional studies investigating the prevalence, determinants and clinical correlates of vitamin D deficiency in adults with asthma are lacking. We conducted a multi-centre cross-sectional study in 297 adults with a medical record diagnosis of ICS-treated asthma living in London, UK. Details of potential environmental determinants of vitamin D status, asthma control and medication use were collected by questionnaire; blood samples were taken for analysis of serum 25(OH)D concentration and DNA extraction, and participants underwent measurement of weight, height and fractional exhaled nitric oxide concentration (FeNO), spirometry and sputum induction for determination of lower airway eosinophil counts (n=35 sub-group)...
November 5, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27756067/determinants-of-neonatal-vitamin-d-levels-as-measured-on-neonatal-dried-blood-spot-samples
#19
Chloe A Smith, Cong Sun, Angela Pezic, Christine Rodda, Fergus Cameron, Katie Allen, Maria E Craig, John Carlin, Terry Dwyer, Robyn M Lucas, Darryl W Eyles, Andrew S Kemp, Justine A Ellis, Anne-Louise Ponsonby
BACKGROUND: Vitamin D deficiency is linked to adverse childhood health outcomes, yet data on the distribution and quantifiable determinants of neonatal 25-hydroxyvitamin D3 (25OHD) concentration, a vitamin D biomarker, are limited. OBJECTIVE: Our aim was to identify determinants of neonatal 25OHD concentration, measured using neonatal dried blood spots (DBS). METHODS: A total of 259 ethnically diverse children aged 0-16 years born in Victoria, Australia, were recruited...
2017: Neonatology
https://www.readbyqxmd.com/read/27732326/genetic-variants-in-the-vitamin-d-pathway-25-oh-d-levels-and-mortality-in-a-large-population-based-cohort-study
#20
José Manuel Ordóñez-Mena, Haifa Maalmi, Ben Schöttker, Kai-Uwe Saum, Bernd Holleczek, Thomas J Wang, Barbara Burwinkel, Hermann Brenner
Context: Low 25-hydroxyvitamin D [25(OH)D] concentrations have been consistently associated with excess mortality in epidemiological studies, but this association could be due to confounding by health impairments associated with low 25(OH)D levels. An association of vitamin D-related genetic variants with all-cause mortality could strengthen the claims of causality, because this association is assumed to be unaffected by confounding. Objective: To assess the associations of low 25(OH)D with mortality in the presence or absence of genetic variants in the vitamin D pathway...
February 1, 2017: Journal of Clinical Endocrinology and Metabolism
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