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https://www.readbyqxmd.com/read/29683526/homozygote-c-c-at-rs12543318-was-risk-factor-for-non-syndromic-cleft-lip-only-from-western-han-chinese-population
#1
Bi-He Zhang, Ning Huang, Jia-Yu Shi, Bing Shi, Zhong-Lin Jia
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a complex disorder, it results from both of the genetic modifiers and environmental factors, with genetic modifiers contributed to it more than environmental factors. GWASs studies made great progress in identifying the candidate genes for NSCL/P, but the findings needs to be replicated in other populations. In this study, we selected eleven SNPs from recent GWASs and GWAS meta-analysis to investigate their associations among 308 NSCL/P trios (134 non-syndromic cleft lip only (NSCLO) trios and 174 non-syndromic cleft lip with cleft palate (NSCLP) trios) from Han Chinese population...
April 23, 2018: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29661184/genetic-variants-of-slc12a3-modulate-serum-lipid-profiles-in-a-group-of-mongolian-pedigree-population
#2
Caiyan An, Junqing Liang, Kejin Zhang, Xiulan Su
BACKGROUND: The serum lipid profile, including LDL-C level, is associated with hypertension which is the major cause of cerebrovascular disease (CVD) amounting 30% of global death rate. Previous work also demonstrated important roles of genetic variants of SLC12A3 gene on human CVD, hypertension and other diseases in Mongolian population. However, the relationship between SLC12A3 gene polymorphisms on individuals' lipid profile is still unknown. METHODS: A panel of 15 SNPs of SLC12A3 gene was genotyped within a 424 Mongolians pedigree cohort...
April 16, 2018: Lipids in Health and Disease
https://www.readbyqxmd.com/read/29590321/polymorphisms-within-ryr3-gene-are-associated-with-risk-and-age-at-onset-of-hypertension-diabetes-and-alzheimer-s-disease
#3
Shaoqing Gong, Brenda Bin Su, Hugo Tovar, ChunXiang Mao, Valeria Gonzalez, Ying Liu, Yongke Lu, Ke-Sheng Wang, Chun Xu
Background: Hypertension affects 33% of Americans while type 2 diabetes and Alzheimer's disease (AD) affect 10% of Americans, respectively. Ryanodine receptor 3 gene (RYR3) codes for the ryanodine receptor which functions to release stored endoplasmic reticulum calcium ions (Ca2+ ) to increase intracellular Ca2+ concentration. Increasing studies demonstrate that altered levels of intracellular Ca2+ affects cardiac contraction, insulin secretion and neurodegeneration. In this study, we investigated associations of the RYR3 genetic variants with hypertension, AD, and diabetes...
March 26, 2018: American Journal of Hypertension
https://www.readbyqxmd.com/read/29531279/genome-wide-association-analysis-identifies-new-candidate-risk-loci-for-familial-intracranial-aneurysm-in-the-french-canadian-population
#4
Sirui Zhou, Ziv Gan-Or, Amirthagowri Ambalavanan, Dongbing Lai, Pingxing Xie, Cynthia V Bourassa, Stephanie Strong, Jay P Ross, Alexandre Dionne-Laporte, Dan Spiegelman, Nicolas Dupré, Tatiana M Foroud, Lan Xiong, Patrick A Dion, Guy A Rouleau
Intracranial Aneurysm (IA) is a common disease with a worldwide prevalence of 1-3%. In the French-Canadian (FC) population, where there is an important founder effect, the incidence of IA is higher and is frequently seen in families. In this study, we genotyped a cohort of 257 mostly familial FC IA patients and 1,992 FC controls using the Illumina NeuroX SNP-chip. The most strongly associated loci were tested in 34 Inuit IA families and in 32 FC IA patients and 106 FC controls that had been exome sequenced (WES)...
March 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29509083/association-of-snp-rs1867277-in-foxe1-gene-and-cleft-lip-with-or-without-cleft-palate-in-a-han-chinese-population
#5
Liang Xie, Ying Deng, Yumei Yuan, Xiong Tan, Lijun Liu, Nana Li, Changfei Deng, Hanmin Liu, Li Dai
BACKGROUND: The genetic factors causing cleft lip with or without cleft palate (CL ± P) are still unclear. The SNPs in FOXE1 gene were associated with CL ± P. However, the results have been inconsistent. OBJECTIVE: We explored the associations of four SNPs in FOXE1 gene and CL ± P by a family based study. MATERIALS AND METHODS: 128 children with CL ± P and their parents were recruited. rs3758249 and rs1867277 were genotyped by high-resolution melting curve (HRM) method, whereas rs1443434 and rs907577 were genotyped by Sequenom MassARRAY® method...
April 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29457221/association-of-stat6-gene-variants-with-food-allergy-diagnosed-by-double-blind-placebo-controlled-food-challenges
#6
C D van Ginkel, M E Pettersson, A E J Dubois, G H Koppelman
This study describes the role of two STAT6 gene variants in food allergy using data of patients and their parents who underwent double-blind placebo-controlled food challenges (DBPCFCs). After quality control, 369 trios were analysed including 262 children (71.0%) with food allergy. Associations were tested by the Family based association test. The A alleles of both SNPs were associated with food allergy (P = .036 and P = .013 for rs324015 and rs1059513, respectively). Furthermore, these A alleles were associated with peanut allergy, higher sIgE levels to both peanut and cow's milk, more severe symptoms and higher eliciting doses during peanut and cow's milk DBPCFCs (all P < ...
February 19, 2018: Allergy
https://www.readbyqxmd.com/read/29428204/transmission-disequilibrium-of-rs4809957-in-type-2-diabetes-mellitus-families-and-its-association-with-vitamin-d-deficiency-a-family-based-case-control-study
#7
Songcheng Yu, Xing Li, Yan Wang, Zhenxing Mao, Chongjian Wang, Yue Ba, Wenjie Li
AIMS: Association between T2DM and vitamin D was found in many epidemiologic reports. And 24-hydroxylase encoded by CYP24A1 is the very enzyme that degrades the active vitamin D metabolite. We aimed to investigate the association between rs4809957 in CYP24A1 and T2DM, as well as vitamin D level. METHODS: A total of 419 pedigrees containing 1556 participants were included. T2DM diagnosis, 25(OH)D measurement and genotyping of rs4809957 were conducted for all the individual...
April 2018: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/29358755/maternal-transmission-disequilibrium-of-rs2248359-in-type-2-diabetes-mellitus-families-and-its-association-with-vitamin-d-level-in-offspring
#8
Songcheng Yu, Xing Li, Yan Wang, Zhenxing Mao, Chongjian Wang, Yue Ba, Wenjie Li
Association between T2DM and vitamin D deficiency has been reported in many epidemiologic studies. 24-hydroxylase encoded by CYP24A1 is the enzyme that degrades the active vitamin D metabolite. Variation in CYP24A1 may be associated with T2DM. This study investigates the association between rs2248359 in CYP24A1 and T2DM by a family-based association test (FBAT) and in a case-control study. The FBAT results revealed that there was transmission disequilibrium for allele T in both additive model (Z = 2.041, P = 0...
January 22, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29159827/family-based-tests-for-associating-haplotypes-with-general-phenotype-data-improving-the-fbat-haplotype-algorithm
#9
Julian Hecker, Xin Xu, F William Townes, Heide Loehlein Fier, Chris Corcoran, Nan Laird, Christoph Lange
For family-based association studies, Horvath et al. proposed an algorithm for the association analysis between haplotypes and arbitrary phenotypes when the phase of the haplotypes is unknown, that is, genotype data is given. Their approach to haplotype analysis maintains the original features of the TDT/FBAT-approach, that is, complete robustness against genetic confounding and misspecification of the phenotype. The algorithm has been implemented in the FBAT and PBAT software package and has been used in numerous substantive manuscripts...
February 2018: Genetic Epidemiology
https://www.readbyqxmd.com/read/28808521/replicative-genetic-association-study-between-functional-polymorphisms-in-avpr1a-and-social-behavior-scales-of-autism-spectrum-disorder-in-the-korean-population
#10
So Young Yang, Soon Ae Kim, Gang Min Hur, Mira Park, Jong-Eun Park, Hee Jeong Yoo
BACKGROUND: Arginine vasopressin has been shown to affect social and emotional behaviors, which is mediated by the arginine vasopressin receptor (AVPR1A). Genetic polymorphisms in the AVPR1A promoter region have been identified to be associated with susceptibility to social deficits in autism spectrum disorder (ASD). We hypothesize that alleles of polymorphisms in the promoter region of AVPR1A may differentially interact with certain transcriptional factors, which in turn affect quantitative traits, such as sociality, in children with autism...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28520814/rs12970134-near-mc4r-is-associated-with-appetite-and-beverage-intake-in-overweight-and-obese-children-a-family-based-association-study-in-chinese-population
#11
Shuo Wang, Jieyun Song, Yide Yang, Nitesh V Chawla, Jun Ma, Haijun Wang
BACKGROUND: Recent studies indicated that eating behaviors are under genetic influence, and the melanocortin 4 receptor (MC4R) gene polymorphisms can affect the total energy intake and the consumption of fat, protein and carbohydrates. Our study aims at investigating the association of the MC4R polymorphism with appetite and food intake among Chinese children. METHODS: A family-based association study was conducted among 151 Chinese trios whose offsprings were overweight/obese children aged 9-15 years...
2017: PloS One
https://www.readbyqxmd.com/read/28388625/poor-performance-of-the-rapid-test-for-human-brucellosis-in-health-facilities-in-kenya
#12
William A de Glanville, Raquel Conde-Álvarez, Ignacio Moriyón, John Njeru, Ramón Díaz, Elizabeth A J Cook, Matilda Morin, Barend M de C Bronsvoort, Lian F Thomas, Samuel Kariuki, Eric M Fèvre
Human brucellosis is considered to be an important but typically under-diagnosed cause of febrile illness in many low and middle-income countries. In Kenya, and throughout East Africa, laboratory diagnosis for the disease is based primarily on the febrile antigen Brucella agglutination test (FBAT), yet few studies of the diagnostic accuracy of this test exist. Assessment of the performance of the FBAT is essential for its appropriate clinical use, as well as for evaluating surveillance data reported by public health systems...
April 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28030616/rare-cnvs-in-suicide-attempt-include-schizophrenia-associated-loci-and-neurodevelopmental-genes-a-pilot-genome-wide-and-family-based-study
#13
Marcus Sokolowski, Jerzy Wasserman, Danuta Wasserman
Suicidal behavior (SB) has a complex etiology involving genes and environment. One of the genetic components in SB could be copy number variations (CNVs), as CNVs are implicated in neurodevelopmental disorders. However, a recently published genome-wide and case-control study did not observe any significant role of CNVs in SB. Here we complemented these initial observations by instead using a family-based trio-sample that is robust to control biases, having severe suicide attempt (SA) in offspring as main outcome (n = 660 trios)...
2016: PloS One
https://www.readbyqxmd.com/read/27920663/asd-and-genetic-associations-with-receptors-for-oxytocin-and-vasopressin-avpr1a-avpr1b-and-oxtr
#14
Sunday M Francis, Soo-Jeong Kim, Emily Kistner-Griffin, Stephen Guter, Edwin H Cook, Suma Jacob
Background: There are limited treatments available for autism spectrum disorder (ASD). Studies have reported significant associations between the receptor genes of oxytocin (OT) and vasopressin (AVP) and ASD diagnosis, as well as ASD-related phenotypes. Researchers have also found the manipulation of these systems affects social and repetitive behaviors, core characteristics of ASD. Consequently, research involving the oxytocin/vasopressin pathways as intervention targets has increased. Therefore, further examination into the relationship between these neuropeptides and ASD was undertaken...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27788777/test-for-association-of-common-variants-in-grm7-with-alcohol-consumption
#15
Whitney E Melroy-Greif, Csaba Vadasz, Helen M Kamens, Matthew B McQueen, Robin P Corley, Michael C Stallings, Christian J Hopfer, Kenneth S Krauter, Sandra A Brown, John K Hewitt, Marissa A Ehringer
Recent work using a mouse model has identified the glutamate metabotropic receptor 7 (Grm7) gene as a strong candidate gene for alcohol consumption. Although there has been some work examining the effect of human glutamate metabotropic receptor 7 (GRM7) polymorphisms on human substance use disorders, the majority of the work has focused on other psychiatric disorders such as ADHD, major depressive disorder, schizophrenia, bipolar disorder, panic disorder, and autism spectrum disorders. The current study aimed to evaluate evidence for association between GRM7 and alcohol behaviors in humans using a single nucleotide polymorphism (SNP) approach, as well as a gene-based approach...
September 2016: Alcohol
https://www.readbyqxmd.com/read/27716086/association-of-cd247-cd3%C3%AE-gene-polymorphisms-with-t1d-and-aitd-in-the-population-of-northern-sweden
#16
Dan Holmberg, Karin Ruikka, Petter Lindgren, Mats Eliasson, Sofia Mayans
BACKGROUND: T1D and AITD are autoimmune disorders commonly occurring in the same family and even in the same individual. The genetic contribution to these disorders is complex making uncovering of susceptibility genes very challenging. The general aim of this study was to identify loci and genes contributing to T1D/AITD susceptibility. Our strategy was to perform linkage and association studies in the relatively genetically homogenous population of northern Sweden. We performed a GWLS to find genomic regions linked to T1D/AITD in families from northern Sweden and we performed an association study in the families to test for association between T1D/AITD and variants in previously published candidate genes as well as a novel candidate gene, CD247...
October 4, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27706679/association-of-single-nucleotide-polymorphisms-rs2235371-and-rs2013162-in-the-irf6-gene-with-non-syndromic-cleft-palate-in-northeast-china
#17
W Xu, W T Han, Y P Lu, W H Feng, M Dai
The aim of this study was to determine the association between two SNPs (rs2235371 and rs2013162) in the interferon regulatory factor 6 (IRF6) gene and non-syndromic cleft palate (NSCP) in northeast China. We genotyped these two SNPs in 104 NSCP cases, as well as in 178 parents and 300 controls. Case-control and case-parent analyses were performed using χ2 tests and family-based association tests (FBAT). Results indicated that there were significant differences in both genotypic and allelic distributions between patients and controls at rs2235371 and rs2013162 in the IRF6 gene...
September 2, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27586004/non-parametric-survival-analysis-of-epg5-gene-with-age-at-onset-of-alzheimer-s-disease
#18
Ke-Sheng Wang, Xuefeng Liu, Changchun Xie, Ying Liu, Chun Xu
Non-parametric methods such as Wilcoxon test have the advantages of no assumptions for the underlying survival distributions. Alzheimer's disease (AD) is a chronic neurodegenerative disease while the ectopic P-granules autophagy protein 5 homolog (EPG5 gene) is highly expressed in human brain and may implicate in the pathogenesis of neurodegenerative disorders. The present study explored the associations of 26 single-nucleotide polymorphisms (SNPs) in the EPG5 gene with the age at onset (AAO) of AD using a family-based association test (FBAT)-Wilcoxon statistic in a family-based study...
December 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27579596/a-family-based-association-study-of-the-htr1b-gene-in-eating-disorders
#19
Sandra Hernández, Beatriz Camarena, Laura González, Alejandro Caballero, Griselda Flores, Alejandro Aguilar
OBJECTIVE: To explore the association of three polymorphisms of the serotonin receptor 1Dβ gene (HTR1B) in the etiology of eating disorders and their relationship with clinical characteristics. METHODS: We analyzed the G861C, A-161T, and A1180G polymorphisms of the HTR1B gene through a family-based association test (FBAT) in 245 nuclear families. The sample was stratified into anorexia nervosa (AN) spectrum and bulimia nervosa (BN) spectrum. In addition, we performed a quantitative FBAT analysis of anxiety severity, depression severity, and Yale-Brown-Cornell Eating Disorders Scale (YBC-EDS) in the AN and BN-spectrum groups...
July 2016: Revista Brasileira de Psiquiatria
https://www.readbyqxmd.com/read/27412500/rare-variants-in-the-adamts13-von-willebrand-factor-binding-domain-contribute-to-pediatric-stroke
#20
Monika Stoll, Frank Rühle, Anika Witten, Andrei Barysenka, Astrid Arning, Christina Strauss, Ulrike Nowak-Göttl
BACKGROUND: Recently, we reported a gene network of ADAMTS (A Disintegrin-like and Metalloprotease with Thrombospondin motifs) genes as central component of the genetic risk contributing to pediatric stroke. ADAMTS13 is a prime example for such a key component as it cleaves von Willebrand factor multimers, reduces platelet adhesion and aggregation, and downregulates thrombus formation and inflammation. METHODS AND RESULTS: We characterized the genetic architecture of ADAMTS13 through targeted next-generation sequencing of 48 affected children and their unaffected siblings and identified in total 241 variants (single nucleotide polymorphisms or insertions/deletions) in the ADAMTS13 gene...
August 2016: Circulation. Cardiovascular Genetics
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