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Annals of Human Genetics

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https://www.readbyqxmd.com/read/28369821/does-the-novel-klf1-gene-mutation-lead-to-a-delay-in-fetal-hemoglobin-switch
#1
Priya Hariharan, Manju Gorivale, Roshan Colah, Kanjaksha Ghosh, Anita Nadkarni
The Kruppel-like factor 1 (KLF1) gene is an essential transcription factor that is required for the proper maturation of the erythroid cells. Recent studies have reported that KLF1 variations are associated with increased fetal hemoglobin (HbF) levels. Here we report a novel KLF1 gene variation codon 211 A→G (c.632 A>G) in a family who was referred for hemoglobinopathy screening. Both parents were classical β-thalassemia trait (mother: HbA2 4.1%, HbF 8.6%; father: HbA2 5.5%, HbF 0.6%) codon 15 G→A heterozygous, and the child was β-thalassemia homozygous...
March 31, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28294290/genetic-obesity-risk-and-attenuation-effect-of-physical-fitness-in-mexican-mestizo-population-a-case-control-study
#2
Paula Costa-Urrutia, Carolina Abud, Valentina Franco-Trecu, Valentina Colistro, Martha Eunice Rodríguez-Arellano, Joel Vázquez-Pérez, Julio Granados, Marilia Seelaender
We analyzed commonly reported European and Asian obesity-related gene variants in a Mexican-Mestizo population through each single nucleotide polymorphism (SNP) and a genetic risk score (GRS) based on 23 selected SNPs. Study subjects were physically active Mexican-Mestizo adults (n  =  608) with body mass index (BMI) values from 18 to 55 kg/m(2) . For each SNP and for the GRS, logistic models were performed to test for simple SNP associations with BMI, fat mass percentage (FMP), waist circumference (WC), and the interaction with VO2max and muscular endurance (ME)...
March 15, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28244588/investigation-of-opg-rank-rankl-genes-as-a-genetic-marker-for-cardiac-abnormalities-in-thalassemia-major-patients
#3
Mable Misha Singh, Ravindra Kumar, Satyendra Tewari, Sarita Agarwal
OBJECTIVE: The aim of the study was to investigate the role of osteoprotegerin (OPG)/RANK/RANKL variants in left ventricular hypertrophy (LVH) and diastolic dysfunction in thalassemia major patients MATERIALS AND METHOD: One hundred and five beta-thalassemia patients who were older than 10 years of age were enrolled for the study. Two-dimensional and M-mode echocardiography analysis was done in all patients. Genotyping for OPG [rs2073617 (950 T>C), rs2073618 (1181G>C)], RANK [(rs1805034(+34694 C>T), rs12458117 (+34901 G>A) and rs75404003 (+35966insdelC)], and RANKL (rs2277438, rs9594782) variants was done using the PCR-RFLP method...
February 28, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28422282/analysis-of-circulating-mir-1-mir-23a-and-mir-26a-in-atrial-fibrillation-patients-undergoing-coronary-bypass-artery-grafting-surgery
#4
Andre Feldman, Dalmo Antonio Ribeiro Moreira, Carlos Gun, Hui-Tzu Lin Wang, Mario Hiroyuki Hirata, Juliana de Freitas Germano, Gabriela Guimarães Sousa Leite, Pedro Farsky
Atrial fibrillation (AF) is the most common arrhythmia after cardiac surgery. From a pathophysiological point of view, a myriad of factors such as trauma, atrial dilation, ischemia, mechanical myopericarditis, autonomic imbalance, loss of connexins, AF nest remodeling, inflammation, sutures, and dysfunction caused by postextracorporeal circulation can contribute to postoperative atrial fibrillation (POAF) resulting in a longer hospital stay and consequently higher cost. Recent studies showed that short fragments of RNA, called microRNA (miRNA), can contribute to the development of several cardiovascular diseases, including AF...
May 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28205222/strong-amerindian-mitonuclear-discordance-in-puerto-rican-genomes-suggests-amerindian-mitochondrial-benefit
#5
Steven E Massey
A large discrepancy between the Amerindian contribution to the mitochondrial and nuclear genetic components of 55 Puerto Rican (PR) genomes from the 1000 Genomes Project is identified, with Amerindian mitochondrial haplotypes being highly represented (67.3%), in strong contrast to the Amerindian autosomal contribution (12.9%). I examine the potential causes behind this strong mitonuclear discordance. The Amerindian contribution to the X chromosome is 19.8%, implying assortative mating with Amerindian females during the establishment of the PR population...
March 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28205221/bight-of-benin-a-maternal-perspective-of-four-beninese-populations-and-their-genetic-implications-on-the-american-populations-of-african-ancestry
#6
Giuseppina Primativo, Claudio Ottoni, Gianfranco Biondi, Sara Serafino, Cristina Martínez-Labarga, Maarten H D Larmuseau, Michele Scardi, Ronny Decorte, Olga Rickards
The understanding of the first movements of the ancestral populations within the African continent is still unclear, particularly in West Africa, due to several factors that have shaped the African genetic pool across time. To improve the genetic representativeness of the Beninese population and to better understand the patterns of human settlement inside West Africa and the dynamics of peopling of the Democratic Republic of Benin, we analyzed the maternal genetic variation of 193 Beninese individuals belonging to Bariba, Berba, Dendi, and Fon populations...
March 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28205220/comprehensive-genome-profiling-of-single-sperm-cells-by-multiple-annealing-and-looping-based-amplification-cycles-and-next-generation-sequencing-from-carriers-of-robertsonian-translocation
#7
Yanwei Sha, Yankun Sha, Zhiyong Ji, Lu Ding, Qing Zhang, Honggen Ouyang, Shaobin Lin, Xu Wang, Lin Shao, Chong Shi, Ping Li, Yueqiang Song
Robertsonian translocation (RT) is a common cause for male infertility, recurrent pregnancy loss, and birth defects. Studying meiotic recombination in RT-carrier patients helps decipher the mechanism and improve the clinical management of infertility and birth defects caused by RT. Here we present a new method to study spermatogenesis on a single-gamete basis from two RT carriers. By using a combined single-cell whole-genome amplification and sequencing protocol, we comprehensively profiled the chromosomal copy number of 88 single sperms from two RT-carrier patients...
March 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28067407/analysis-of-whole-exome-sequencing-with-cardiometabolic-traits-using-family-based-linkage-and-association-in-the-iras-family-study
#8
Keri L Tabb, Jacklyn N Hellwege, Nicholette D Palmer, Latchezar Dimitrov, Satria Sajuthi, Kent D Taylor, Maggie C Y Ng, Gregory A Hawkins, Yii-der Ida Chen, W Mark Brown, David McWilliams, Adrienne Williams, Carlos Lorenzo, Jill M Norris, Jirong Long, Jerome I Rotter, Joanne E Curran, John Blangero, Lynne E Wagenknecht, Carl D Langefeld, Donald W Bowden
Family-based methods are a potentially powerful tool to identify trait-defining genetic variants in extended families, particularly when used to complement conventional association analysis. We utilized two-point linkage analysis and single variant association analysis to evaluate whole exome sequencing (WES) data from 1205 Hispanic Americans (78 families) from the Insulin Resistance Atherosclerosis Family Study. WES identified 211,612 variants above the minor allele frequency threshold of ≥0.005. These variants were tested for linkage and/or association with 50 cardiometabolic traits after quality control checks...
January 9, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28084001/no-evidence-for-association-of-%C3%AE-defensin-genomic-copy-number-with-hiv-susceptibility-hiv-load-during-clinical-latency-or-progression-to-aids
#9
Razan Abujaber, Patrick R Shea, Paul J McLaren, Shabir Lakhi, Jill Gilmour, Susan Allen, Jacques Fellay, Edward J Hollox
Common single-nucleotide variation in the host accounts for 25% of the variability in the plasma levels of HIV during the clinical latency stage (viral load set point). However, the role of rare variants and copy number variants remains relatively unexplored. Previous work has suggested copy number variation of a cluster of β-defensin genes affects HIV load in treatment-naïve sub-Saharan Africans and rate of response to antiretroviral treatment. Here we analyse a total of 1827 individuals from two cohorts of HIV-infected individuals from Europe and sub-Saharan Africa to investigate the role of β-defensin copy number variation on HIV load at set point...
January 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28054334/comprehensive-candidate-gene-analysis-for-symptomatic-or-asymptomatic-outcomes-of-leishmania-infantum-infection-in-brazil
#10
Jason L Weirather, Priya Duggal, Eliana L Nascimento, Gloria R Monteiro, Daniella R Martins, Henio G Lacerda, Michaela Fakiola, Jenefer M Blackwell, Selma M B Jeronimo, Mary E Wilson
Genetic risk factors contribute to asymptomatic versus symptomatic visceral leishmaniasis (VL) outcomes following infection with Leishmania infantum. We therefore carried out a family-based (n = 918 post-quality control fully genotyped and phenotyped individuals) candidate gene study for symptomatic VL or asymptomatic delayed-type hypersensitivity (DTH) skin test phenotypes in highly endemic neighborhoods of northeast Brazil. A total of 248 SNPs were genotyped in 42 genes selected as candidates on the basis of prior genetic, immunological, and transcriptional profiling studies...
January 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28025823/hla-alleles-are-genetic-markers-for-susceptibility-and-resistance-towards-leprosy-in-a-mexican-mestizo-population
#11
Maribel Aguilar-Medina, Monica Escamilla-Tilch, Luis Octavio Frías-Castro, Geovanni Romero-Quintana, Iris Estrada-García, Sergio Estrada-Parra, Julio Granados, Eliakym Arambula Meraz, Guzman Sánchez-Schmitz, Shabaana Abdul Khader, Javier Rangel-Moreno, Rosalío Ramos-Payán
Despite the use of multidrug therapy, leprosy remains endemic in some countries. The association of several human leucocyte antigen (HLA) alleles and gene polymorphisms with leprosy has been demonstrated in many populations, but the major immune contributors associated to the spectrum of leprosy have not been defined yet. In this study, genotyping of HLA-A, -B, -DR, and -DQ alleles was performed in leprosy patients (n = 113) and control subjects (n = 117) from the region with the highest incidence for the disease in México...
December 27, 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/28009044/disease-concordant-twins-empower-genetic-association-studies
#12
Qihua Tan, Weilong Li, Fabio Vandin
Genome-wide association studies with moderate sample sizes are underpowered, especially when testing SNP alleles with low allele counts, a situation that may lead to high frequency of false-positive results and lack of replication in independent studies. Related individuals, such as twin pairs concordant for a disease, should confer increased power in genetic association analysis because of their genetic relatedness. We conducted a computer simulation study to explore the power advantage of the disease-concordant twin design, which uses singletons from disease-concordant twin pairs as cases and ordinary healthy samples as controls...
December 23, 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/27943244/genetic-variations-in-bilirubin-metabolism-genes-and-their-association-with-unconjugated-hyperbilirubinemia-in-adults
#13
Ashish S Chiddarwar, Selma Z D'Silva, Roshan B Colah, Kanjaksha Ghosh, Malay B Mukherjee
OBJECTIVE: The present study was undertaken to investigate the genotype and allele frequencies of the variants in the four bilirubin metabolism genes (UGT1A1, OATP2, HMOX1, and BLVRA) and their association with hyperbilirubinemia. MATERIAL AND METHODS: Genotyping of 17 genetic variants was performed in 115 adults with hyperbilirubinemia and 150 controls by PCR-RFLP, GeneScan analysis, and direct DNA sequencing. RESULTS: Genetic polymorphisms of the UGT1A1 promoter, specifically the T-3279G phenobarbital-responsive enhancer module and (TA)7 dinucleotide repeat, as well as the intron and coding region variants of the OATP2, HMOX1, and BLVRA genes, were significantly higher among the cases than the controls...
December 12, 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/27935012/mutational-analysis-of-agxt-in-tunisian-population-with-primary-hyperoxaluria-type-1
#14
Saoussen M'dimegh, Asma Omezzine, Ibtihel M'barek, Amira Moussa, Sameh Mabrouk, Hayet Kaarout, Geneviéve Souche, Jalel Chemli, Sabra Aloui, Cécile Aquaviva-Bourdain, Abdellatif Achour, Saoussen Abroug, Ali Bouslama
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine:glyoxylate aminotransferase (AGT). PH1 is a clinically and genetically heterogeneous disorder. The aim of our study was to analyze and characterize the mutational spectrum of PH1 in Tunisian patients. MATERIALS AND METHODS: Molecular studies of 146 Tunisian patients suspected with PH were performed by PCR/Restriction fragment length polymorphism (RFLP) to detect seven mutations described as the most common...
December 9, 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/27870115/mica-gene-deletion-in-3411-dna-samples-from-five-distinct-populations-in-mainland-china-and-lack-of-association-with-nasopharyngeal-carcinoma-npc-in-a-southern-chinese-han-population
#15
WenYi Wang, Wei Tian, FaMing Zhu, LiXin Li, JinHong Cai, Fan Wang, KangLong Liu, HeKun Jin, JunLong Wang
Deletion of major histocompatibility complex class I chain-related genes A (MICA*Del) was investigated in 3,411 DNA samples from two southern Chinese Han populations (Hunan Han, HNH; Guangdong Han, GDH), two northern Chinese populations (Inner Mongolia Han, IMH; Inner Mongolia Mongol, IMM) and one southeastern Chinese Han population (Fujian Han, FJH) using an in-house polymerase chain reaction-sequence specific priming (PCR-SSP) assay, which enables direct discrimination between heterozygote and homozygote for MICA*Del...
November 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/27870114/the-molecular-genetics-of-autosomal-recessive-nonsyndromic-intellectual-disability-a-mutational-continuum-and-future-recommendations
#16
REVIEW
Muzammil Ahmad Khan, Saadullah Khan, Christian Windpassinger, Muhammad Badar, Zafar Nawaz, Ramzi M Mohammad
Intellectual disability (ID) is a clinical manifestation of the central nervous system without any major dysmorphologies of the brain. Biologically it affects learning capabilities, memory, and cognitive functioning. The basic defining features of ID are characterized by IQ<70, age of onset before 18 years, and impairment of at least two of the adaptive skills. Clinically it is classified in a syndromic (with additional abnormalities) and a nonsyndromic form (with only cognitive impairment). The study of nonsyndromic intellectual disability (NSID) can best explain the pathophysiology of cognition, intelligence and memory...
November 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/27870113/targeted-resequencing-of-deafness-genes-reveals-a-founder-myo15a-variant-in-northeastern-brazil
#17
Gabrielle N Manzoli, Guney Bademci, Angelina X Acosta, Têmis M Félix, F Basak Cengiz, Joseph Foster, Danniel S Dias Da Silva, Ibis Menendez, Isalis Sanchez-Pena, Demet Tekin, Susan H Blanton, Kiyoko Abe-Sandes, Xue Zhong Liu, Mustafa Tekin
Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deafness-related genes revealed the causative variants in 11 of 19 (58%) Brazilian probands with autosomal recessive HL. Identified pathogenic variants were in MYO15A (10 families) and CLDN14 (one family). Remarkably, the MYO15A p.(Val1400Met) variant was identified in eight families from the city of Monte Santo in the northeast region of Brazil...
November 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/27714771/in-vitro-functional-analyses-of-infrequent-nucleotide-variants-in-the-lactase-enhancer-reveal-different-molecular-routes-to-increased-lactase-promoter-activity-and-lactase-persistence
#18
Anke Liebert, Bryony L Jones, Erik Thomas Danielsen, Anders Krüger Olsen, Dallas M Swallow, Jesper T Troelsen
The genetic trait that allows intestinal lactase to persist into adulthood in some 35% of humans worldwide operates at the level of transcription, the effect being caused by cis-acting nucleotide changes upstream of the lactase gene (LCT). A single nucleotide substitution, -13910 C>T, the first causal variant to be identified, accounts for lactase persistence over most of Europe. Located in a region shown to have enhancer function in vitro, it causes increased activity of the LCT promoter in Caco-2 cells, and altered transcription factor binding...
November 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/27699784/association-of-rs11643718-slc12a3-and-rs741301-elmo1-variants-with-diabetic-nephropathy-in-south-indian-population
#19
Dhanasekaran Bodhini, Manickam Chidambaram, Samuel Liju, Balakannan Revathi, Dhandapani Laasya, Natarajan Sathish, Sekar Kanthimathi, Saurabh Ghosh, Ranjit Mohan Anjana, Viswanathan Mohan, Venkatesan Radha
This study reports on the association of genetic variants selected from previous genome-wide association studies for type 2 diabetic nephropathy in south Indians. Eight variants were genotyped in 601 type 2 diabetic subjects without nephropathy (DM) and 583 type 2 diabetic subjects with nephropathy (DN) by MassARRAY. The minor allele frequencies of rs11643718 SLC12A3 variant and rs741301 ELMO1 variant were significantly different between DM and DN groups (P = 0.029 and 0.016, respectively). A combined analysis showed that the subjects carrying the risk genotypes of both these variants (GG of rs11643718 + AG/AA of rs741301) had a significant association with DN with an odds ratio [adjusted for age, sex, Body Mass Index (BMI), HbA1c, and systolic Blood Pressure (BP)] of 1...
November 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/27699767/glucuronic-acid-epimerase-glce-variant-rs3865014-a-g-is-associated-with-bmi-blood-hemoglobin-hypertension-and-cerebrovascular-events-the-tamrisk-study
#20
Tarja Kunnas, Tiina Solakivi, Kirsi Määttä, Seppo T Nikkari
Heparan sulfate proteoglycans modulate many physiological systems, and genes responsible for proteoglycan assembly and disassembly may affect their interaction. We sought to determine whether polymorphisms of the glucuronic acid epimerase (GLCE) rs3865014 and sulfatase-2 (SULF2) rs2281279, genes coding for enzymes participating in heparan sulfate side chain activity, associate with hypertension, selected cardiometabolic risk factors and cardiovascular events in the Tampere adult population cardiovascular risk study...
November 2016: Annals of Human Genetics
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