journal
MENU ▼
Read by QxMD icon Read
search

Annals of Human Genetics

journal
https://www.readbyqxmd.com/read/28620953/molecular-characterisation-of-%C3%AE-and-%C3%AE-thalassaemia-among-indigenous-senoi-orang-asli-communities-in-peninsular-malaysia
#1
Danny Xuan Rong Koh, Raja Zahratul Azma Raja Sabudin, Malisa Mohd Yusoff, Noor Hamidah Hussin, Rahimah Ahmad, Ainoon Othman, Endom Ismail
Thalassaemia is a public health problem in Malaysia, with each ethnic group having their own common mutations. However, there is a lack on data on the prevalence and common mutations among the indigenous people. This cross-sectional study was performed to determine the common mutations of α- and β-thalassaemia among the subethnic groups of Senoi, the largest Orang Asli group in Peninsular Malaysia. Blood samples collected from six Senoi subethnic groups were analysed for full blood count and haemoglobin analysis (HbAn)...
June 16, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28597910/a-complete-association-of-an-intronic-snp-rs6798742-with-origin-of-spinocerebellar-ataxia-type-7-cag-expansion-loci-in-the-indian-and-mexican-population
#2
Mohammed Faruq, Jonathan J Magaña, Varun Suroliya, Ankita Narang, Nadia M Murillo-Melo, Oscar Hernández-Hernández, Achal K Srivastava, Mitali Mukerji
Spinocerebellar ataxia type 7 (SCA7) is a rare neurogenetic disorder caused by highly unstable CAG repeat expansion mutation in coding region of SCA7. We aimed to understand the effect of diverse ATXN7 cis-element in correlation with CAG expansion mutation of SCA7. We initially performed an analysis to identify the haplotype background of CAG expanded alleles using eight bi-allelic single nucleotide polymorphisms (SNPs) flanking an ATXN7-CAG expansion in 32 individuals from nine unrelated Indian SCA7 families and 88 healthy controls...
June 9, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28560814/e-b-robson-phd-1928-2016-galton-professor-of-human-genetics-university-college-london-and-editor-in-chief-of-the-annals-of-human-genetics-died-july-18th-2016
#3
Sue Povey, David Hopkinson
No abstract text is available yet for this article.
May 31, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28523642/autosomal-recessive-nonsyndromic-arrhythmogenic-right-ventricular-cardiomyopathy-without-cutaneous-involvements-a-novel-mutation
#4
Mahdieh Soveizi, Bahareh Rabbani, Yousef Rezaei, Sedigheh Saedi, Nasim Najafi, Majid Maleki, Nejat Mahdieh
The arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic disease frequently associated with desmosomal mutations, mainly attributed to dominant mutations in the Plakophilin-2 (PKP2) gene. Naxos and Carvajal are the syndromic forms of ARVD/C due to recessive mutations. Herein, we report an autosomal recessive form of nonsyndromic ARVD/C caused by a mutation in the PKP2 gene. After examination and implementation of diagnostic modalities, the definite diagnosis of ARVD/C was confirmed by detection of ventricular tachycardia with a left bundle branch configuration and a superior axis, T-wave inversion in right precordial leads (i...
May 19, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28620993/the-role-of-tlr4-tnf-%C3%AE-and-il-1%C3%AE-in-type-2-diabetes-mellitus-development-within-a-north-indian-population
#5
Natalie E Doody, Monika M Dowejko, Elizabeth C Akam, Nick J Cox, Jasvinder S Bhatti, Puneetpal Singh, Sarabjit S Mastana
This study investigated the role of IL-1β-511 (rs16944), TLR4-896 (rs4986790) and TNF-α-308 (rs1800629) polymorphisms in type 2 diabetes mellitus (T2DM) among an endogamous Northern Indian population. Four hundred fourteen participants (204 T2DM patients and 210 nondiabetic controls) were genotyped for IL-1β-511, TLR4-896 and TNF-α-308 loci. The C allele of IL-1β-511 was shown to increase T2DM susceptibility by 75% (OR: 1.75 [CI 1.32-2.33]). Having two parents affected by T2DM increased susceptibility by 5...
July 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28620992/detection-of-imprinting-effects-for-quantitative-traits-on-x-chromosome-using-nuclear-families-with-multiple-daughters
#6
Kexin Yu, Ji-Yuan Zhou, Wing Kam Fung
Genomic imprinting is an epigenetic phenomenon in which the expression of an allele copy depends on its parental origin. This mechanism has been found to play an important role in many complex diseases. Statistical tests for imprinting effects have been developed for more than 15 years, but they are only suitable for autosomes. It was not until recently that the parental-asymmetry test on the X chromosome (XPAT) was proposed to test for imprinting effects. However, this test can only be used for qualitative traits...
July 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28620991/potential-positive-association-between-cytochrome-p450-1a1-gene-polymorphisms-and-recurrent-pregnancy-loss-a-meta-analysis
#7
Jie Li, Yang Chen, Sien Mo, Donghong Nai
In order to discover the potential genetic risks associated with recurrent pregnancy loss (RPL), this meta-analysis was conducted to assess the association between CYP1A1 gene polymorphism and RPL. Studies were retrieved from the databases PubMed, Embase, HuGENet, and CNKI. Four models were then applied. Seven studies, including three datasets for the rs1048943 and five for the rs4646903 single-nucleotide polymorphism (SNP), were included in this analysis, involving 613 cases and 398 controls for the rs1048943; and 864 cases and 842 controls for the rs4646903 SNP...
July 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28620990/association-patterns-of-endothelial-nitric-oxide-synthase-gene-nos3-variant-glu298asp-with-blood-pressure-and-serum-lipid-levels-in-subjects-with-coronary-artery-disease-from-pakistan
#8
Saleem Ullah Shahid, Abdul Rehman
Nitric oxide is an important antiatherosclerotic agent. The main determinant of nitric oxide levels is enzyme nitric oxide synthase encoded by the NOS3 gene, the common variants in this gene may be responsible for variations in plasma enzyme levels. The association of NOS3 variants with coronary artery disease (CAD) varies in different ethnicities. The current study aimed to determine the association of NOS3 Glu298Asp (rs1799983) with CAD and blood lipid levels in Pakistani subjects. Six hundred thirty-six samples (412 cases, 224 controls) were genotyped by TaqMan allelic discrimination assay and serum total cholesterol, and High Density Lipoprotein cholesterol (HDL-C)/Low Density Lipoprotein cholesterol (LDL-C) and triglycerides were measured...
July 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
#9
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/28369821/does-the-novel-klf1-gene-mutation-lead-to-a-delay-in-fetal-hemoglobin-switch
#10
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...
May 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
#11
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)...
May 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
#12
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...
May 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28205222/strong-amerindian-mitonuclear-discordance-in-puerto-rican-genomes-suggests-amerindian-mitochondrial-benefit
#13
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
#14
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
#15
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
#16
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...
March 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
#17
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
#18
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
#19
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...
January 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28009044/disease-concordant-twins-empower-genetic-association-studies
#20
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...
January 2017: Annals of Human Genetics
journal
journal
24810
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"