Annals of Human Genetics
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- Gale, Ebsconet, Ebscoatoz, Ovid from 2004, CSA, Wiley from 1954, Rcgp, Ingenta, and Proquest
A Minimal Set of SNPs for the Noninvasive Prenatal Diagnosis of β-Thalassaemia.
β-thalassaemia is one of the commonest autosomal recessive single-gene disorders worldwide. Prenatal tests use invasive methods, posing a risk for the pregnancy itself. Development of a noninvasive prenatal diagnostic method is, therefore, of paramount importance. The aim of the present study is to...
Mutation detection in Croatian patients with Familial Hypercholesterolemia.
Familial hypercholesterolemia (FH) is caused by mutations in the genes for LDLR, APOB or PCSK9, and identification of the causative mutation provides definitive diagnosis so that the patient can be treated, their relatives tested and, therefore, premature heart disease prevented. DNA of eight unrela...
Angiotensinogen gene M235T and T174M polymorphisms and susceptibility of pre-eclampsia: a meta-analysis.
We performed a meta-analysis to examine the association between the AGT polymorphisms and PE risk: M235T (31 studies involving 2555 patients and 6114 controls) and T174M (six studies involving 681 patients and 2076 controls). For the M235T polymorphism, the TT genotype increased the PE risk as compa...
Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.
We report here an update of the UCL LDLR variant database to include variants reported in the literature and in-house between 2008 and 2010, transfer of the database to LOVDv.2.0 platform (https://grenada.lumc.nl/LOVD2/UCL-Heart/home.php?select_db=LDLR) and pathogenicity analysis. The database now c...
Bayes factor based on the trend test incorporating Hardy-Weinberg disequilibrium: more power to detect genetic association.
We propose a BF directly based on the trend test. To improve the power to detect association under recessive or dominant genetic models, we propose a BF based on the trend test and incorporating Hardy-Weinberg disequilibrium in cases. When the true model is unknown, or both the trend test and Pearso...
A functional genetic variation of the 5-HTR2A receptor affects age at onset in patients with temporal lobe epilepsy.
We investigated the relationship between this polymorphism and cognitive function in patients with temporal lobe epilepsy (TLE). We also evaluated if this polymorphism could influence the phenotype. There were 138 patients with TLE: 25% (34/138) of them found to be cognitively impaired, while the re...
HLA class-I diversity in Cameroon: evidence for a north-south structure of genetic variation and relationships with African populations.
I diversity (loci A, B and C) was analysed in four populations, two from North Cameroon (Podokwo and Uldeme) and two from South Cameroon (Ewondo and Bamileke). Northern and southern Cameroon populations show a substantial genetic diversity in terms of haplotype sharing and genetic distances, even de...
Contrasting Patterns of Nuclear and mtDNA Diversity in Native American Populations.
We report an integrated analysis of nuclear (autosomal, X- and Y-chromosome) short tandem repeat (STR) data and mtDNA D-loop sequences obtained in the same set of 22 Native populations from across the Americas. A north to south gradient of decreasing population diversity was observed, in agreement w...
Population-specific susceptibility to Crohn's disease and ulcerative colitis; dominant and recessive relative risks in the Japanese populati...
We detected a significant association of both CD and UC with only the TNFSF15 gene. Analysis by the modified genotype relative risk test (mGRR) indicated that the risk allele of TNFSF15 is dominant for CD, but is recessive for UC. These results suggest that CD and UC susceptibility differs between t...
Genomic convergence of genome-wide investigations for complex traits.
Genome-wide investigations for identifying the genes for complex traits are considered to be agnostic in terms of prior assumptions for the responsible DNA alterations. The agreement of genome-wide association studies (GWAS) and genome-wide linkage scans (GWLS) has not been explored to date. In this...