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Annals of Human Genetics

Boudour Khabou, Mouna Tabebi, Olfa Siala-Sahnoun, Emna Mkaouar-Rebai, Ahmed Rebai, Faiza Fakhfakh
The multiple drug resistance 3 (MDR3) protein is a canalicular phospholipid translocator involved in the bile secretion and encoded by the ABCB4 gene. Its deficiency is related to a large spectrum of liver diseases. Taking into account the increased evidence about the involvement of synonymous variants in inherited diseases, this study aims to explore the putative effects of silent genetic variants on the ABCB4 expression. We performed an exhaustive computational approach using ESE finder, RegRNA 2.0, MFOLD, SNPfold, and %MinMax software added to the measurement of the Relative Synonymous Codon Usage...
August 5, 2018: Annals of Human Genetics
J S Bhatti, R Vijayvergiya, B Singh, G K Bhatti
Genetic polymorphisms in glutathione S-transferase (GST) genes may modulate the risk of cardiovascular diseases. The objective of present study was to investigate the potential association between the polymorphisms of GSTM1/T1 and P1 genes and their influence on diverse clinical parameters and oxidative stress biomarkers in coronary artery disease (CAD) patients in Asian Indians. The present study includes 562 angiographically confirmed CAD patients and 564 healthy control subjects from the north Indian population...
July 24, 2018: Annals of Human Genetics
J Mohammadi-Asl, M Hajjari, M Tahmasebi Birgani, K Riahi, H Nasiri, A Kollaee
Cockayne syndrome (CS) is one the rare DNA-repair deficiency disorders with autosomal recessive inheritance. Failure to thrive and microcephaly are the major criteria of diagnosis. Owing to genetic heterogeneity of CS, whole exome sequencing is promising way to determine the genetic basis of the disease. Here, we present c.1053delT in ERCC8 gene in an Iranian family with symptom of CS using whole exome sequencing. The deletion was novel and was not previously reported elsewhere.
July 24, 2018: Annals of Human Genetics
Mercedes Rodriguez Celin, Shahida Moosa, Virginia Fano
Osteogenesis imperfecta (OI) is the most common skeletal dysplasia, which predisposes to recurrent fractures and bone deformity and presents with wide clinical variability. More than 80% of OI cases are related to dominantly inherited mutations in COL1A1 or COL1A2. The rest of the cases, however, involve many other noncollagen genes, all of which are autosomal-recessively inherited, except for IFITM5 and WNT1, which are also associated with autosomal dominant OI. Since 2012, a single recurrent heterozygous mutation in IFITM5 (c...
July 24, 2018: Annals of Human Genetics
Nima Montazeri-Najafabady, Mohammad Hossein Dabbaghmanesh, Rajeeh Mohammadian Amiri
Wnt signaling/LRP6 plays a critical role in metabolic syndrome and atherosclerosis, and variation in this pathway may lead to hyperlipidemia, nonalcoholic fatty liver disease, and coronary artery disease. In the present study, we investigated the effect of LRP6 rs2302685 (V1062I) on hyperlipidemia in Iranian children and adolescents. The population in this study consisted of 200 children (101 boys, 99 girls) aged 9-18 years old. Total cholesterol, high-density lipoprotein (HDL), low-density lipoprotein (LDL), non-HDL cholesterol, and triglyceride levels were measured...
July 24, 2018: Annals of Human Genetics
Fan Wang, Isabel Z Wang, Stephen Ellis, Stephen Archacki, John Barnard, Carlos Hubbard, Eric J Topol, Qiuyun Chen, Qing K Wang
Apolipoprotein A5 (APOA5) regulates the metabolisms of triglyceride and HDL. APOA5 variants have been linked to coronary artery disease (CAD), but their causal roles are not well studied yet. This study aims to identify the causal effects of APOA5 variants on premature CAD. Sequencing analysis of APOA5 in 128 premature, familiar CAD patients from GeneQuest identified 11 genomic variants, including p.S19W (rs3135506). SKAT analysis showed that all sequenced variants, in aggregate, significantly increased the risk of premature CAD (P-skat = 0...
July 19, 2018: Annals of Human Genetics
Carmen Palma Milla, José Miguel Lezana Rosales, Javier López Montiel, Lucas David Andrés Garrido, Carlos Sánchez Linares, Sandra Carmona Tamajón, Carmen Torres Fernández, Pablo Sánchez González, Sara Franco Freire, Carmen Benito López, Juan López Siles
Neurofibromatosis type I (NF1) is one of the most common genetic disorders in humans. NF1, a tumor predisposition syndrome, is caused by heterozygous pathogenic variants in the NF1 gene. Molecular genetic testing of NF1 is complex, especially because of the presence of a high number of partial pseudogenes, some of them with a high percentage of sequence identity. In this study, we have analyzed the largest cohort of NF1 Spanish patients (150 unrelated individuals suspected of having NF1 and 53 relatives, making a total of 203 individuals)...
July 16, 2018: Annals of Human Genetics
Sleiman Razzouk
Modern genetic therapy incorporates genomic testing and genome editing. It is the finest approach for precision medicine. Genome editing is a state-of-the-art technology to manipulate gene expression thus generating a particular genotype. It encompasses multiple programmable nuclease-based approaches leading to genetic changes. Not surprisingly, this method triggered internationally a wide array of controversies in the scientific community and in the public since it transforms the human genome. Given its importance, the pace of this technology is exceptionally fast...
July 16, 2018: Annals of Human Genetics
Evgeniya M Sukhodolskaya, Daniya I Fehretdinova, Dmitry V Shibalev, Oleg E Lazebny, Audax Z P Mabulla, Marina L Butovskaya, Alexey P Ryskov, Vasily V Vasilyev
The key regulator in the control of aggressive behavior is dopamine receptors. Association of variants in these genes with aggression has been shown in modern populations. However, these studies have not been conducted in traditional cultures. The aim of our study was to investigate population features in distributions of allele and genotype frequencies of DRD2 rs1800497, DRD4 120 bp Ins, and DRD4 exon III polymorphisms and their associations with aggressive behavior in the traditional African populations of Hadza and Datoga, which display a contrast in their culturally permitted aggression...
July 15, 2018: Annals of Human Genetics
Fang Li, Wuzhou Yuan, Xiushan Wu
Myasthenia gravis (MG) is considered to be a kind of autoimmune disorder resulting from dysfunction of neuromuscular transmission caused by autoantibodies against the nicotinic acetylcholine receptors. A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. Several recent reports have indicated that single nucleotide polymorphisms (SNPs) of CTLA-4, including rs733618, rs4553808, rs5742909, rs231775, and rs3087243 were associated with the risks of MG; however, the results were not consistent...
July 15, 2018: Annals of Human Genetics
R B Strutynskyi, L G Voronkov, V S Nagibin, I D Mazur, D Stroy, V E Dosenko
Different allelic variants of genes that encode ATP-sensitive potassium (KATP ) channels' subunits may contribute to the development of heart failure. The purpose of the work to investigate SNPs in genes that encode KATP channels in relation to echocardiographic parameters in chronic heart failure (CHF) patients. Ninety-nine people with CHF of ischemic origin with left ventricular systolic dysfunction were examined. The control group is represented by 108 clinically healthy subjects. KCNJ11 polymorphisms Ile337Val and Glu23Lys, and ABCC8 polymorphism Ser1369Ala were genotyped using polymerase chain reaction...
July 13, 2018: Annals of Human Genetics
Rajesh Talluri, Sanjay Shete
Obesity and type 2 diabetes are major public health issues with known interdependence. Genetic variants have been associated with obesity, type 2 diabetes, or both; thus, we hypothesize that some single nucleotide polymorphisms (SNPs) associated with both conditions may be mediated through obesity to affect type 2 diabetes or vice versa. We propose a framework for bidirectional mediation analyses. Simulations show that this approach accurately estimates the parameters, whether the mediation is unidirectional or bidirectional...
July 11, 2018: Annals of Human Genetics
Rebeca Pérez-Morales, Alberto González-Zamora, María Fernanda González-Delgado, Esperanza Y Calleros Rincón, Edgar H Olivas Calderón, Ollin Celeste Martínez-Ramírez, Julieta Rubio
BACKGROUND AND PURPOSE: Smoking is a major public health problem worldwide. Polymorphisms in CHRNA3, CHRNA5, and CHRNB4 receptors play a critical role in nicotine dependence, lung cancer (LC) risk, and chronic obstructive pulmonary disease (COPD). This study characterized the CHRNA3 rs1051730 and CHRNA5 rs16969968 polymorphisms in a Mexican population and its association with nicotine dependence, LC, and COPD. METHODS: The study included 312 healthy individuals, 74 LC cases and 117 COPD cases...
July 11, 2018: Annals of Human Genetics
Xiaoyu Liang, Qiuying Sha, Shuanglin Zhang
In the study of complex diseases, several correlated phenotypes are usually measured. There is also increasing evidence showing that testing the association between a single-nucleotide polymorphism (SNP) and multiple-dependent phenotypes jointly is often more powerful than analyzing only one phenotype at a time. Therefore, developing statistical methods to test for genetic association with multiple phenotypes has become increasingly important. In this paper, we develop an Allele-based Clustering Approach (ACA) for the joint analysis of multiple non-normal phenotypes in association studies...
June 22, 2018: Annals of Human Genetics
Leda Coelewij, David Curtis
A number of important findings have recently emerged relevant to identifying genetic risk factors for schizophrenia. Findings using common variants point towards gene sets of interest and also demonstrate an overlap with other psychiatric and nonpsychiatric disorders. Imputation of variants of the gene for complement component 4 (C4) from GWAS data has shown that the predicted expression of the C4A product is associated with schizophrenia risk. Very rare variants disrupting SETD1A, RBM12 or NRXN1 have a large effect on risk...
June 20, 2018: Annals of Human Genetics
Tonghanyu Liu, Feng Jiang, Xin Liu, Hongye Zhang, Lefeng Wang, Wenzhi Liu, Xingyu Wang
ATP-binding cassette, superfamily G, member 2 (ABCG2 ) has been shown to play an important role in the development of ischemic stroke in European and African American populations. The aim of the present study is to test the hypothesis that there are associations between ABCG2 polymorphisms and ischemic stroke risk in a Chinese population. We conducted a case-control study including 967 participants with ischemic stroke and 939 stroke-free controls. The rs2231137C > T and rs2231142G > T were genotyped using a TaqMan real-time polymerase chain reaction assay...
June 13, 2018: Annals of Human Genetics
Zhengyang Zhou, Hung-Chih Ku, Guan Xing, Chao Xing
In case-control genetic association studies, a standard practice is to perform the Cochran-Armitage (CA) trend test under the assumption of the additive model because of its robustness. We could even identify situations in which it outperformed the analysis model consistent with the underlying inheritance mode. In this article, we analytically reveal the statistical basis that leads to the phenomenon. By elucidating the origin of the CA trend test as a linear regression model, we decompose Pearson's χ2 -test statistic into two components-one is the CA trend test statistic that measures the goodness of fit of the linear regression model, and the other measures the discrepancy between data and the linear regression model...
May 31, 2018: Annals of Human Genetics
Pratibha Bhai, Sunita Bijarnia-Mahay, Ratna D Puri, Renu Saxena, Deepti Gupta, Udhaya Kotecha, Anil Sachdev, Dhiren Gupta, Vyomesh Vyas, Divya Agarwal, Vivek Jain, Rajeev K Bansal, Tapisha G Kumar, Ishwar Chander Verma
Fructose-1, 6-bisphosphatase deficiency is an autosomal recessive disorder of gluconeogenesis caused by genetic defect in the FBP1 gene. It is characterized by episodic, often life-threatening metabolic acidosis, liver dysfunction, and hyperlactatemia. Without a high index of suspicion, it may remain undiagnosed with devastating consequences. Accurate diagnosis can be achieved either by enzyme assay or gene studies. Enzyme assay requires a liver biopsy and is tedious, invasive, expensive, and not easily available...
May 18, 2018: Annals of Human Genetics
Manik Vohra, Anu Radha Sharma, Bobby Paul, Manoj K Bhat, Kapaettu Satyamoorthy, Padmalatha S Rai
Folate metabolism genes are pivotal to critical biological processes and are related to several conditions, including developmental, cognitive, and cardiovascular anomalies. A systematic catalog of genetic polymorphisms in protein coding regions, regulatory transcription factor binding sites, and miRNA binding sites associated with folate pathway genes may contribute to personalized medicine. We performed a comprehensive computational survey of single nucleotide polymorphisms (SNPs) of folate pathway genes to highlight functional polymorphisms in the coding region, transcription factor binding sites, and miRNAs binding sites...
July 2018: Annals of Human Genetics
Chee Wei Yew, Mohd Zahirul Hoque, Jacqueline Pugh-Kitingan, Alexander Minsong, Christopher Lok Yung Voo, Julian Ransangan, Sophia Tiek Ying Lau, Xu Wang, Woei Yuh Saw, Rick Twee-Hee Ong, Yik-Ying Teo, Shuhua Xu, Boon-Peng Hoh, Maude E Phipps, S Vijay Kumar
The region of northern Borneo is home to the current state of Sabah, Malaysia. It is located closest to the southern Philippine islands and may have served as a viaduct for ancient human migration onto or off of Borneo Island. In this study, five indigenous ethnic groups from Sabah were subjected to genome-wide SNP genotyping. These individuals represent the "North Borneo"-speaking group of the great Austronesian family. They have traditionally resided in the inland region of Sabah. The dataset was merged with public datasets, and the genetic relatedness of these groups to neighboring populations from the islands of Southeast Asia, mainland Southeast Asia and southern China was inferred...
July 2018: Annals of Human Genetics
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