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population genetic

Christian Rellstab, Stefan Zoller, Lorenz Walthert, Isabelle Lesur, Andrea R Pluess, René Graf, Catherine Bodénès, Christoph Sperisen, Antoine Kremer, Felix Gugerli
Testing how populations are locally adapted and predicting their response to their future environment is of key importance in view of climate change. Landscape genomics is a powerful approach to investigate genes and environmental factors involved in local adaptation. In a pooled amplicon sequencing approach of 94 genes in 71 populations, we tested if >3'500 single nucleotide polymorphisms (SNPs) in the three most common oak species in Switzerland (Quercus petraea, Q. pubescens, Q. robur) show an association with abiotic factors related to local topography, historical climate, and soil characteristics...
October 19, 2016: Molecular Ecology
Susan E Luczak, Rubin Khoddam, Sheila Yu, Tamara L Wall, Anna Schwartz, Steve Sussman
BACKGROUND AND OBJECTIVES: We conducted a review of the prevalence and co-occurrence of 12 types of addictions in US ethnic/racial groups and discuss the implications of the results for genetic research on addictions. METHODS: We utilized MEDLINE and PsycINFO databases to review the literature on alcohol, tobacco, marijuana, illicit drugs, gambling, eating/food, internet, sex, love, exercise, work, and shopping. We present results for each addiction based on total US prevalence, prevalence within ethnic groups, and co-occurrence of addictions among ethnic groups when available...
October 19, 2016: American Journal on Addictions
R Rebecca Love, Aaron M Steele, Mamadou B Coulibaly, Sékou F Traore, Scott J Emrich, Michael C Fontaine, Nora J Besansky
The molecular mechanisms and genetic architecture that facilitate adaptive radiation of lineages remain elusive. Polymorphic chromosomal inversions, due to their recombination-reducing effect, are proposed instruments of ecotypic differentiation. Here we study an ecologically diversifying lineage of An. gambiae, known as the Bamako chromosomal form based on its unique complement of three chromosomal inversions, to explore the impact of these inversions on ecotypic differentiation. We used pooled and individual genome sequencing of Bamako, typical (non-Bamako) An...
October 19, 2016: Molecular Ecology
Imene Dalichaouche, Yamina Sifi, Carinne Roudaut, Karima Sifi, Abdelmadjid Hamri, Leila Rouabah, Noureddine Abadi, Isabelle Richard
INTRODUCTION: We report the genetic analysis of a large series of 76 Algerian patients from 65 unrelated families that presented with early onset severe muscular dystrophy and a clinical phenotype resembling Limb-girdle muscular dystrophy type 2C (LGMD2C). METHODS: To define the genetic basis of the diseases in these families, we undertook a series of analysis of the γ-sarcoglycan (SGCG) and DMD genes. RESULTS: Fifteen families were shown to carry SGCG variants...
October 19, 2016: Muscle & Nerve
N M Mamedaliyeva, S Sh Issenova, V N Lokshin
A molecular genetic study of DNA in 98 pregnant women with mycoplasma infection and 100 healthy pregnant women was carried out. The results of the study revealed that the presence of the homozygous mutant genotype AA increases the risk of pro-inflammatory processes in the body by 6.7 times, and the carriage of GA genotypic variants increases the risk of its occurrence by 2.6 times.
October 2016: Gynecological Endocrinology
C M Mariaselvam, C Fortier, D Charron, R Krishnamoorthy, R Tamouza, V S Negi
Rheumatoid arthritis (RA) is a complex multifactorial autoimmune disease characterized by inflammatory arthritis. The precise etiology and pathogenesis of RA remains elusive but evidence points towards stochastic interactions between genetic and environmental factors. This study investigated the distribution of human leucocyte antigen (HLA)-DRB1/DQB1 alleles in South Indian patients with rheumatoid arthritis (RA) and their influence on RA susceptibility and clinical phenotype. Low resolution HLA-DRB1 and -DQB1 typing was performed in 271 RA patients and 233 healthy controls by polymerase chain reaction (PCR) using sequence-specific primers (SSP)...
November 2016: HLA
E Garcia-Mayoral, M Olsen, R Hedeholm, S Post, E E Nielsen, D Bekkevold
In this study, 11 microsatellite markers were used to determine the structure of West Greenlandic lumpfish Cyclopterus lumpus populations across six spawning locations spanning >1500 km and compared with neighbouring populations in Canada and Iceland. To evaluate whether data allow for identification of origin of C. lumpus in Greenlandic waters, genetic assignment analysis was performed for 86 C. lumpus sampled on a feeding migration. Significant structuring with isolation by distance was observed in the West Greenland samples and two major subpopulations, north and south, were suggested...
October 17, 2016: Journal of Fish Biology
Jun-Ichi Suto, Misaki Kojima
Inbred DDD/Sgn mice are heavier than inbred C57BL/6J mice. In the present study, we performed quantitative trait loci (QTL) mapping for body weight using R/qtl in reciprocal F2 male populations between the two strains. We identified four significant QTL on Chrs 1, 2, 5, and 17 (proximal region). The DDD/Sgn allele was associated with increased body weight at QTL on Chrs 1 and 5, and the DDD/Sgn allele was associated with decreased body weight at QTL on Chrs 2 and 17. A multiple regression analysis indicated that the detected QTL explain 30...
October 17, 2016: Mammalian Genome: Official Journal of the International Mammalian Genome Society
Yoonjin Shin, Yangha Kim
The aim of this study was to investigate the association of CD36, a class B scavenger receptor, rs6969989 polymorphism with the serum lipid profiles in Korean women, together with their modulation by oily fish consumption. Subjects were participants from the Korean Genome Epidemiology Study (KoGES), which was initiated in 2001 as a large-scale. A total of 4,210 women aged 39 to 70 were included in this study. Data were collected using self-administered questionnaires, anthropometric measurements, and blood chemical analysis...
September 2016: Preventive Nutrition and Food Science
Michael Medinger, Claudia Lengerke, Jakob Passweg
Acute myeloid leukemia (AML) is a biologically complex and molecularly and clinically heterogeneous disease, and its incidence is increasing as the population ages. Cytogenetic anomalies and mutation testing remain important prognostic tools for tailoring treatment after induction therapy. Despite major advances in understanding the genetic landscape of AML and its impact on the pathophysiology and biology of the disease, as well as the rapid development of new drugs, standard treatment options have not experienced major changes during the past three decades...
2016: Leukemia Research Reports
Cristina Villa Del Campo, Ghislaine Lioux, Rita Carmona, Rocío Sierra, Ramón Muñoz-Chápuli, Cristina Clavería, Miguel Torres
Myc is an essential regulator of cell growth and proliferation. Myc overexpression promotes the homeostatic expansion of cardiomyocyte populations by cell competition, however whether this applies to other cardiac lineages remains unknown. The epicardium contributes signals and cells to the developing and adult injured heart and exploring strategies for modulating its activity is of great interest. Using inducible genetic mosaics, we overexpressed Myc in the epicardium and determined the differential expansion of Myc-overexpressing cells with respect to their wild type counterparts...
October 18, 2016: Scientific Reports
Ihssane El Bouchikhi, Laila Bouguenouch, Fatima Zohra Moufid, Mohammed Iraqui Houssaini, Khadija Belhassan, Imane Samri, Ayoub Tahri Joutei, Karim Ouldim, Samir Atmani
OBJECTIVE: Secundum atrial septal defect (ASDII) has multifactorial etiology that is combination of environmental (e.g., mother's exposure to toxicity, ethnicity) and genetic causes. Aim of the present study was to screen a Moroccan population with ASDII for NKX2-5 variants and to assess risk factors that may contribute to emergence of the disorder. METHODS: Thirty-two non-syndromic ASDII patients were screened for NKX2-5 variants using direct sequencing of polymerase chain reactionamplified coding regions...
October 12, 2016: Anatolian Journal of Cardiology
Mauricio A Salinas-Santander, Elizabeth Bazan-Mendoza, Marisol Espinoza-Ruiz, Rocio Ortiz-Lopez, Adriana Bustamante, Celia N Sanchez-Dominguez
Cystic fibrosis (CF) is the most common autosomal recessive disease in the Caucasian population, but it has also been widely diagnosed in the Mexican population. Production of viscous secretions affects the secretory epithelia and the respiratory condition usually leads to death. The relationship between the CFTR genotype and the disease phenotype is not well understood. Other risk factors such as genetic and autoimmune influence the development of this disease. We analyzed the PTPN22 R620W polymorphism (+1858 C/T, rs2476601) in 78 DNA samples from CF patients and 232 healthy controls from northeast Mexico using the polymerase chain reaction-restriction fragment length (PCR-RFLP) method...
July 2016: Archives of Medical Research
César Hernández-Guerrero, Paulina Hernández-Chávez, Inés Romo-Palafox, Grecia Blanco-Melo, Alicia Parra-Carriedo, Ana Pérez-Lizaur
BACKGROUND AND AIMS: Oxidative disturbance is an important factor involved in the etiology of comorbidities associated with obesity. Genetic polymorphisms such as SOD1 -251A>G, SOD2 47 C>T, CAT -21A>T and CAT -262 C>T have been described to alter the activity of antioxidant enzymes. The aim of the present work was to analyze the association of the mentioned SNPs with obesity and their relationship with anthropometric and clinical variables in this group. METHODS: The study included 416 Mexican women (208 normal weight, NW and 208 subjects with obesity, OB)...
July 2016: Archives of Medical Research
Feifei Liu, Keith Dear, Lei Huang, Li Liu, Yun Shi, Shaofa Nie, Yisi Liu, Yuanan Lu, Hao Xiang
Colorectal cancer (CRC) is the most common malignancy in the human digestive system. Previous results regarding the association between microRNA-27a rs895819 polymorphisms and CRC risk are controversial. We therefore performed a meta-analysis of seven studies totaling 2230 cases and 2775 controls to systematically evaluate this association. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were obtained using a fixed-effects model. A moderate evidence for the association between mir-27a polymorphism and CRC risk was found under multiple genetic models (dominant model: OR = 1...
September 2016: Cancer Genetics
S Georgiadou, A Ortiz-Pelaez, M M Simmons, O Windl, M Dawson, P Neocleous, P Papasavva-Stylianou
The results of the study reported here are part of an ongoing integrated research programme aimed at producing additional, robust, evidence on the genetic resistance to classical scrapie in goats, with particular reference to codon 146. The study targeted animals aged ⩾6 years, which were born and raised in infected herds and were being culled for management reasons. A total of 556 animals were tested, and all positive animals (n = 117) were of the susceptible NN genotype. A total of 246 goats heterozygous or homozygous for putatively resistant alleles (S146 and D146) were screened with no positive results...
October 18, 2016: Epidemiology and Infection
Antonino Carbone, Annunziata Gloghini, Arnaldo Caruso, Paolo De Paoli, Riccardo Dolcetti
The pathogenesis of classical Hodgkin lymphoma (cHL) is still enigmatic, largely because its tumor cells, the so-called Hodgkin and Reed-Stenberg (HRS) cells, invariably reside in a prominent reactive microenvironment, are rare and therefore difficult to analyze. On the other hand, the broadly investigated cHL-derived cell lines are not unequivocally considered as suitable and representative models for this puzzling disease. Based on current knowledge, it appears that the cross talk between the tumour cells and the reactive infiltrate of the microenvironment is complex and that multiple mechanisms occur, making cHL a very heterogeneous disease...
October 17, 2016: International Journal of Cancer. Journal International du Cancer
Hua Jing, Jun-Xia Zhu, Hui-Fu Wang, Wei Zhang, Zhan-Jie Zheng, Ling-Li Kong, Chen-Chen Tan, Zi-Xuan Wang, Lin Tan, Lan Tan
Inositol polyphosphate-5-phosphatase (INPP5D) was reported to be associated with Alzheimer's disease (AD) through modulating the inflammatory process and immune response. A recent genome-wide association study discovered a new locus single nucleotide polymorphism (SNP, rs35349669) of INPP5D which was significantly associated with susceptibility to late-onset Alzheimer's disease (LOAD) in Caucasians. In this study, we investigated the relations between the INPP5D polymorphism rs35349669 and LOAD in Han Chinese population comprising 984 LOAD cases and 1352 healthy controls being matched for age and gender...
October 13, 2016: Oncotarget
Hassan Mirmonsef, Hanne D Hornum, John Jensen, Martin Holmstrup
Contaminated soil is a problem throughout the industrialized world, and a significant proportion of these sites are polluted with heavy metals such as copper. Ecological risk assessment of contaminated sites requires ecotoxicological studies with spiked soils as well as in-situ ecological observations. Here, we report laboratory and field assessment of copper toxicity for earthworms at a Danish site (Hygum) exclusively contaminated with an increasing gradient in copper from background to highly toxic levels (>1000mgkg(-1) dry soil)...
October 14, 2016: Ecotoxicology and Environmental Safety
Jem Ma Ahn, Chang Ha Kim, Soon Ho Um, Kyung Mee Kim, Tae Hyung Kim, Sun Young Yim, Hyuk Soon Choi, Eun Sun Kim, Bora Keum, Yeon Seok Seo, Hyung Joon Yim, Yoon Tae Jeen, Hong Sik Lee, Hoon Jai Chun, Chang Duck Kim, Ho Sang Ryu
BACKGROUND AND AIM: In a recent study, microsatellite variations (GCA tandem repeats) in the promoter region of the (kidney-type) glutaminase gene were associated with the development of hepatic encephalopathy (HE) in Spanish patients with cirrhosis. The objective of this study was to validate the relation between microsatellite variations in the glutaminase promoter region and the development of overt HE in Korean patients with liver cirrhosis. METHODS: We performed a prospective cohort study of 154 cirrhotic patients who underwent a glutaminase microsatellite study without previous overt HE history at baseline...
October 17, 2016: Journal of Gastroenterology and Hepatology
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