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Haber M Platt DE Ashrafian Bonab M Youhanna SC Soria-Hernanz DF Martínez-Cruz B Douaihy B Ghassibe-Sabbagh M Rafatpanah H Ghanbari M Whale J Balanovsky O Wells RS Comas D Tyler-Smith C Zalloua PA;Genographic Consortium 《PloS one》2012,7(3):e34288
Afghanistan has held a strategic position throughout history. It has been inhabited since the Paleolithic and later became a crossroad for expanding civilizations and empires. Afghanistan's location, history, and diverse ethnic groups present a unique opportunity to explore how nations and ethnic groups emerged, and how major cultural evolutions and technological developments in human history have influenced modern population structures. In this study we have analyzed, for the first time, the four major ethnic groups in present-day Afghanistan: Hazara, Pashtun, Tajik, and Uzbek, using 52 binary markers and 19 short tandem repeats on the non-recombinant segment of the Y-chromosome. A total of 204 Afghan samples were investigated along with more than 8,500 samples from surrounding populations important to Afghanistan's history through migrations and conquests, including Iranians, Greeks, Indians, Middle Easterners, East Europeans, and East Asians. Our results suggest that all current Afghans largely share a heritage derived from a common unstructured ancestral population that could have emerged during the Neolithic revolution and the formation of the first farming communities. Our results also indicate that inter-Afghan differentiation started during the Bronze Age, probably driven by the formation of the first civilizations in the region. Later migrations and invasions into the region have been assimilated differentially among the ethnic groups, increasing inter-population genetic differences, and giving the Afghans a unique genetic diversity in Central Asia. 相似文献
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Saade S Cazier JB Ghassibe-Sabbagh M Youhanna S Badro DA Kamatani Y Hager J Yeretzian JS El-Khazen G Haber M Salloum AK Douaihy B Othman R Shasha N Kabbani S Bayeh HE Chammas E Farrall M Gauguier D Platt DE Zalloua PA;FGENTCARD consortium 《PloS one》2011,6(12):e29427
Genome wide association studies (GWAS) and their replications that have associated DNA variants with myocardial infarction (MI) and/or coronary artery disease (CAD) are predominantly based on populations of European or Eastern Asian descent. Replication of the most significantly associated polymorphisms in multiple populations with distinctive genetic backgrounds and lifestyles is crucial to the understanding of the pathophysiology of a multifactorial disease like CAD. We have used our Lebanese cohort to perform a replication study of nine previously identified CAD/MI susceptibility loci (LTA, CDKN2A-CDKN2B, CELSR2-PSRC1-SORT1, CXCL12, MTHFD1L, WDR12, PCSK9, SH2B3, and SLC22A3), and 88 genes in related phenotypes. The study was conducted on 2,002 patients with detailed demographic, clinical characteristics, and cardiac catheterization results. One marker, rs6922269, in MTHFD1L was significantly protective against MI (OR=0.68, p=0.0035), while the variant rs4977574 in CDKN2A-CDKN2B was significantly associated with MI (OR=1.33, p=0.0086). Associations were detected after adjustment for family history of CAD, gender, hypertension, hyperlipidemia, diabetes, and smoking. The parallel study of 88 previously published genes in related phenotypes encompassed 20,225 markers, three quarters of which with imputed genotypes The study was based on our genome-wide genotype data set, with imputation across the whole genome to HapMap II release 22 using HapMap CEU population as a reference. Analysis was conducted on both the genotyped and imputed variants in the 88 regions covering selected genes. This approach replicated HNRNPA3P1-CXCL12 association with CAD and identified new significant associations of CDKAL1, ST6GAL1, and PTPRD with CAD. Our study provides evidence for the importance of the multifactorial aspect of CAD/MI and describes genes predisposing to their etiology. 相似文献
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Berbéri Antoine Sabbagh Joseph Bou Assaf Rita Ghassibe-Sabbagh Michella Al-Nemer Fatima El Majzoub Rania Fayyad-kazan Mohammad Badran Bassam 《Cell and tissue banking》2021,22(3):409-417
Cell and Tissue Banking - Mesenchymal stem cells, being characterized by high self-renewal capacity and multi-lineage differentiation potential, are widely used in regenerative medicine especially... 相似文献
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Hager J Kamatani Y Cazier JB Youhanna S Ghassibe-Sabbagh M Platt DE Abchee AB Romanos J Khazen G Othman R Badro DA Haber M Salloum AK Douaihy B Shasha N Kabbani S Sbeite H Chammas E el Bayeh H Rousseau F Zelenika D Gut I Lathrop M Farrall M Gauguier D Zalloua PA;FGENTCARD Consortium 《PloS one》2012,7(6):e38663
The manifestation of coronary artery disease (CAD) follows a well-choreographed series of events that includes damage of arterial endothelial cells and deposition of lipids in the sub-endothelial layers. Genome-wide association studies (GWAS) of multiple populations with distinctive genetic and lifestyle backgrounds are a crucial step in understanding global CAD pathophysiology. In this study, we report a GWAS on the genetic basis of arterial stenosis as measured by cardiac catheterization in a Lebanese population. The locus of the phosphatase and actin regulator 1 gene (PHACTR1) showed association with coronary stenosis in a discovery experiment with genome wide data in 1,949 individuals (rs9349379, OR?=?1.37, p?=?1.57×10(-5)). The association was replicated in an additional 2,547 individuals (OR?=?1.31, p?=?8.85×10(-6)), leading to genome-wide significant association in a combined analysis (OR?=?1.34, p?=?8.02×10(-10)). Results from this GWAS support a central role of PHACTR1 in CAD susceptibility irrespective of lifestyle and ethnic divergences. This association provides a plausible component for understanding molecular mechanisms involved in the formation of stenosis in cardiac vessels and a potential drug target against CAD. 相似文献
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Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas") 总被引:3,自引:0,他引:3
Brouillard P Boon LM Mulliken JB Enjolras O Ghassibé M Warman ML Tan OT Olsen BR Vikkula M 《American journal of human genetics》2002,70(4):866-874
Glomuvenous malformations (GVMs) are cutaneous venous lesions characterized by the presence of smooth-muscle--like glomus cells in the media surrounding distended vascular lumens. We have shown that heritable GVMs link to a 4--6-cM region in chromosome 1p21-22. We also identified linkage disequilibrium that allowed a narrowing of this VMGLOM locus to 1.48 Mb. Herein, we report the identification of the mutated gene, glomulin, localized on the basis of the YAC and PAC maps. An incomplete cDNA sequence for glomulin had previously been designated "FAP48," for "FKBP-associated protein of 48 kD." The complete cDNA for glomulin contains an open reading frame of 1,785 nt encoding a predicted protein of 68 kD. The gene consists of 19 exons in which we identified 14 different germline mutations in patients with GVM. In addition, we found a somatic "second hit" mutation in affected tissue of a patient with an inherited genomic deletion. Since all but one of the mutations result in premature stop codons, and since the localized nature of the lesions could be explained by Knudson's two-hit model, GVMs are likely caused by complete loss of function of glomulin. The abnormal phenotype of vascular smooth-muscle cells (VSMCs) in GVMs suggests that glomulin plays an important role in differentiation of these cells--and, thereby, in vascular morphogenesis--especially in cutaneous veins. 相似文献
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Santiago Justo Arevalo Daniela Zapata Sifuentes Andrea Cuba Portocarrero Michella Brescia Retegui Claudia Monge Pimentel Layla Farage Martins Paulo Marques Pierry Carlos Morais Piroupo Alcides Guerra Santa Cruz Mauro Quiones Aguilar Chuck Shaker Farah Joo Carlos Setubal Aline Maria da Silva 《Applied and environmental microbiology》2022,88(14)
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Ghassibe-Sabbagh M Desmyter L Langenberg T Claes F Boute O Bayet B Pellerin P Hermans K Backx L Mansilla MA Imoehl S Nowak S Ludwig KU Baluardo C Ferrian M Mossey PA Noethen M Dewerchin M François G Revencu N Vanwijck R Hecht J Mangold E Murray J Rubini M Vermeesch JR Poirel HA Carmeliet P Vikkula M 《American journal of human genetics》2011,88(2):2204-161
Cranial neural crest (CNC) is a multipotent migratory cell population that gives rise to most of the craniofacial bones. An intricate network mediates CNC formation, epithelial-mesenchymal transition, migration along distinct paths, and differentiation. Errors in these processes lead to craniofacial abnormalities, including cleft lip and palate. Clefts are the most common congenital craniofacial defects. Patients have complications with feeding, speech, hearing, and dental and psychological development. Affected by both genetic predisposition and environmental factors, the complex etiology of clefts remains largely unknown. Here we show that Fas-associated factor-1 (FAF1) is disrupted and that its expression is decreased in a Pierre Robin family with an inherited translocation. Furthermore, the locus is strongly associated with cleft palate and shows an increased relative risk. Expression studies show that faf1 is highly expressed in zebrafish cartilages during embryogenesis. Knockdown of zebrafish faf1 leads to pharyngeal cartilage defects and jaw abnormality as a result of a failure of CNC to differentiate into and express cartilage-specific markers, such as sox9a and col2a1. Administration of faf1 mRNA rescues this phenotype. Our findings therefore identify FAF1 as a regulator of CNC differentiation and show that it predisposes humans to cleft palate and is necessary for lower jaw development in zebrafish. 相似文献
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