title: Analysis of CCR5 gene polymorphisms in 321 healthy Saudis using Next Generation Sequencing.
abstract: OBJECTIVE
  To investigate the extent of CCR5 polymorphism in the healthy Saudi population.
  
  
  METHODS
  A total of 321 healthy Saudi individuals were sequenced using the ion Ampliseq™ Exome kit (Life Technologies, USA) on genomic DNA following manufacturer's protocol. Whole Exome Sequencing (WES) reads were aligned to the human reference genome (hg19 build) with Torrent Suite Software (v5.0.2) and the variants were called using the Torrent Variant Caller plugin (v5.0) and imported into Ion Reporter Server (v5.0) for the annotation. CCR5 coding exons variants were filtered and checked against the NHLBI GO Exome Sequencing Project (NHLBI), NCBI Reference dbSNPs database, 1000 genomes and Exome Aggregation Consortium datasets (ExAC).
  
  
  RESULTS
  A total of 475 variants were identified. Table 1 shows polymorphisms/mutations detected within exons that introduced an amino acid change, deletion or copy number variants (CNV). Three mutations are predicted to influence CCR5 function, including the 32bp deletion (Rs333). Four polymorphisms were detected, plus two CNV.
  
  
  CONCLUSIONS
  This is the first report on sequencing the full CCR5 gene using NGS in the Saudi population. Here we demonstrate seven polymorphisms/mutations that were reported before. All were detected within very low frequency including the delta 32 mutation. However, we report for the first time copy number variants at two CCR5 gene locations; 45072265 and 38591712.
authors.affiliation: Pathology and Laboratory Medicine Department, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia. Electronic address: balwim@ngha.med.sa.
authors.forename: Mohammed A
authors.initials: MA
authors.lastname: Al Balwi
authors.affiliation: College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
authors.forename: Ali I
authors.initials: AI
authors.lastname: Hadadi
authors.affiliation: Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
authors.forename: Wardah
authors.initials: W
authors.lastname: Alharbi
authors.affiliation: Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
authors.forename: Mariam
authors.initials: M
authors.lastname: Ballow
authors.affiliation: Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
authors.forename: Abdulrahman
authors.initials: A
authors.lastname: AlAsiri
authors.affiliation: Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
authors.forename: Abdulkareem
authors.initials: A
authors.lastname: AlAbdulrahman
authors.affiliation: Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
authors.forename: Udayaraja
authors.initials: U
authors.lastname: G K
authors.affiliation: Medical Genomics Research Department, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Aldrees
authors.affiliation: Health Sciences Research Center, Princes Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.
authors.forename: Ibrahim
authors.initials: I
authors.lastname: AlAbdulkareem
authors.affiliation: Pathology and Laboratory Medicine Department, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
authors.forename: Ali H
authors.initials: AH
authors.lastname: Hajeer
mesh_terms: D005075:Biological Evolution; D019295:Computational Biology; D005828:Genetics, Population; D064368:Healthy Volunteers; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D019713:Receptors, CCR5 / Q000235:genetics*; D012529:Saudi Arabia; D017384:Sequence Deletion / Q000235:genetics
chemical_list: C584933:CCR5 protein, human; D019713:Receptors, CCR5