title: Identification of sequence variants in the CCL3 chemokine gene family in the HapMap West African reference population.
abstract: Gene copy number variation (CNV) of the CC Chemokine ligand 3-Like-1 (CCL3L1) gene located on chromosome 17q12 has been associated with many diseases, including viral infections and autoimmune diseases. High sequence homology between CCL3L1 and three other related genes within the same cluster, CCL3, CCL3L2, and CCL3L3, make it difficult to determine the copy number of each gene as well as distinguishing variants within each gene versus between genes. We identified a total of 50SNPs, 31 known and 19 novel SNPs, in a subset of West Africa Reference (Yoruba individuals from Ibadan, Nigeria (YRI)) samples from HapMap. One of these previously unidentified variations is a non-synonymous change while several other unreported variations are located near potential regulatory sites. The variations identified in these immune-related genes from this study will shed light in the understanding of both structural and nucleotide polymorphisms that can be used in association studies of diseases in populations.
authors: Department of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, USA.
authors: Rodney T
authors: RT
authors: Perry
authors: Department of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, USA.
authors: Mawuli K
authors: MK
authors: Nyaku
authors: Department of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, USA.
authors: Brahim
authors: B
authors: Aissani
authors: Department of Epidemiology, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address: sshrestha@uab.edu.
authors: Sadeep
authors: S
authors: Shrestha
mesh_terms: D044383:Black People; D054405:Chemokine CCL3 / Q000145:classification / Q000235:genetics* / Q000276:immunology; D018628:Gene Dosage; D060148:HapMap Project; D006801:Humans; D009549:Nigeria; D020641:Polymorphism, Single Nucleotide
chemical_list: C515429:CCL3 protein, human; D054405:Chemokine CCL3
keywords: CCL3 gene family; CCL3L1/CCL3L3; Chemokine; Copy number variation; Sequence variants