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Background  C-C motif Chemokine Ligand 3 Like 1 ( CCL3L1 ) is a multiallelic copy number variable, which plays a crucial role in immunoregulatory and hosts defense through the production of macrophage inflammatory protein (MIP)-1α. Variable range of the  CCL3L1  copies from 0 to 14 copies have been documented in several different populations. However, there is still lack of report on the range of  CCL3L1  copy number exclusively among Malaysians who are a multi-ethnic population. Thus, this study aims to extensively examine the distribution of  CCL3L1  copy number in the three major populations from Malaysia namely Malay, Chinese and Indian. A diploid copy number of  CCL3L1  for 393 Malaysians (Malay = 178, Indian = 90, and Chinese = 125) was quantified using Paralogue Ratio Tests (PRTs) and then validated with microsatellites analysis.    Results  To our knowledge, this is the first report on the  CCL3L1  copy number that has been attempted among Malaysians and the Chinese ethnic group exhibits a diverse pattern of  CCL3L1  distribution copy number from the Malay and Indian ( p  < 0.0001). The  CCL3L1  ranged from 0 to 8 copies for both the Malay and Indian ethnic groups while 0 to 10 copies for the Chinese ethnic. Consequently, the  CCL3L1  copy number among major ethnic groups in the Malaysian population is found to be significantly varied when compared to the European population ( p  < 0.0001). The mean/median reported for the Malay, Chinese, Indian, and European are 2.759/2.869, 3.453/3.290, 2.437/1.970 and 2.001/1.940 respectively.    Conclusion  This study reveals the existence of genetic variation of  CCL3L1  in the Malaysian population, and suggests by examining genetic diversity on the ethnicity, and specific geographical region could help in reconstructing human evolutionary history and for the prediction of disease risk related to the  CCL3L1  copy number.

Copy number variation of CCL3L1 among three major ethnic groups in Malaysia