Distribution of 42-bp variable tandem repeat polymorphism of the cold-induced autoinflammatory syndrome 1 (CIAS1) gene in eight human populations.

We recently identified a 42bp Variable Number of Tandem Repeats polymorphism in intron 4 of Cold-induced autoinflammatory syndrome 1 gene (CIAS1 42bp-VNTR), which are associated with CIAS1 gene expression and some inflammatory disease. The aim of our study is to investigate whether variability of CIAS1 42bp-VNTR allele is difference among races. A total of 1291 subjects from 7 populations (178 Chinese, 95 Korean, 614 Mongolian, 49 Bangladesh, 72 Sri Lanka, 192 African and 91 European) was genotyped on CIAS1 42bp-VNTR polymorphism, which was also compared to previous genotyping data from 508 Japanese subjects. A total of 11 genotypes and 5 alleles were found in 8 populations. The range of allele frequencies of CIAS1∗6, CIAS1∗7, CIAS1∗9, CIAS1∗12, and CIAS1∗13 were 0.000-0.167, 0.056-0.248, 0.008-0.203, 0.570-0.923, and 0.000-0.104 in eight populations. The CIAS1∗12 was the most common allele among all populations. The longest allele CIAS1∗13 in African population was extremely high frequent at 0.104 compared to other population. While shortest allele CIAS1∗6 was not observed Sri Lankan and African. Frequency (0.924) in the Sri Lankan population. These results showed that the CIAS1 42bp-VNTR polymorphism could represent genetic diversity among different human populations.