Fig. 4
Core promoter variation in DNA damage repair genes and their effects in gene expression. a. Variant distribution in core promoters of DNA damage repair genes. Of the 177 genes involved with DNA damage repair, 94 genes had variants in their core promoters with the highest in YRI and the lowest in KHV. b. Variants in MSH3 core promoter. Six variants were distributed 53 times in MSH3 core promoter in 19 populations, of which 5 variants were present in 18 populations. c. Variants in MSH3 core promoter alter MSH3 expression. eQTL test showed that the variant rs151182735 at − 76 can decrease MSH3 expression level in thyroid (p = 2.1 × 10− 28), and the variant rs1105525 at + 42 can increase MSH3 expression level in transformed fibroblast cells (p = 4.0 × 10− 9)