The Association of Five Novel Variants of TLR7 Gene with Some Biochemical Markers in Breast Cancer Patients from Iraqi Women

Background: The TLR7 gene carries multiple polymorphisms that are likely associated with human diseases, including cancer. The study aimed to shed light on the relationship between the variation of the TLR7 gene and serum level of biochemical markers (CA15-3, CEA, CA125, and CA27-29) in Iraqi women with breast cancer. Methods: a case-control study involving 100 women volunteers: 50 with breast cancer as a patient group and 50 who appeared to be healthy as a control group. The ages of all participants were ranged between 29 to 75 years. This study was conducted from November 2022 to April 2024 at the Department of Clinical Laboratories, College of Applied Medical Sciences, University of Kerbala . Sanger sequencing was used to investigate variants of the TLR7 gene. The enzyme-linked immunosorbent assay (ELISA) method was used to evaluate the levels of CA15-3, CEA, CA125, and CA27-29 in serum. Results: Presence of 5 novel unregistered variants in the Intron 2 region. It was found that a significant effect of TLR7 - 12871749 G\C variant (SNP) of the Intron region on serum level of CEA (point biserial correlation coefficient =-0.396, p-value=0.03). A significant effect of TLR7 - 12871764 A\G variant of the Intron region on serum level of CA 15-3 (point biserial correlation coefficient =-0.385, p-value=0.03). The results showed no significant, weak, moderate, or strong associations between all other types of variants when tested individually and the four biochemical markers under study. Conclusion: Among the five new variations, 12871749 G\C and 12871764 A\G may be the most significant variants because there is a statistical association with some biochemical markers, therefore, Future research should delve deeper into the role of TLR7 polymorphisms in the fields of tumor immunology, which may open new perspective in early diagnosis and prevention of cancer.