Significant association of TOX3/LOC643714 locus-rs3803662 and breast cancer risk in a cohort of Iranian population

Amir Tajbakhsh, Fahimeh Afzal Javan, Mahdi Rivandi, Atefeh Moezzi, Soheila Abedini, Mahla Asghari, Zahra Farjami, Hosein Soltanian, Fatemeh Homaei Shandiz, Mohammad Mahdi Kooshyar, Alireza Pasdar* (Corresponding Author)

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


Genome-wide association studies normally focus on low penetrance and moderate to high-frequency single nucleotide polymorphisms (SNPs), which lead to genetic susceptibility to breast cancer. In this regard, the T allele of rs3803662 has been associated with breast cancer risk and with lower expression level of TOX3. We aimed to assess the risk of breast cancer associated with this polymorphism in an Iranian population. Using Tetra Primer ARMS PCR, rs3803662 was analyzed in a total of 943 individuals (430 cases and 513 healthy controls form North East of Iran). Allele frequencies and genotype distribution were analyzed in case and control samples to find out any association using the Chi-squared test and Logistic regression. All cases were pathologically confirmed; all controls were mainly healthy individuals. Genotype frequencies were found to be in agreement with HWE in controls and cases. TOX3-rs3803662 SNP was associated with breast cancer risk in our study (T vs. C allele contrast model: OR 1.36, 95% CI 1.12–1.64, P value = 0.002; TT vs. CT + TT dominant model: OR 0.67, 95% CI 0.51–0.87, P value = 0.003; TT vs. CT + CC recessive model: OR 1.54, 95% CI 1.02–2.30, P vlue = 0.036). Moreover, after adjusting for age, BMI, history of previous cancer and also family history of cancer, all results, except for the recessive model, were remained significant. TOX3-rs3803662, may confer some degrees of risk of breast cancer in Iranian population. This finding is in line with similar results in other populations. It highlights the importance of TOX3 pathway in tumorigenesis.

Original languageEnglish
Pages (from-to)805-811
Number of pages7
JournalMolecular Biology Reports
Early online date4 Dec 2018
Publication statusPublished - 1 Feb 2019

Bibliographical note

This study was supported by Mashhad University of Medical Sciences (Grant No. 940789).


  • Breast carcinoma
  • Cancer risk
  • Outcomes
  • TOX3/ TNRC9


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