Affiliations: [a] Genetic of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran | [b] Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran
Correspondence:
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Corresponding author: Mohammad Hashemi, Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran. Tel.: +98 541 3235122; E-mail:[email protected];[email protected]
Abstract: Nuclear factor kappaB (NF-kB) plays a key role in mammary gland development
and breast cancer (BC) progression. A functional -94 insertion/deletion ATTG
polymorphism (rs28362491) in the promoter of the NFKB1 gene was reported to
affect NF-KB1 expression and confer susceptibility to different types of
cancer. The current study aimed to assess the association of NFKB1 -94
insertion/deletion ATTG promoter polymorphism and BC risk in an Iranian
population. A total of 439 subjects including on 236 BC patients and 203
healthy women were recruited. The NF-KB1 -94ins/del ATTG
polymorphism was genotyped by Allele-Specific polymerase chain reaction
(AS-PCR) method. Our results demonstrated that the NF-KB1 -94ins/del
ATTG polymorphism was associated with a reduced risk of BC in Codominant
(Ins/Ins vs. Del/Del: OR = 0.33, 95%CI = 0.17-0.64; P= 0.001), dominant
(Ins/Ins vs. Ins/Del+Del/Del: OR = 0.64, 95%CI = 0.42-0.97; P= 0.027) and
recessive (Ins/Del+Del/Del vs. Del/Del: OR = 0.40, 95%CI = 0.21-0.75;
P= 0.002) tested inheritance models. Additionally, the Del allele of
NF-KB1 -94ins/del ATTG variation with a higher prevalence in the
control group compared to the BC patients (43.3% vs. 33.5%) was
associated with a decreased risk of BC (OR = 0.66, 95%CI = 0.50-0.86,
P= 0.003). In conclusion, our findings for the first time, suggest that the
NF-KB1 -94ins/del Del allele and Del/Del genotype were associated
with a reduced risk of BC which may contribute as protective factors against BC.
Keywords: NF-kB, breast cancer, deletion polymorphism
