GA GENOTYPE OF THE ARG280HIS POLYMORPHISM ON
THE XRCC1 GENE: GENETIC SUSCEPTIBILITY GENOTYPE
IN DIFFERENTIATED THYROID CARCINOMAS?
Kirnap NG1,*, Tutuncu NB1,2, Yalcin Y2, Cebi HPB2, Tutuncu T2,3, Nar A1, Verdi H2, Atac FB2
*Corresponding Author: Nazlı G. Kirnap, M.D., Department of Endocrinology and Metabolism,
Başkent University Faculty of Medicine, Taskent Caddesi No. 77, Bahcelievler, 06490, Ankara, Turkey.
Tel.: +90-(0)312-203-6868. Fax: +90-(0)312-304-2700. E-mail: kirnapnazli@hotmail.com
page: 73
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Abstract
Differentiated thyroid carcinomas (DTC) are the most
common form of endocrine malignancies. The role of genetic
variations in the development of papillary thyroid
carcinoma (PTC) is approximately 60.0-70.0%. The X-ray
repair cross-complementing group 1 (XRCC1) protein has
an important role in DNA repair mechanisms and genomic
polymorphisms of XRCC1 gene affect the function of the
protein. In the present case-control study, we aimed to
compare the genotype frequency distributions of XRCC1
single nucleotide polymorphisms (SNPs) in terms of the
presence of other risk factors (Hashimoto’s thyroiditis,
smoking, obesity, radiation exposure) in patients with
thyroid nodules who had fine-needle aspiration biopsy
(FNAB) and/or thyroid surgery due to thyroid cancer.
The genotype frequency distributions of three common
XRCC1 SNPs (Arg194Trp, Arg399Gln, Arg280His) were
compared to those with DTC (n = 228), benign thyroid
nodules (BTN, n = 100) and healthy controls (n = 93) in
terms of certain pre defined risk factors such as the presence
of Hashimoto’s thyroiditis, smoking, obesity, a family
history of thyroid cancer and radiation exposure. The
frequency of the GA genotype of Arg280His in DTC cases
was found to be higher than in those with BTN and the
healthy control group (p <0.001). The DTC group had the
lowest frequency of AA genotype of Arg280His (35.5%,
p <0.001). Among those with a family history of thyroid
cancer, 78.9% had a GA genotype and 21.1% had the AA
genotype of Arg280His (p = 0.004). The Arg280His GA
genotype was more common in DTC than in cancer-free
controls. The GA genotype frequency was also high in
DTC cases with a family history of thyroid cancer
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