Konstantinova D, Kadiyska T, Sokolova V, Kaneva R, Mirchev M, Savov A, Aleksandrova A, Nedin D, Kostadinov E, Damyanov D, Kremensky I, Mitev V
Molecular Medicine Center, Medical University, Sofia and University Hospital of Obstetrics and Gynaecology "Maichin Dom", 2 Zdrave Street, 1431 Sofia, Bulgaria.
J BUON. 2010 Apr-Jun;15(2):314-7.
Germline variants of the CHEK2 gene have been shown to act as low-penetrance cancer susceptibility alleles for a wide range of human malignancies. CHEK2 I157T has particularly been linked to colorectal cancer (CRC) risk. We aimed at establishing the population frequency and contribution of this variant to colorectal carcinogenesis in Bulgaria.
We have genotyped 802 population controls and 343 CRC patients from Bulgaria for the CHEK2 I157T variant.
Heterozygous were 9 of 343 patients (2.62%, odds ratio/OR=1.0, 95% confidence interval/CI = 0.42 - 2.33, p=0.99% and 21 of 802 controls (2.62%). Higher frequencies were found among patients with multiple polyposis (2/40, 5%, p=0.28) and the rarer mucinous histology (1/11, 9.09%, p= 0.26).
We conclude that CHEK2 I157T is not relevant for CRC risk in Bulgaria, but studies on a larger scale might help evaluate its possible significance in respect to disease characteristics.
CHEK2基因的种系变体已被证明是多种人类恶性肿瘤的低 penetrance 癌症易感性等位基因。CHEK2 I157T 尤其与结直肠癌（CRC）风险相关。我们旨在确定该变体在保加利亚人群中的频率及其对结直肠癌发生的贡献。
我们对来自保加利亚的802名人群对照和343名CRC患者进行了CHEK2 I157T变体的基因分型。
343名患者中有9名杂合子（2.62%，优势比/OR = 1.0，95%置信区间/CI = 0.42 - 2.33，p = 0.99%），802名对照中有21名杂合子（2.62%）。在多发性息肉病患者（2/40，5%，p = 0.28）和较罕见的黏液性组织学患者（1/11，9.09%，p = 0.26）中发现频率较高。
我们得出结论，CHEK2 I157T与保加利亚的CRC风险无关，但更大规模的研究可能有助于评估其在疾病特征方面的可能意义。
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