Khan Mosin S, Pandith Arshad A, Masoodi Shariq R, Khan Shoukat H, Rather Tanveer A, Andrabi Khursid I, Mudassar Syed
Department of Clinical Biochemistry, Sher-I-Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, India.
Advanced Centre for Human Genetics, Sher-I-Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, India.
Cancer Biomark. 2015;15(4):459-65. doi: 10.3233/CBM-150485.
Among various polymorphic variants of TP53 gene, codon 72 polymorphism (Arg72Pro) has been found to be associated with cancer susceptibility, but only few studies have investigated their effect on thyroid cancer risk.
A case control study was conducted to elucidate the possible role of this SNP as risk factor in thyroid cancer development and to examine its correlation with various clinicopathological variables.
In this study, we tested the genotype distribution by PCR-RFLP in 140 thyroid cancer patients and 200 cancer-free controls from Kashmir Valley.
Genotype frequencies of Arg/Arg (GG), Arg/Pro (GC), and Pro/Pro (CC) genotypes among cases were 0.286, 0.343 and 0.371 while in controls 0.45, 0.37 and 0.18 respectively. Proline allele frequency was significantly higher than arginine frequency in patient group (OR = 2.06, 95% C.I = 1.5-2.8). Significant association was found between variant genotype of codon 72 of TP53 gene and young age group, female gender, urban dwellers, non-smokers and patients with elevated TSH levels (P < 0.05).
It is evident from our study that Arg72Pro SNP of TP53 gene is connected with higher susceptibility to thyroid cancer especially in young age group, female gender, non-smokers and patients with elevated TSH levels, hence, implicated in thyroid carcinogenesis.
在TP53基因的各种多态性变体中,已发现密码子72多态性(Arg72Pro)与癌症易感性相关,但仅有少数研究调查了其对甲状腺癌风险的影响。
开展一项病例对照研究,以阐明该单核苷酸多态性作为甲状腺癌发生风险因素的可能作用,并检验其与各种临床病理变量的相关性。
在本研究中,我们采用聚合酶链反应-限制性片段长度多态性方法检测了克什米尔山谷地区140例甲状腺癌患者和200例无癌对照者的基因型分布。
病例组中Arg/Arg(GG)、Arg/Pro(GC)和Pro/Pro(CC)基因型的频率分别为0.286、0.343和0.371,而对照组中分别为0.45、0.37和0.18。患者组中脯氨酸等位基因频率显著高于精氨酸频率(比值比=2.06,95%可信区间=1.5-2.8)。发现TP53基因密码子72的变异基因型与年轻年龄组、女性、城市居民、不吸烟者以及促甲状腺激素水平升高的患者之间存在显著关联(P<0.05)。
我们的研究表明,TP53基因的Arg72Pro单核苷酸多态性与甲状腺癌的较高易感性相关,尤其是在年轻年龄组、女性、不吸烟者以及促甲状腺激素水平升高的患者中,因此与甲状腺癌发生有关。