首页|癌相关基因多态性与甲状腺乳头状癌及碘营养的关联研究

癌相关基因多态性与甲状腺乳头状癌及碘营养的关联研究

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目的 甲状腺癌是最常见的甲状腺恶性肿瘤,约占全身恶性肿瘤的1%,其组织学分型以甲状腺乳头状癌(papillary thyroid carcinoma,PTC)为主.甲状腺癌的发生发展与遗传因素及环境因素均有关.本研究目的是探讨癌相关基因多态性与PTC及碘营养的关联.方法 共纳入613名研究对象(PTC组484例、良性肿瘤组129例).采用聚合酶链式反应(poly-merase chain reaction,PCR)分析TSHR、PDE8B、BRAF和TPO中10个基因位点的多态性.以疾病类型、病灶个数、淋巴结转移以及不同尿碘和不同血清碘浓度分组,研究基因多态性与上述因素的关联.结果 PTC组BRAF rs3748093突变型(AT+AA)所占比例显著高于良性肿瘤组.其余基因型在两组间未见显著统计学差异.在PTC患者中,以病灶个数分组,TSHR rs4903961突变型(CG+CC)在单个病灶中所占比例高于多个病灶;其余基因型与PTC的发展关联无显著统计学意义;当尿碘<100 μg/L时,PDE8B rs7714529纯合子携带率明显高于其他尿碘组;在尿碘>300 μg/L时,BRAF rs17623204纯合子携带率和TPO rs732608突变型(包括杂合型和纯合子)携带率明显高于其他尿碘组;当血清碘<45 μg/L时,BRAF rs17623204杂合型(AT)携带率明显高于其余血清碘组;其余基因型与碘营养水平无显著关联.结论 BRAF rs3748093 AT基因型与PTC易感性有关;TSHR rs4903961突变型(CG+CC)与PTC发展有关;PDE8B rs7714529纯合子(AA+GG)与低尿碘有关;BRAF rs17623204纯合子(TT+AA)和TPO rs732608突变型(CT+TT)与高尿碘有关;BRAF rs17623204杂合型与低血清碘有关.
Study on association of cancer-related gene polymorphisms with papillary thyroid carcinoma and iodine nutrition
Objective Thyroid cancer is the most common malignant tumor of the thyroid gland,accounting for about 1%of all malignant tumors in the body,and its main histological type is papillary thyroid carcinoma(PTC).The purpose of this study is to investigate the association between cancer-related gene polymorphisms and PTC and iodine nutrition.Methods A total of 613 participants(484 in the PTC group and 129 in the benign tumor group)were included in the case-control study.DNA was extracted,and 10 gene loci were selected from TSHR,PDE8B,BRAF and TPO to analyze their polymorphisms by polymerase chain reaction(PCR).In this study,PTCs were grouped according to the disease type,number of lesions,lymph node metastases,different urinary iodine and different serum iodine concentrations to study the association of gene polymorphisms with above factors.Results The proportion of BRAF rs3748093 mutant(AT+AA)in the PTC group was significantly higher than that in the benign tumor group.There were no statistically significant differences between the two groups for the remaining genotypes.In patients with PTC,group by number of lesions,TSHR rs4903961 mutant(CG+CC)accounted for a higher proportion of single lesions than multiplelesions;There was no significant association between the other genotypes and the occurrence and development of PTC;When the urine iodine<100 µg/L,the homozygous carrier rate of PDE8B rs7714529 was significantly higher than that of the other urinary iodine groups;When urinary iodine>300 pg/L,the homozygous carrier rate of BRAF rs17623204 and TPO rs732608 mutant(including heterozygous and homozygous)were significantly higher than that of the other urinary iodine groups;When serum iodine<45 pg/L,the carrier rate of BRAF rs17623204 heterozygous(AT)was significantly higher than that of the other serum iodine groups;The remaining genotypes were not significantly associated with iodine nutrient levels.Conclusion BRAF rs3748093 AT genotype is associated with PTC susceptibility;TSHR rs4903961 mutant(CG+CC)is associated with the development of PTC;Homozygous for PDE8B rs7714529(AA+GG)was associated with low urinary iodine;BRAF rs17623204 homozygous(TT+AA)and TPO rs732608 mutant(CT+TT)were associated with high urinary iodine;BRAF rs17623204 heterozygous is associated with low serum iodine.

Papillary thyroid cancerIodine nutritionGene polymorphismsUrine iodineSerum iodine

张亚舒、何倩、贺妍、范丽珺

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中国疾病预防控制中心地方病控制中心,哈尔滨医科大学,黑龙江 150081

山东第一医科大学

甲状腺乳头状癌 碘营养 基因多态性 尿碘 血清碘

2024

中国地方病防治杂志
中华预防医学会,吉林省地方病第二防治研究所,吉林省地方病第一防治研究所

中国地方病防治杂志

影响因子:1.289
ISSN:1001-1889
年,卷(期):2024.39(6)