Correlation between polymorphisms of BRAF gene and papillary thyroid carcinoma.
BACKGROUND
Papillary thyroid carcinoma (PTC), which accounts for 80% of all thyroid cancers, has an increasing incidence over these years. Single nucleotide polymorphisms (SNPs) of BRAF were considered to be one of well-established risk factors leading to development of PTC. The aim of this study was to investigate whether the common mutations of BRAF could elevate significantly the risk of PTC in a Chinese population.


METHODS
Four SNPs (rs11762469, rs17623204, rs1267636 and rs3748093) of BRAF were selected through our filter by Haploview 4.2 software with HapMap databases. We used the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to genotype the four SNPs in blood samples of 618 subjects (206 patients with PTC and 412 healthy controls). The correlation between BRAF polymorphisms and PTC risk was assessed using student t-test and chi-square test.


RESULTS
The results showed that mutation in rs3748093 was significantly associated with an increased risk of PTC in allele model (A allele vs. T allele, OR = 1·68, 95% CI = 1·16-2·43, P = 0·006), dominant model (TA + AA vs TT, OR = 1·64, 95% CI = 1·08-2·48, P = 0·019) and homozygote model (AA vs. TT, OR = 2·94, 95% CI = 1·00-8·61, P = 0·040). However, the other three SNPs (rs11762469, rs17623204 and rs1267636) were shown to have no association with the risk of PTC.


CONCLUSIONS
Our results indicated that polymorphism of rs3748093*A was significantly correlated with an increased risk of PTC in a Chinese population. Further investigation on the aetiological mechanism of PTC is needed to validate our results.
Department of Oncology, Provincial Hospital Affiliated to Shandong University, Jinan, China.
Rui
R
Jiang
Department of Ophthalmology, Provincial Hospital Affiliated to Shandong University, Jinan, China.
Chunming
C
Zhao
Department of Thyroid and Breast Surgery, Provincial Hospital Affiliated to Shandong University, Jinan, China.
Hao
H
Xu
Department of Pathology, Provincial Hospital Affiliated to Shandong University, Jinan, China.
Miaoqing
M
Zhao
Department of Oncology, Provincial Hospital Affiliated to Shandong University, Jinan, China.
Xiaogang
X
Sun
Department of Oncology, Provincial Hospital Affiliated to Shandong University, Jinan, China.
Xinyu
X
Wang
Department of Oncology, Provincial Hospital Affiliated to Shandong University, Jinan, China.
Wei
W
Song
D000328:Adult; D044466:Asian People / Q000235:genetics; D002291:Carcinoma, Papillary / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D002681:China; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D012307:Risk Factors; D013964:Thyroid Neoplasms / Q000208:ethnology / Q000235:genetics* / Q000473:pathology
C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf