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Frontiers of Medicine

ISSN 2095-0217

ISSN 2095-0225(Online)

CN 11-5983/R

邮发代号 80-967

2019 Impact Factor: 3.421

Frontiers of Medicine  2014, Vol. 8 Issue (1): 113-117   https://doi.org/10.1007/s11684-014-0310-x
  RESEARCH ARTICLE 本期目录
Are the SNPs of NKX2-1 associated with papillary thyroid carcinoma in the Han population of Northern China?
Are the SNPs of NKX2-1 associated with papillary thyroid carcinoma in the Han population of Northern China?
Lizhe Ai1, Yaqin Yu1, Xiaoli Liu2, Chong Wang1, Jieping Shi1, Hui Sun2, Qiong Yu1()
1. Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun 130021, China; 2. Jilin Provincial Key Laboratory of Surgical Translational Medicine, Department of Thyroid and Parathyroid Surgery, China-Japan Union Hospital, Jilin University, Changchun 130033, China
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Abstract

Papillary thyroid carcinoma (PTC) is one of the most common tumors of the thyroid gland. The common risk factors of PTC include ionizing radiation, positive family history, and thyroid nodular disease. PTC was identified in Europeans by conducting a genome-wide association study, and a strong association signal with PTC was observed in rs944289 and NKX2-1 (located at the 14q13.3 locus), which was probably the genetic risk factor of PTC. This study aimed to examine the association of this gene with PTC in Chinese. A total of 354 patients with PTC and 360 healthy control subjects from the Han population of Northern China were recruited in the study. These individuals were genotyped to determine rs12589672, rs12894724, rs2076751, and rs944289. The association of rs944289 with PTC was obtained (C vs. T, P=0.027, OR=1.264, 95% CI=1.026-1.557; and C/C-C/T vs. T/T, P=0.034, OR=1.474, 95% CI=1.028-2.112). Conducting a subgroup analysis, we found a marginal difference in the allele frequency distribution of rs944289 (adjusted P=0.062) between the patients with PTC and multi-nodular goiter and the control subjects. We also observed an interaction (P=0.029; OR=2.578, 95% CI=1.104-6.023) between rs944289 and diabetes in patients with PTC. In conclusion, rs944289 was associated with an increased risk of PTC in the Han population of Northern China, but no clear association was observed in either of the tag single nucleotide polymorphisms of NKX2-1.

Key wordsNKX2-1    papillary thyroid carcinoma    the Han population of Northern China    association
收稿日期: 2013-05-16      出版日期: 2014-04-26
Corresponding Author(s): Yu Qiong,Email:yuqiong@jlu.edu.cn   
 引用本文:   
. Are the SNPs of NKX2-1 associated with papillary thyroid carcinoma in the Han population of Northern China?[J]. Frontiers of Medicine, 2014, 8(1): 113-117.
Lizhe Ai, Yaqin Yu, Xiaoli Liu, Chong Wang, Jieping Shi, Hui Sun, Qiong Yu. Are the SNPs of NKX2-1 associated with papillary thyroid carcinoma in the Han population of Northern China?. Front Med, 2014, 8(1): 113-117.
 链接本文:  
https://academic.hep.com.cn/fmd/CN/10.1007/s11684-014-0310-x
https://academic.hep.com.cn/fmd/CN/Y2014/V8/I1/113
SNPsPrimer sequence
rs12589672F5′-ACGTTGGATGACTCTGGCCCTCATAGACG-3′
R5′-ACGTTGGATGGGCTTCTGCTTCTCCCTTTC-3′
rs12894724F5′-ACGTTGGATGGAAATAATGGCGAGTGAGAG-3′
R5′-ACGTTGGATGTCCCGAATGGGGTCTAATTG-3′
rs2076751F5′-ACGTTGGATGAGAGAGGCAGACAGACTGAC-3′
R5′-ACGTTGGATGAACAAATGAGCGAGCGAGTC-3′
rs944289F5′-ACGTTGGATGCTTGCAATTTAATTTGGTTG-3′
R5′-ACGTTGGATGAGCCTGTGAATGGACATTAG-3′
Tab.1  
Reference allele frequencyVariant allele frequencyH-W equilibrium P valueχ2POR (95% CI)
CaseControlCaseControlCaseControl
rs12589672 (A/Ta)All62763781830.2140.2520.0030.9590.991 (0.716-1.373)
MNG (+)46763751830.7320.2520.8830.347*0.838 (0.580-1.212)*
MNG (-)16063730830.2080.2522.5100.226*1.439 (0.858-2.413)*
rs12894724 (C/Ta)All63364275780.2550.6720.0220.8830.975 (0.697-1.364)
MNG (+)47364245780.9720.6721.5510.213*0.783 (0.532-1.152)*
MNG (-)16064230780.2080.6723.5300.120*1.543 (0.917-2.598)*
rs2076751 (G/Ta)All5855861231340.2200.3900.3710.5430.919 (0.702-1.205)
MNG (+)426586921340.4360.3900.1460.702*0.944 (0.704-1.266)*
MNG (-)159586311340.2690.3900.5340.702*0.853 (0.523-1.391)*
rs944289 (C/Ta)All3624103463100.4620.8744.8600.0271.264 (1.026-1.557)
MNG (+)2634102553100.2400.8744.6260.062*1.282 (0.989-1.662)*
MNG(-)99410913100.6010.8741.4280.232*1.216 (0.882-1.675)*
Tab.2  
ModelGenotypeCaseControlχ2POR (95% CI)
rs12589672OverdominantA/A-T/T2872910.0070.9351.000
A/T67690.985 (0.678-1.431)
rs12894724OverdominantC/C-T/T2912920.1420.7061.000
C/T63680.930 (0.636-1.358)
rs2076751OverdominantG/G-T/T2592462.0120.1561.000
G/T951140.792 (0.573-1.094)
rs944289RecessiveC/C-C/T2662944.4930.0341.000
T/T88661.474 (1.028-2.112)
Tab.3  
Ionizing radiationFamily historyDiabetes
POR (95% CI)POR (95% CI)POR (95% CI)
rs125896720.7791.102 (0.558-2.178)0.0640.152 (0.021-1.118)0.1622.057 (0.749-5.625)
rs128947240.5621.225 (0.617-2.430)0.0780.166 (0.023-1.224)0.1062.307 (0.837-6.361)
rs20767510.4190.773 (0.414-1.444)0.8831.084 (0.511-2.302)0.6850.799 (0.270-2.366)
rs9442890.4630.845 (0.539-1.325)0.2500.705 (0.389-1.278)0.0292.578 (1.104-6.023)
Tab.4  
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