Polymorphism ofIGF1RIs Associated with Papillary Thyroid Carcinoma in a Korean Population

Abstract

This study investigated whether insulin-like growth factor 1 receptor (IGF1R) single-nucleotide polymorphisms (SNPs) are associated with the development of papillary thyroid cancer (PTC) and their clinicopathologic features in the Korean population. One hundred and five PTC patients and 312 control subjects were enrolled. Two exonic SNPs (rs3743262, Thr766Thr; rs2229765, Glu1043Glu) in IGF1R were genotyped using direct sequencing. SNPStats, SPSS 18.0, and Haploview version 4.2 programs were used to evaluate genetic data. Multiple logistic regression models were used to determine odds ratios (ORs), 95% confidence intervals (CIs), and P values. A SNP (rs2229765) was associated with the development of PTC (OR = 0.56, 95% CI = 0.35-0.89, P = 0.016 in a codominant model 1; OR = 0.29, 95% CI = 0.11-0.78, P = 0.012 in a codominant model 2; OR = 0.51, 95% CI = 0.32-0.79, P = 0.0028 in a dominant model; OR = 0.38, 95% CI = 0.15-1.01, P = 0.031 in a recessive model; OR = 0.55, 95% CI = 0.38-0.80, P = 0.0001 in a log-additive model; OR = 1.78, 95% CI = 1.25-2.54, P = 0.002 in allele distribution). Our data suggest that the IGF1R may be a risk factor of susceptibility in PTC.

A Possible Link of Genetic Variations in ER/IGF1R Pathway and Risk of Melanoma

“…On the contrary, the a alleles showed no association with non-small cell lung cancer survival [75], IGF1R expression, or breast cancer survival [76]. Interestingly, the a allele was discovered to be protective in papillary thyroid carcinoma [45]. rs2229765 SNP G > a is known to be a "silent" mutation, which means the nucleotide acid change from guanine to adenosine at this locus does not change the encoded protein and is thus not likely to be a functional alteration [76].…”

“…SNPs rs1520220, rs2946834, and rs5742694 in IGF1 had continuously been linked to cancer prognosis [43], as well as coronary artery disease [44]. SNPs rs2229765 and rs8038415 in IGF1R had been linked to several cancer types, including colorectal cancer, breast cancer, papillary thyroid carcinoma, and non-small cell lung cancer [45][46][47][48].…”

Association between single nucleotide variants of vascular endothelial growth factor A and the risk of thyroid carcinoma and nodular goiter in a Han Chinese population

“…PTC has relationships with several genes including FOXE1 [21], BRAF V600E [22], and Fas [23]. SNPs in VEGFA are involved in several types of cancers, such as the bladder [24], esophageal [25], thyroid [11] and gastric [26] cancers. VEGF influences cell angiogenesis, proliferation, and migration, and plays an important role in thyroid cancer cell growth and distant metastasis [27].…”

“…The risk factors for NG include goiter size, thyrotrophin, multifocal, heterogeneous, nodular growth pattern, and genetic predisposition [10]. A number of studies have investigated the association between PTC or NG and single nucleotide polymorphisms (SNPs) within or nearby candidate genes [9, 11]. In recent years, many researchers have investigated the genetic susceptibility to PTC, and several susceptibility genes for PTC have been identified [12].…”

Association between exonic polymorphism (rs629849, Gly1619Arg) of <i>IGF2R</i> gene and obesity in Korean population

“…Genomic DNAs were extracted by QIAamp ® DNA mini kit (QIAGEN, Valencia, CA, USA). We selected exonic rs3743262 (Thr766Thr) and rs2229765 (Glu1043Glu) SNPs of IGF1R gene ( Cho et al, 2012 ) and rs629849 (Gly1619Arg) and rs1805075 (Asn2020Ser) SNPs of IGF2R gene. Genotype of each SNP was performed by direct sequencing (MACROGEN, Seoul, Korea).…”