Research Findings

Genetic Studies - Thyroid Cancer

Common single nucleotide polymorphisms in genes related to immune function and risk of papillary thyroid cancer (2013)
 In a pooled case-control study of 344 PTC cases and 452 controls, associations were examined between papillary thyroid cancer (PTC) risk and 3,985 tag single nucleotide polymorphisms (SNPs) in 240 candidate gene regions involved in immune function pathways. Two SNPs in the SERPINA5 gene were significantly associated with PTC risk, independent of a history of autoimmune thyroiditis, and the strong association with SERPINA5 largely explained the significantly increased risk of PTC with the combined group of SNPs in the complement and coagulation cascade pathway.
Common genetic variants in metabolism and detoxification pathways and the risk of papillary thyroid cancer (2012)
 Associations between papillary thyroid cancer (PTC) risk and 1647 tagging single nucleotide polymorphisms (SNPs) in 132 candidate genes/regions involved in metabolism and detoxification pathways were examined in a pooled case-control study of 344 PTC cases and 452 controls. Several observed associations between PTC risk with SNPs and genes/regions were observed but none remained significant after adjustment for multiple comparisons; however, significant interactions were observed between the UGT2B7 and NAT1 genes and alcohol intake and between the CYP26B1 gene and tobacco intake, suggesting that alcohol or tobacco intake may modify gene-related risks of PTC.
Common obesity-related genetic variants and papillary thyroid cancer risk (2012)
 Associations between papillary thyroid cancer (PTC) risk and 575 tag single nucleotide polymorphisms (SNPs) in 23 obesity-related gene regions were examined in a pooled case-control study of 341 PTC cases and 444 controls. Nine of 10 SNPs associated with PTC were located in the fat mass and obesity associated gene region and the other was located in the insulin receptor region. None of these associations remained statistically significant after adjustment for multiple comparisons, leading the authors to conclude that obesity-related gene polymorphisms do not play an important role in risk of PTC.
Common genetic variants in the 8q24 region and risk of papillary thyroid cancer (2012)
 A case-control study of 344 papillary thyroid cancer cases and 452 age- and sex-matched controls evaluated 157 tag single nucleotide polymorphisms (SNPs) in the 8q24 gene-poor region. No associations were found for three SNPs that have been consistently linked with thyroid cancer. Thirteen other SNPs were associated with thyroid cancer risk but none of the associations remained statistically significant after adjustment for possible false discovery.
Common genetic variants in sex hormone pathway genes and papillary thyroid cancer risk (2012)
 In a pooled case-control study of 344 papillary thyroid cancer cases and 452 controls, we found no evidence that thyroid cancer risk was associated with 1134 tag single nucleotide polymorphisms (SNPs) in 58 candidate genes involved in hormone metabolism pathways.
Common genetic variants related to genomic integrity and risk of papillary thyroid cancer (2011)
 In a pooled case-control study of 344 PTC cases and 452 matched controls, we examined the role of 5,077 tag single nucleotide polymorphisms (SNPs) from 340 candidate gene regions hypothesized to be involved in DNA repair, epigenetics, tumor suppression, apoptosis, telomere function, cell cycle control and signaling pathways. Nine SNPs had P-values <0.0005, three of which were in HDAC4 and were inversely related to PTC risk. After multiple comparisons adjustment, no SNPs remained associated with PTC risk. Seven gene regions were associated with PTC risk at P <0.01, including HUS1, ALKBH3, HDAC4, BAK1, FAF1_CDKN2C, DACT3, and FZD6. Our results suggest a possible role of genes involved in maintenance of genomic integrity in relation to risk of PTC.
Papillary thyroid cancer and polymorphic variants in TSHR- and RET-related genes: A nested case-control study within a cohort of US radiologic technologists (2007)
 In a study of 167 papillary thyroid cancer cases and 491 control subjects, we observed no statistically significant associations with 10 selected polymorphic variants. A suggested association was seen with one variant in the RET signaling pathway.
DNA damage among thyroid cancer and multiple cancer cases, controls, and long-lived individuals (2005)
 We tested for DNA damage in lymphoblastoid cells from persons who had multiple cancer diagnoses (breast cancer and another cancer site), thyroid cancer, early-onset breast cancer and two control groups unaffected by cancer: one group was about the same age as those who had cancer and the other group was long-lived with no cancer in their relatives. The Comet Assay was used to detect the amount of DNA damage in the cells. Damage to the DNA did not appear to be consistently higher among those women with early-onset breast cancer, however those with thyroid and multiple cancers appeared to show more DNA damage when compared to the control group matched by age. For the long-lived control group, the amount of DNA damage appeared to be even lower than the age-matched controls, but the difference was not statistically significant because the numbers in the long-lived group were small. Nevertheless, the pattern detected seemed to indicate that DNA damage was highest in the cancer cases, less in controls, and suggestively lower in those who were long-lived with no family cancer history.