ABCMdb

PMID: 22740931

Oh IH, Oh C, Yoon TY, Choi JM, Kim SK, Park HJ, Eun YG, Chung DH, Kwon KH, Choe BK
Association of CFTR gene polymorphisms with papillary thyroid cancer.
Oncol Lett. 2012 Feb;3(2):455-461. Epub 2011 Nov 15., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Val470Met One promoter SNP (rs4148682) and one coding SNP (rs213950, Val470Met) in the CFTR gene were analyzed, using direct sequencing. Login to comment 50 ABCC7 p.Val470Met Two SNPs (rs4148682, promoter; rs213950, missense, Val470Met) were selected. Login to comment 95 ABCC7 p.Val470Met SNP Type Control PTC Model OR (95% CI) P-value ------------------ ------------------- n (%) n (%) rs4148682 Genotype T/T 93 (28.8) 27 (25.7) Co-dominant 1 1.26 (0.73-2.18) 0.70 -175 T/G 155 (48) 50 (47.6) Co-dominant 2 1.36 (0.73-2.54) 0.42 G/G 75 (23.2) 28 (26.7) Dominant 1.30 (0.78-2.16) 0.32 Recessive 1.18 (0.70-1.97) 0.54 Allele T 341 (52.8) 104 (49.5) 1 G 305 (47.2) 106 (50.5) 1.14 (0.84-1.56) 0.41 rs213950 Genotype G/G 110 (34.1) 31 (29.5) Co-dominant 1 1.23 (0.73-2.07) 0.64 Val470Met A/G 154 (47.7) 49 (46.7) Co-dominant 2 1.54 (0.82-2.89) 0.19 A/A 59 (18.3) 25 (23.8) Dominant 1.32 (0.81-2.14) 0.27 Recessive 1.36 (0.79-2.35) 0.27 Allele G 374 (83.9) 111 (52.9) 1 A 272 (16.1) 99 (47.1) 1.23 (0.90-1.68) 0.20 PTC, papillary thyroid cancer; SNP, single nucleotide polymorphism; OR, odds ratio; CI, confidence interval. P-values were calculated from the logistic regression analyses adjusting for gender and age. Login to comment 105 ABCC7 p.Val470Met SNP Type Unifocality Multifocality Model OR (95% CI) P-value --------------------- ------------------------ n (%) n (%) rs4148682 Genotype T/T 11 (16.9) 16 (44.4) Co-dominant 1 0.21 (0.08-0.60) 0.003 -175 T/G 36 (55.4) 11 (30.6) Co-dominant 2 0.34 (0.11-1.04) 0.06 G/G 18 (27.7) 9 (25.0) Dominant 0.26 (0.10-0.65) 0.004 Recessive 0.84 (0.33-2.15) 0.72 Allele G 72 (55.4) 29 (40.3) 1 T 58 (44.6) 43 (59.7) 1.92 (1.07-3.43) 0.028 rs213950 Genotype G/G 13 (20.0) 18 (50.0) Co-dominant 1 0.20 (0.07-0.56) 0.002 Val470Met A/G 35 (53.9) 10 (27.8) Co-dominant 2 0.34 (0.11-1.03) 0.06 A/A 17 (26.1) 8 (22.2) Dominant 0.25 (0.10-0.61) 0.002 Recessive 0.80 (0.30-2.10) 0.64 Allele A 69 (53.1) 26 (36.1) 1 G 61 (46.9) 46 (63.9) 2.00 (1.01-3.62) 0.022 PTC, papillary thyroid cancer; SNP, single nucleotide polymorphism; OR, odds ratio; CI, confidence interval. P-values were calculated from the logistic regression analyses adjusting for gender and age. Bold numbers represent a statistically significant association. Table IV. Login to comment 107 ABCC7 p.Val470Met ABCC7 p.Val470Met SNP Type <1 cm (tumor size) ≥1 cm (tumor size) Model OR (95% CI) P-value ---------------------------------- ---------------------------------- n (%) n (%) rs4148682 Genotype T/T 15 (27.8) 12 (24.5) Co-dominant 1 1.05 (0.40-2.74) 0.84 -175 T/G 26 (48.1) 23 (46.9) Co-dominant 2 1.38 (0.46-4.10) 0.59 G/G 13 (24.1) 14 (28.6) Dominant 1.16 (0.47-2.83) 0.75 Recessive 1.34 (0.54-3.30) 0.52 Allele T 56 (51.9) 47 (48.0) 1 G 52 (48.1) 51 (52.0) 1.17 (0.68-2.02) 0.58 rs213950 Genotype G/G 18 (33.3) 13 (26.5) Co-dominant 1 1.34 (0.52-3.41) 0.54 Val470Met A/G 24 (44.4) 23 (46.9) Co-dominant 2 1.49 (0.51-4.40) 0.50 A/A 12 (22.2) 13 (26.5) Dominant 1.39 (0.59-3.31) 0.45 Recessive 1.26 (0.50-3.17) 0.63 Allele G 60 (55.6) 49 (50.0) 1 A 48 (44.4) 49 (50.0) 1.25 (0.72-2.16) 0.43 PTC, papillary thyroid cancer; SNP, single nucleotide polymorphism; OR, odds ratio; CI, The prognosis of thyroid cancer is generally good (2); however, it is crucial to identify patients at higher risk of recurrence in order to provide appropriate monitoring and treatment. Login to comment 112 ABCC7 p.Val470Met Thus, the promoter SNP (rs4148682, -175T/G) and the missense SNP (rs213950, Val470Met) were associated with multifocality, bilateral location in the thyroid lobes and cervical lymph node metastasis of the PTC. Login to comment 115 ABCC7 p.Val470Met SNP Type One lobe Both lobes Model OR (95% CI) P-value ----------------- ------------------- n (%) n (%) rs4148682 Genotype T/T 13 (20.0) 14 (38.9) Co-dominant 1 0.44 (0.16-1.20) 0.08 -175 T/G 33 (50.8) 15 (41.7) Co-dominant 2 0.32 (0.10-1.04) 0.07 G/G 19 (29.2) 7 (19.4) Dominant 0.39 (0.16-1.00) 0.049 Recessive 0.52 (0.19-1.44) 0.20 Allele G 71 (54.6) 29 (40.3) 1 T 59 (45.4) 43 (59.7) 1.78 (1.00-3.20) 0.05 rs213950 Genotype G/G 15 (23.1) 16 (44.4) Co-dominant 1 0.37 (0.14-1.00) 0.048 Val470Met A/G 32 (49.2) 13 (36.1) Co-dominant 2 0.35 (0.11-1.11) 0.08 A/A 18 (27.7) 7 (19.4) Dominant 0.36 (0.15-0.89) 0.026 Recessive 0.60 (0.21-1.67) 0.32 Allele A 68 (52.3) 27 (37.5) 1 G 62 (47.7) 45 (62.5) 1.83 (1.02-3.29) 0.044 PTC, papillary thyroid cancer; SNP, single nucleotide polymorphism; OR, odds ratio; CI, confidence interval. P-values were calculated from the logistic regression analyses adjusting for gender and age. Bold numbers represent a statistically significant association. Table VII. Genotype and allele frequencies of SNPs of the CFTR gene in PTC patients by metastasis. Login to comment 116 ABCC7 p.Val470Met SNP Type Cervical lymph Cervical lymph Model OR P-value node node (95% CI) metastasis (-) metastasis (+) ----------------------------- ----------------------------- n (%) n (%) rs4148682 Genotype T/T 23 (33.3) 3 (10.3) Co-dominant 1 4.27 (1.09-16.65) 0.05 -175 T/G 32 (46.4) 16 (55.2) Co-dominant 2 5.25 (1.21-22.84) 0.022 G/G 14 (20.3) 10 (34.5) Dominant 4.59 (1.24-17.00) 0.01 Recessive 1.88 (0.70-5.07) 0.22 Allele T 78 (56.5) 22 (37.9) 1 G 60 (43.5) 36 (62.1) 2.13 (1.14-3.99) 0.019 rs213950 Genotype G/G 25 (36.2) 5 (17.2) Co-dominant 1 2.36 (0.74-7.59) 0.18 Val470Met A/G 32 (46.4) 14 (48.3) Co-dominant 2 4.15 (1.13-15.21) 0.028 A/A 12 (17.4) 10 (34.5) Dominant 2.88 (0.96-8.62) 0.044 Recessive 2.41 (0.87-6.70) 0.09 Allele G 82 (59.4) 24 (41.4) 1 A 56 (40.6) 34 (58.6) 2.07 (1.11-3.87) 0.022 PTC, papillary thyroid cancer; SNP, single nucleotide polymorphism; OR, odds ratio; CI, confidence interval. P-values were calculated from the logistic regression analyses adjusting for gender and age. Bold numbers represent a statistically significant association. Login to comment 138 ABCC7 p.Val470Met SNP Type Extra-thyroidal Extra-thyroidal Model OR (95% CI) P-value invasion (-) invasion (+) --------------------------- --------------------------- n (%) n (%) rs4148682 Genotype T/T 12 (24.5) 15 (28.3) Co-dominant 1 0.91 (0.35-2.38) 0.77 -175 T/G 23 (46.9) 25 (47.2) Co-dominant 2 0.73 (0.25-2.15) 0.59 G/G 14 (28.6) 13 (24.5) Dominant 0.84 (0.34-2.05) 0.7 Recessive 0.77 (0.32-1.90) 0.58 Allele G 51 (52.0) 51 (48.1) 1 T 47 (48.0) 55 (51.9) 1.17 (0.68-2.03) 0.58 rs213950 Genotype G/G 14 (28.6) 17 (32.1) Co-dominant 1 0.83 (0.33-2.10) 0.68 Val470Met A/G 23 (46.9) 23 (43.4) Co-dominant 2 0.90 (0.31-2.62) 0.83 A/A 12 (24.5) 13 (24.5) Dominant 0.85 (0.36-2.01) 0.72 Recessive 1.01 (0.40-2.52) 0.99 Allele A 47 (48.0) 49 (46.2) 1 G 51 (52.0) 57 (53.8) 1.07 (0.62-1.86) 0.80 PTC, papillary thyroid cancer; SNP, single nucleotide polymorphism; OR: odds ratio; CI: However, the present study has certain limitations. Login to comment