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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2019

Open Access 01-12-2019 | Pituitary Adenoma | Research article

SIRT1 (rs3740051) role in pituitary adenoma development

Authors: Rasa Liutkeviciene, Alvita Vilkeviciute, Greta Morkunaite, Brigita Glebauskiene, Loresa Kriauciuniene

Published in: BMC Medical Genetics | Issue 1/2019

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Abstract

Background

Our purpose was to determine if SIRT1 (rs4746720, rs3740051) genotypes have an influence on the development of pituitary adenoma (PA).

Methods

The study group included 142 patients with pituitary adenoma (PA) and the control group consisted of 826 healthy people. The genotyping of SIRT1 (rs4746720, rs3740051) was carried out using the real-time polymerase chain reaction method.

Results

Statistically significant results were obtained in the analysis of SIRT1 rs3740051. Significant differences in genotype (G/G, G/A, A/A) distribution were obtained comparing patients with PA without recurrence and PA with recurrence (0, 17.9, 82.1% vs. 6.7, 6.7, 86.7%, respectively, p = 0.022). Also, statistically significant differences were observed when comparing the genotype (G/G, G/A, A/A) distribution in the non-invasive PA group and the invasive PA group (3.4, 25.9, 70.7% vs. 0, 8.3, 91.7%, respectively, p = 0.003), and allele G was less frequently observed in invasive PA, than in non-invasive PA (4.2% vs. 16.4%, p < 0,001). Further analysis revealed that G/A (OR = 0.261; 95% CI:0.099–0.689; p = 0.007) and each allele A (OR = 0.229; 95% CI:0.091–0.575; p = 0.002) were associated with lower odds of occurring an invasive PA.

Conclusions

Our study revealed that SIRT1 rs3740051 is associated with PA recurrence and invasiveness. The haplotype containing alleles C-A in rs12778366-rs3740051 was found to be associated with increased odds of PA development as well.
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Literature
1.
Nistor R. Pituitary tumours. Neuro Rew. 1996;57:264–72.
2.
Kovacs K, Scheithauer BW, Horvath E, Lloyd RV. The world health organization classification of adenohypophysial neoplasms: a proposed five-tier scheme. Cancer. 1996;78:502–10.CrossRefPubMed
3.
Ezzat S, Asa SL, Couldwell WT, Barr CE, Dodge WE, Vance ML, et al. The prevalence of pituitary adenomas: a systematic review. Cancer. 2004;101:613–9.CrossRefPubMed
4.
5.
6.
Jagannathan J, Dumont AS, Prevedello DM, Lopes B, Oskouian RJ, Jane JA Jr, et al. Genetics of pituitary adenomas: current theories and future implications. Neurosurg Focus. 2005;19:E4.CrossRefPubMed
7.
Daly AF, Rixhon M, Adam C, Dempegioti A, Tichomirowa MA, Beckers A. High prevalence of pituitary adenomas: a cross-sectional study in the province of Liege, Belgium. J Clin Endocrinol Metab. 2006;91(12):4769–75.CrossRefPubMed
8.
9.
Gittleman H, Ostrom QT, Farah PD, et al. Descriptive epidemiology of pituitary tumors in the United States, 2004–2009. J Neurosurg. 2014;121(3):527–35.CrossRefPubMed
10.
Hemminki K, Forst A, Ji J. Incidence and familial risk in pituitary adenoma and associated tumors. Endocr Relat Cancer. 2007;14:103–9.CrossRefPubMed
11.
Dworakowska D, Grossman AB. The pathophysiology of pituitary adenomas. Best Pract Res Clin Endocrinol Metab. 2009;23:525–41.CrossRefPubMed
12.
Wilson CB. Neurosurgical management of large and invasive pituitary tumors. In: Tindall GT, Collins WF, editors. Clinical management of pituitary disorders. New York: Raven; 1979. p. 335–42.
13.
Maeda S, Koya D, Araki S, et al. Association between single nucleotide polymorphisms within genes encoding sirtuin families and diabetic nephropathy in Japanese subjects with type 2 diabetes. Clin Exp Nephrol. 2011;15:381–90.CrossRefPubMedPubMedCentral
14.
Brochier C, Dennis G, Rivieccio MA, et al. Specific acetylation of p53 by HDAC inhibition prevents DNA damage-induced apoptosis in neurons. J Neurosci. 2013;33(20):8621–32.CrossRefPubMedPubMedCentral
15.
Kaeberlein M, McVey M, Guarente L. The SIR2/3/4 complex and SIR2 alone promote longevity in Saccharomyces cerevisiae by two different mechanisms. Genes Dev. 1999;13(19):2570–80.CrossRefPubMedPubMedCentral
16.
Wojcik M, Mac-Marcjanek K, Wozniak LA. Physiological and pathophysiological functions of SIRT1. Mini-Rev Med Chem. 2009;9(3):386–94.CrossRefPubMed
17.
Han J, Hubbard BP, Lee J, et al. Analysis of 41 cancer cell lines reveals excessive allelic loss and novel mutations in the SIRT1 gene. Cell Cycle. 2013;12(2):263–70.CrossRefPubMedPubMedCentral
18.
Chen HC, Jeng YM, Yuan RH, Hsu HC, Chen YL. SIRT1 promotes tumorigenesis and resistance to chemotherapy in hepatocellular carcinoma and its expression predicts poor prognosis. Ann Surg Oncol. 2012;19:2011–9.CrossRefPubMed
19.
Jin X, Wei Y, Xu F, Zhao M, Dai K, Shen R, Yang S, Zhang N. SIRT1 promotes formation of breast cancer through modulating Akt activity. J Cancer. 2018 Apr 30;9(11):2012–23.CrossRefPubMedPubMedCentral
20.
Liu G, Yuan X, Zeng Z, Tunici P, Ng H, Abdulkadir IR, Lu L, Irvin D, Black KL, Yu JS. Analysis of gene expression and chemoresistance of CD133+ cancer stem cells in glioblastoma. Mol Cancer. 2006;5:67.CrossRefPubMedPubMedCentral
21.
Jang KY, Hwang SH, Kwon KS, Kim KR, Choi HN, Lee NR, Kwak JY, Park BH, Park HS, Chung MJ, et al. SIRT1 expression is associated with poor prognosis of diffuse large B-cell lymphoma. Am J Surg Pathol. 2008;32:1523–31.CrossRefPubMed
22.
Huffman DM, Grizzle WE, Bamman MM, Kim JS, Eltoum IA, Elgavish A, Nagy TR. SIRT1 is significantly elevated in mouse and human prostate cancer. Cancer Res. 2007;67:6612–8.CrossRefPubMed
23.
Jang KY, Kim KS, Hwang SH, Kwon KS, Kim KR, Park HS, Park BH, Chung MJ, Kang MJ, Lee DG, Moon WS. Expression and prognostic significance of SIRT1 in ovarian epithelial tumours. Pathology. 2009;41:366–71.CrossRefPubMed
24.
Cha EJ, Noh SJ, Kwon KS, Kim CY, Park BH, Park HS, Lee H, Chung MJ, Kang MJ, Lee DG, et al. Expression of DBC1 and SIRT1 is associated with poor prognosis of gastric carcinoma. Clin Cancer Res. 2009;15:4453–45.CrossRefPubMed
25.
26.
27.
Glebauskiene B, Vilkeviciute A, Liutkeviciene R, Jakstiene S, Kriauciuniene L, Zemaitiene R, Zaliuniene D. Association of FGFR2 rs2981582, SIRT1 rs12778366, STAT3 rs744166 gene polymorphisms with pituitary adenoma. Oncol Lett. 2017;13(5):3087–99.CrossRefPubMedPubMedCentral
28.
Sidaraite A, Liutkeviciene R, Glebauskiene B, Vilkeviciute A, Kriauciuniene L. Associations of cholesteryl ester transfer protein (CETP) gene variants with pituitary adenoma. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2019. https://​doi.​org/​10.​5507/​bp.​2019.​016. Epub ahead of print.
29.
Gedvilaite G, Vilkeviciute A, Kriauciuniene L, Asmoniene V, Liutkeviciene R. Does CETP rs5882, rs708272, SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, VEGFA rs833068, IL6 rs1800795 polymorphisms play a role in optic neuritis development? Ophthalmic Genet. 2019;40(3):219–26.CrossRefPubMed
30.
Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analysis. Am J Hum Genet. 2007;81(3):559–75.CrossRefPubMedPubMedCentral
31.
Ford J, Jiang M, Milner J. Cancer-specific functions of SIRT1 enable human epithelial cancer cell growth and survival. Cancer Res. 2005;65:10457–63.CrossRefPubMed
32.
Saunders LR, Verdin E. Sirtuins: critical regulators at the crossroads between cancer and aging. Oncogene. 2007;26:5489–504.
33.
Ikenoue T, Inoki K, Zhao B, Guan KL. PTEN acetylation modulates its interaction with PDZ domain. Cancer Res. 2008;68:6908–691.CrossRefPubMed
34.
35.
Mouchiroud L, Houtkooper RH, Moullan N, Katsyuba E, Ryu D, Canto C, Mottis A, Jo YS, Viswanathan M, Schoonjans K, et al. The NAD(+)/Sirtuin pathway modulates longevity through activation of mitochondrial UPR and FOXO signaling. Cell. 2013;154:430–41.CrossRefPubMedPubMedCentral
36.
Hisahara S, Chiba S, Matsumoto H, Tanno M, Yagi H, Shimohama S, Sato M, Horio Y. Histone deacetylase SIRT1 modulates neuronal differentiation by its nuclear translocation. Proc Natl Acad Sci U S A. 2008;105:15599–604.CrossRefPubMedPubMedCentral
37.
Sugino T, Maruyama M, Tanno M, Kuno A, Houkin K, Horio Y. Protein deacetylase SIRT1 in the cytoplasm promotes nerve growth factor-induced neurite outgrowth in PC12 cells. FEBS Lett. 2010;584:2821–6.CrossRefPubMed
38.
Tanno M, Sakamoto J, Miura T, Shimamoto K, Horio Y. Nucleocytoplasmic shuttling of the NAD+-dependent histone deacetylase SIRT1. J Biol Chem. 2007;282:6823–32.CrossRefPubMed
39.
Byles V, Chmilewski LK, Wang J, Zhu L, Forman LW, Faller DV, Dai Y. Aberrant cytoplasm localization and protein stability of SIRT1 is regulated by PI3K/IGF-1R signaling in human cancer cells. Int J Biol Sci. 2010;6:599–612.CrossRefPubMedPubMedCentral
40.
Ramsey KM, Mills KF, Satoh A, Imai S. Age-associated loss of Sirt1-mediated enhancement of glucose-stimulated insulin secretion in beta cell-specific Sirt1-overexpressing (BESTO) mice. Aging Cell. 2008;7:78–88.CrossRefPubMed
41.
Jin Q, Yan T, Ge X, Sun C, Shi X, Zhai Q. Cytoplasm-localized SIRT1 enhances apoptosis. J Cell Physiol. 2007;213:88–97.CrossRefPubMed
42.
43.
Bradbury CA, Khanim FL, Hayden R, et al. Histone deacetylases in acute myeloid leukaemia show a distinctive pattern of expression that changes selectively in response to deacetylase inhibitors. Leukemia. 2005;19:1751–9.CrossRefPubMed
44.
Stunkel W, Peh BK, Tan YC, et al. Function of the SIRT1 protein deacetylase in cancer. Biotechnol J. 2007;2:1360–8.CrossRefPubMed
45.
Hida Y, Kubo Y, Murao K, et al. Strong expression of a longevity-related protein, SIRT1, in Bowen’s disease. Arch Dermatol Res. 2007;299:103–6.
46.
Wang RH, Sengupta K, Li C, et al. Impaired DNA damage response, genome instability, and tumorigenesis in SIRT1 mutant mice. Cancer Cell. 2008;14:312–23.CrossRefPubMedPubMedCentral
47.
48.
Mindermann T, Wilson CB. Age-related and gender-related occurrence of pituitary adenomas. Clin Endocrinol. 1994;41:359–64.CrossRef
49.
Schaller B. Gender-related differences in non-functioning pituitary adenomas. Neuro Endocrinol Lett. 2003;24(6):425–30.PubMed
Metadata
Title
SIRT1 (rs3740051) role in pituitary adenoma development
Authors
Rasa Liutkeviciene
Alvita Vilkeviciute
Greta Morkunaite
Brigita Glebauskiene
Loresa Kriauciuniene
Publication date
01-12-2019
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2019
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/s12881-019-0892-x

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