Issue

Vol. 64 No. 14: Issue 14

The undersigned hereby assign all rights, included but not limited to copyright, for this manuscript to CMB Association upon its submission for consideration to publication on Cellular and Molecular Biology. The rights assigned include, but are not limited to, the sole and exclusive rights to license, sell, subsequently assign, derive, distribute, display and reproduce this manuscript, in whole or in part, in any format, electronic or otherwise, including those in existence at the time this agreement was signed. The authors hereby warrant that they have not granted or assigned, and shall not grant or assign, the aforementioned rights to any other person, firm, organization, or other entity. All rights are automatically restored to authors if this manuscript is not accepted for publication.

Association between SATB2 gene polymorphism and cleft palate only risk in eastern Guangdong population and a meta-analysis

https://doi.org/10.14715/cmb/2018.64.14.17
Wancong Zhang
The Second Affiliated Hospital of Shantou University Medical College, Department of Burns and Plastic Surgery & Cleft Lip and Palate Treatment Center Shantou, Guangdong, CN
Linwang Tan
The Second Affiliated Hospital of Shantou University Medical College, Department of Burns and Plastic Surgery & Cleft Lip and Palate Treatment Center Shantou, Guangdong, CN
Yue Xing
The Second Affiliated Hospital of Shantou University Medical College, Department of Burns and Plastic Surgery & Cleft Lip and Palate Treatment Center Shantou, Guangdong, CN
Hanxing Zhao
The Second Affiliated Hospital of Shantou University Medical College, Department of Burns and Plastic Surgery & Cleft Lip and Palate Treatment Center Shantou, Guangdong, CN
Lungang Shi
The Second Affiliated Hospital of Shantou University Medical College, Department of Burns and Plastic Surgery & Cleft Lip and Palate Treatment Center Shantou, Guangdong, CN
Jianda Zhou
Central South University Third Xiangya Hospital, Department of Plastic and Reconstructive Surgery Changsha, Hunan, CN
Xing Lang
The Second Affiliated Hospital of Shantou University Medical College, Department of Burns and Plastic Surgery & Cleft Lip and Palate Treatment Center Shantou, Guangdong, CN
Jianxiong Cai
The Second Affiliated Hospital of Shantou University Medical College, Department of Burns and Plastic Surgery & Cleft Lip and Palate Treatment Center Shantou, Guangdong, CN
Shijie Tang
The Second Affiliated Hospital of Shantou University Medical College, Department of Burns and Plastic Surgery & Cleft Lip and Palate Treatment Center Shantou, Guangdong, CN

Corresponding Author(s) : Shijie Tang

SJtang3@stu.edu.cn

Cellular and Molecular Biology, Vol. 64 No. 14: Issue 14

Abstract

To characterize the associations between the cleft palate (CPO) and single nucleotide polymorphisms (SNPs) of special AT-rich sequence-binding protein 2 (SATB2). We recruited 241 CPO and performed a case-control study with 242 controls. Concurrently, 103 of the patients and their normal parents were recruited to perform a case-parent trio study. Sixteen selected SNPs were genotyped. Furthermore, A meta-analysis was used to enhance the robustness of our conclusions. The case-control study provided no support for the hypothesis that any of the 16 selected SNPs played a significant role in CPO. In the meta-analysis, we also did not find that the SATB2 was associated with nonsyndromic cleft palate risk, in Asians or in Caucasians. The 16 selected SNPs do not contribute to the development of CPO.

Keywords

Special AT-rich sequence binding protein 2 (SATB2) Nonsyndromic cleft palate (NSCP) Gene polymorphism Meta-analysis.
Zhang, W., Tan, L., Xing, Y., Zhao, H., Shi, L., Zhou, J., Lang, X., Cai, J., & Tang, S. (2018). Association between SATB2 gene polymorphism and cleft palate only risk in eastern Guangdong population and a meta-analysis. Cellular and Molecular Biology, 64(14), 101–107. https://doi.org/10.14715/cmb/2018.64.14.17
Download Citation
Endnote/Zotero/Mendeley (RIS)
BibTeX
References
  1. Ishorst N, Francheschelli P, Bohmer AC, Khan MFJ, Heilmann-Heimbach S, Fricker N, et al. Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample. Birth Defects Res. 2018.
  2. Mangold E, Bohmer AC, Ishorst N, Hoebel AK, Gultepe P, Schuenke H, et al. Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. Am J Hum Genet. 2016;98(4):755-62.
  3. Bohmer AC, Golz L, Kreusch T, Kramer FJ, Potzsch B, Nothen MM, et al. Investigation of dominant and recessive inheritance models in GWAS data of nonsyndromic cleft lip with or without cleft palate. Birth Defects Res. 2017.
  4. da Silva HPV, Oliveira GHM, Ururahy MAG, Bezerra JF, de Souza KSC, Bortolin RH, et al. Application of high-resolution array platform for genome-wide copy number variation analysis in patients with nonsyndromic cleft lip and palate. J Clin Lab Anal. 2018.
  5. Gowans LJJ, Oseni G, Mossey PA, Adeyemo WL, Eshete MA, Busch TD, et al. Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate. Cleft Palate Craniofac J. 2018:1055665618754948.
  6. Howe BJ, Cooper ME, Wehby GL, Resick JM, Nidey NL, Valencia-Ramirez LC, et al. Dental Decay Phenotype in Nonsyndromic Orofacial Clefting. J Dent Res. 2017;96(10):1106-14.
  7. Liu D, Schwender H, Wang M, Wang H, Wang P, Zhu H, et al. Gene-gene interaction between MSX1 and TP63 in Asian case-parent trios with nonsyndromic cleft lip with or without cleft palate. Birth Defects Res. 2018;110(4):317-24.
  8. Meng L, Bian Z, Torensma R, Von den Hoff JW. Biological mechanisms in palatogenesis and cleft palate. J Dent Res. 2009;88(1):22-33.
  9. Schoen C, Aschrafi A, Thonissen M, Poelmans G, Von den Hoff JW, Carels CEL. MicroRNAs in Palatogenesis and Cleft Palate. Front Physiol. 2017;8:165.
  10. Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet. 2011;12(3):167-78.
  11. Sivertsen A, Wilcox AJ, Skjaerven R, Vindenes HA, Abyholm F, Harville E, et al. Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives. BMJ. 2008;336(7641):432-4.
  12. Grosen D, Chevrier C, Skytthe A, Bille C, Molsted K, Sivertsen A, et al. A cohort study of recurrence patterns among more than 54,000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance. J Med Genet. 2010;47(3):162-8.
  13. Duan SJ, Huang N, Zhang BH, Shi JY, He S, Ma J, et al. New insights from GWAS for the cleft palate among han Chinese population. Med Oral Patol Oral Cir Bucal. 2017;22(2):e219-e27.
  14. Sliwinska-Jewsiewicka A, Kowalczyk AE, Krazinski BE, Godlewski J, Kwiatkowski P, Kiewisz J, et al. Decreased Expression of SATB2 Associates with Tumor Growth and Predicts Worse Outcome in Patients with Clear Cell Renal Cell Carcinoma. Anticancer Res. 2018;38(2):839-46.
  15. Berg KB, Schaeffer DF. SATB2 as an Immunohistochemical Marker for Colorectal Adenocarcinoma: A Concise Review of Benefits and Pitfalls. Arch Pathol Lab Med. 2017;141(10):1428-33.
  16. Mohamad Shah NS, Salahshourifar I, Sulong S, Wan Sulaiman WA, Halim AS. Discovery of candidate genes for nonsyndromic cleft lip palate through genome-wide linkage analysis of large extended families in the Malay population. BMC Genet. 2016;17:39.
  17. Mossey PA, Little J, Steegers-Theunissen R, Molloy A, Peterlin B, Shaw WC, et al. Genetic Interactions in Nonsyndromic Orofacial Clefts in Europe-EUROCRAN Study. Cleft Palate Craniofac J. 2017;54(6):623-30.
  18. Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Felix TM, Rahimov F, et al. Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet. 2005;1(6):e64.
  19. Rindone JP, Mellen CK. Meta-analysis of trials comparing cefazolin to anti-staphylococcal penicillins in the treatment of methicillin-sensitive Staphylococcus aureus bacteremia. Br J Clin Pharmacol. 2018.
  20. Wang R, Shen J, Yang R, Wang WG, Yuan Y, Guo ZH. Association between heme oxygenase-1 gene promoter polymorphisms and cancer susceptibility: A meta-analysis. Biomed Rep. 2018;8(3):241-8.
  21. You S, Saxena A, Wang X, Tan W, Han Q, Cao Y, et al. Efficacy and safety of intravenous recombinant tissue plasminogen activator in mild ischaemic stroke: a meta-analysis. Stroke Vasc Neurol. 2018;3(1):22-7.
  22. Carter TC, Molloy AM, Pangilinan F, Troendle JF, Kirke PN, Conley MR, et al. Testing reported associations of genetic risk factors for oral clefts in a large Irish study population. Birth Defects Res A Clin Mol Teratol. 2010;88(2):84-93.
  23. FitzPatrick DR, Carr IM, McLaren L, Leek JP, Wightman P, Williamson K, et al. Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum Mol Genet. 2003;12(19):2491-501.
  24. Van Buggenhout G, Van Ravenswaaij-Arts C, Mc Maas N, Thoelen R, Vogels A, Smeets D, et al. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. Eur J Med Genet. 2005;48(3):276-89.
  25. Britanova O, Depew MJ, Schwark M, Thomas BL, Miletich I, Sharpe P, et al. Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. Am J Hum Genet. 2006;79(4):668-78.
  26. Mc Cormack A, Taylor J, Gregersen N, George AM, Love DR. Delineation of 2q32q35 deletion phenotypes: two apparent "proximal" and "distal" syndromes. Case Rep Genet. 2013;2013:823451.
  27. Docker D, Schubach M, Menzel M, Munz M, Spaich C, Biskup S, et al. Further delineation of the SATB2 phenotype. Eur J Hum Genet. 2014;22(8):1034-9.
  28. Tegay DH, Chan KK, Leung L, Wang C, Burkett S, Stone G, et al. Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2. Clin Genet. 2009;75(3):259-64.
  29. Gurramkonda VB, Syed AH, Murthy J, Lakkakula BV. SATB2 gene variants in non-syndromic cleft lip with or without cleft palate in Indian population. J Oral Biol Craniofac Res. 2015;5(3):161-4.
  30. Beaty TH, Hetmanski JB, Fallin MD, Park JW, Sull JW, McIntosh I, et al. Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. Hum Genet. 2006;120(4):501-18.
Read More
Author biographies is not available.
Crossref
Scopus
Google Scholar
Europe PMC
Download this PDF file
PDF
Statistic
Read Counter : 738 Download : 405