Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations

European Journal of Human Genetics

Volumn 18, Issue 6, 2010, Pages 726-732

  Ingersoll, Roxann G ^a   Hetmanski, Jacqueline ^a,b   Park, Ji Wan ^a,c   Fallin, M Daniele ^a   McIntosh, Iain ^b,d   Wu Chou, Yah Huei ^e   Chen, Philip K ^e   Yeow, Vincent ^e   Chong, Samuel S ^f   Cheah, Felicia ^f   Sull, Jae Woong ^g   Jee, Sun Ha ^g   Wang, Hong ^h   Wu, Tao ^a   Murray, Tanda ^a   Huang, Shangzhi ⁱ   Ye, Xiaoqian ^j   Jabs, Ethylin Wang ^b,k   Redett, Richard ^b   Raymond, Gerald ^l   Scott, Alan F ^b   Beaty, Terri H ^a   more..

^a JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Sungkyunkwan University   (South Korea)

^d American University of the Caribbean   (Netherlands Antilles)

^e CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^f KK WOMEN'S AND CHILDREN'S HOSPITAL   (Singapore)

^g Yonsei University   (South Korea)

^h PEKING UNIVERSITY HEALTH SCIENCE CENTER   (China)

ⁱ INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^j WUHAN UNIVERSITY   (China)

^k MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^l KENNEDY KRIEGER INSTITUTE   (United States)

more..

Author keywords

Chromosome 4p16; Cleft lip with or without cleft palate; Cleft palate; MSX1; Oral clefts

Indexed keywords

TRANSCRIPTION FACTOR MSX1;

ARTICLE; CHROMOSOME 4P; CLEFT LIP; CLEFT LIP PALATE; CLEFT PALATE; CONTROLLED STUDY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISTANCE; GENETIC LINKAGE; GENETIC RISK; GEOGRAPHIC DISTRIBUTION; HUMAN; MALE; MARKER GENE; POPULATION RESEARCH; PRIORITY JOURNAL; SINGAPORE; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH KOREA; TAIWAN; UNITED STATES;

CHROMOSOMES, HUMAN, PAIR 4; CLEFT LIP; CLEFT PALATE; FEMALE; GENES; GENETIC PREDISPOSITION TO DISEASE; GENETICS, POPULATION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; KOREA; LINKAGE DISEQUILIBRIUM; MALE; MARYLAND; MSX1 TRANSCRIPTION FACTOR; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; PROTEINS; SINGAPORE; TAIWAN;

EID: 77952673392     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.228     Document Type: Article

References (44)

1. Marazita ML, Lidral AC, Murray JC: Genome scan fine-mapping candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage association results. Hum Hered 2009; 68: 151-170.
2. Mossey PA, Little J: Epidemiology of oral clefts: an international perspective; in Wysnynski DF (ed): New York: Cleft Lip and Palate 2002, pp 127-158.
3. Saal HM: Classification and description of nonsyndromic clefts; in Wysnynski DF (ed): New York: Cleft Lip and Palate 2002, pp 47-52.
4. Jugessur A, Murray JC: Orofacial clefting: recent insights into a complex trait. Curr Opin Genet Dev 2005; 15: 270-278. (Pubitemid 40726050)
5. Hayes C: Environmental risk factors and oral clefts; in Wysnynski DF (ed): New York: Cleft Lip and Palate 2002, pp 159-168.
6. Marazita ML, Neiswanger K: Association studies; in Wysnynski DF (ed): New York: Cleft Lip and Palate 2002, pp 240-253.
7. Vieira AR: Unraveling human cleft lip and palate research. J Dent Res 2008; 87: 119-125.
8. Shi M, Mostowska A, Jugessur A et al: Identification of microdeletions in candidate genes for cleft lip and/or palate. Birth Defects Res A Clin Mol Teratol 2009; 85: 42-51.
9. Entrez Gene, http://www|.ncbi.nlm.nih.gov/entrez/.
10. Blin-Wakkach C, Lezot F, Ghoul-Mazgar S et al: Endogenous Msx1 antisense transcript: in vivo and in vitro evidences, structure, and potential involvement in skeleton development in mammals. Proc Natl Acad Sci USA 2001; 98: 7334-7336. (Pubitemid 32567949)
11. Sherry ST, Ward MH, Kholodov M et al: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001; 29: 308-311. (Pubitemid 32054478)
12. van den Boogaard MJ, Dorland M, Beemer FA et al: MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet 2000; 24: 342-343. (Pubitemid 30187429)
13. Marazita ML, Field LL, Cooper ME et al: Nonsyndromic cleft lip with or without cleft palate in China: assessment of candidate regions. Cleft Palate Craniofac J 2002; 39: 149-156. (Pubitemid 34229533)
14. Park J, Park BY, Kim HS et al: MSX1 polymorphism associated with risk of oral cleft in Korea: evidence from case-parent trio and case-control studies. Yonsei Med J 2007; 48: 101-108. (Pubitemid 46403640)
15. Tongkobpetch S, Siriwan P, Shotelersuk V et al: MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. J Hum Genet 2006; 51: 671-676. (Pubitemid 44354678)
16. Otero L, Gutiérrez S, Cháves M, Vargas C, Bérmudez L: Association of MSX1 with nonsyndromic cleft lip and palate in a Colombian population. Cleft Palate Craniofac J 2007; 44: 653-656. (Pubitemid 350174962)
17. Fallin MD, Hetmanski JB, Park J et al: Family-based analysis of MSX1 haplotypes for association with oral clefts. Genet Epidemiol 2003; 25: 168-175. (Pubitemid 37064872)
18. Jezewski PA, Vieira AR, Nishimura C et al: Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet 2003; 40: 399-407. (Pubitemid 36760656)
19. Shih JY, Yang SC, Hong TM et al: Collapsin response mediator protein|-1 and the invasion and metastasis of cancer cells. J Natl Cancer Inst 2001; 93: 1392-1400. (Pubitemid 32936816)
20. Bellus GA, Hefferon TW, Luna RIO et al: Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 1995; 56: 368-373.
21. Oliphant A, Barker DL, Stuenlpnagel JR et al: BeadArray technology: enabling an accurate, cost-efficient approach to high-throughput genotyping. Biotechniques 2002; 32: S56-S61. (Pubitemid 34615025)
22. Fan JB, Oliphant A, Shen R et al: Highly parallel SNP genotyping. Cold Spring Harb Symp Quant Biol 2003; 68: 69-78. (Pubitemid 38955554)
23. Laird NM, Horvath S, Xu X: Implementing a unified approach to family-based tests of association. Genet Epidem 2000; 19 (Suppl 1): S36-S42.
24. Rabinowitz D, Laird N: A unified approach to adjusting association tests for population admixture with arbitrary pedigree structure arbitary missing marker information. Hum Hered 2000; 50: 211-223. (Pubitemid 30232624)
25. Stata Corporation: Intercooled Stata for Mac, version 8.2,. College Station: TX, 2005.
26. Weinberg CR: Methods for detection of parent-of-origin effects in genetic studies of case-parents triads. Am J Hum Genet 1999; 65: 229-235.
27. Knapp M, Becker T: Family-based association analysis with tightly linked markers. Hum Hered 2003; 56: 2-9. (Pubitemid 37465065)
28. Becker T, Knapp M: Maximum-likelihood estimation of haplotype frequencies in nuclear families. Genet Epidemiol 2004; 27: 21-32. (Pubitemid 38808342)
29. Becker T, Baur MP, Knapp M: Detection of parent-of-origin effects in nuclear families using haplotype analysis. Hum Hered 2006; 62: 64-76. (Pubitemid 44689372)
30. Barrett JC, Fry B, Maller J et al: Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21: 263-265. (Pubitemid 40202029)
31. Mathias RA, Gao P, Goldstein JL et al: A graphical assessment of P-values from sliding window haplotype tests of association to identify asthma susceptibility loci on chromosome 11q. BMC Genet 2006; 7: 38. (Pubitemid 44173140)
32. McKusick VA, Egeland JA, Eldridge R, Krusen DE: Dwarfism in the Amish The Ellis-van Creveld syndrome. Bull Johns Hopkins Hosp 1964; 115: 306-336.
33. Digilio MC, Marino B, Giannotti A, Dallapiccola B: Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome. Hum Genet 1995; 96: 251-253.
34. Spranger S, Tariverdian G: Symptomatic heterozygosity in the Ellis-van-Creveld syndrome? Clin Genet 1995; 47: 217-220.
35. Online Mendelian Inheritance in Man, Weyers Acrofacial Dysostosis [193530], http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id-193530 accessed October 31 2006.
36. Hecht JT, Mulliken JB, Blanton SH: Evidence for a cleft palate only locus on chromosome 4 near MSX1. Am J Med Genet 2002; 110: 406-407.
37. Hatsuzawa K, Hirose H, Tani K et al: Syntaxin 18, a SNAP receptor that functions in the endoplasmic reticulum, intermediate compartment, and cis-Golgi vesicle trafficking. J Biol Chem 2000; 275: 13713-13720. (Pubitemid 30257442)
38. Nkajima K, Hirose H, Taniguchi M et al: Involvement of BNIP1 in apoptosis and endoplasmic reticulum membrane fusion. EMBO J 2004; 23: 3216-3226. (Pubitemid 39209146)
39. Bassett T, Harpur B, Poon HY et al: Effective stimulation of growth in MCF-7 human breast cancer cells by inhibition of syntaxin18 by external guide sequence and ribonuclease P. Cancer Lett 2008; 272: 167-175.
40. Sperber G: Formation of the primary palate; in: Wysnynski DF (ed): New York: Cleft Lip and Palate 2002, pp 6-7.
41. Sperber G: Palatogenesis: closure of the secondary palate; In: Wysnynski DF (ed): New York: Cleft Lip and Palate 2002, pp 14-23.
42. Menezes R, Marazita ML, Goldstein McHenry T et al: AXIS inhibition protein 2, orofacial clefts and a family history of cancer. J Am Dent Assoc 2009; 140: 80-84.
43. Online Mendelian Inheritance in Man, Orofacial Cleft 1 [119530], http://www.ncbi. nlm.nih.gov/entrez/dispomim.cgi?id-119530 accessed June 21 2009.
44. Karolchik D, Baertsch R, Diekhans M et al: The UCSC genome browser database. Nucl Acids Res 2003; 31: 51-54. (Pubitemid 36150331)