Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
QIMR Home Page
GenEpi Home Page
Publications
Contacts
Research
Staff Index
Collaborators
Software Tools
Computing Resources
Studies
Search
GenEpi Intranet
PMID
1361101
TITLE
Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci.
ABSTRACT
The first association study of cleft lip with or without cleft palate (CL/P), with candidate genes, found an association with the transforming growth-factor alpha (TGFA) locus. This finding has since been replicated, in whole or in part, in three independent studies. Here we extend our original analysis of the TGFA TaqI RFLP to two other TGFA RFLPs and seven other RFLPs at five candidate genes in 117 nonsyndromic cases of CL/P and 113 controls. The other candidate genes were the retinoic acid receptor (RARA), the bcl-2 oncogene, and the homeobox genes 2F, 2G, and EN2. Significant associations with the TGFA TaqI and BamHI RFLPs were confirmed, although associations of clefting with previously reported haplotypes did not reach significance. Of particular interest, in view of the known teratogenic role of retinoic acid, was a significant association with the RARA PstI RFLP (P = .016; not corrected for multiple testing). The effect on risk of the A2 allele appears to be additive, and although the A2A2 homozygote only has an odds ratio of about 2 and recurrence risk to first-degree relatives (lambda 1) of 1.06, because it is so common it may account for as much as a third of the attributable risk of clefting. There is no evidence of interaction between the TGFA and RARA polymorphisms on risk, and jointly they appear to account for almost half the attributable risk of clefting.
DATE PUBLISHED
1992 Dec
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 1992/12/01
medline 1992/12/01 00:01
entrez 1992/12/01 00:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Chenevix-Trench G Chenevix-Trench G G Queensland Cancer Fund Research Unit, Queensland Institute of Medical Research, Australia.
Jones K Jones K K
Green AC Green A C AC
Duffy DL Duffy D L DL
Martin NG Martin N G NG
INVESTIGATORS
JOURNAL
VOLUME: 51
ISSUE: 6
TITLE: American journal of human genetics
ISOABBREVIATION: Am. J. Hum. Genet.
YEAR: 1992
MONTH: Dec
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0002-9297
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Am J Hum Genet
COUNTRY: United States
ISSNLINKING: 0002-9297
NLMUNIQUEID: 0370475
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
Cites CRC Crit Rev Toxicol. 1979 Nov;6(4):351-75 389569
Cites Am J Med Genet. 1980;6(1):83-97 7395925
Cites Am J Hum Genet. 1992 Feb;50(2):270-7 1346481
Cites Lancet. 1992 Mar 14;339(8794):687 1347386
Cites Am J Hum Genet. 1992 Apr;50(4):870-1 1347971
Cites J Med Genet. 1992 Jun;29(6):390-2 1352354
Cites J Med Genet. 1992 Jun;29(6):393-7 1352355
Cites Comput Biomed Res. 1992 Feb;25(1):75-84 1547628
Cites Am J Hum Genet. 1992 Aug;51(2):323-32 1642234
Cites Am J Hum Genet. 1991 May;48(5):1012-3 1673285
Cites Am J Hum Genet. 1991 Sep;49(3):682-6 1679292
Cites Cell. 1991 Dec 20;67(6):1059-74 1684738
Cites Nucleic Acids Res. 1991 Apr 11;19(7):1716 1709280
Cites Am J Med Genet. 1991 Aug 1;40(2):177-82 1832818
Cites Am J Hum Genet. 1991 Sep;49(3):674-81 1882845
Cites Mol Endocrinol. 1991 Apr;5(4):514-20 1922084
Cites Nature. 1990 Aug 23;346(6286):763-6 1975088
Cites Teratology. 1990 Dec;42(6):597-610 2087681
Cites Genetics. 1990 Sep;126(1):201-5 2227380
Cites Nature. 1990 Nov 22;348(6299):334-6 2250705
Cites Nucleic Acids Res. 1989 Apr 11;17(7):2879 2566154
Cites Am J Hum Genet. 1989 Sep;45(3):348-53 2570526
Cites Nucleic Acids Res. 1989 Dec 25;17(24):10385-402 2574852
Cites Nucleic Acids Res. 1986 Sep 11;14(17):7136 2876411
Cites Nucleic Acids Res. 1987 Jul 10;15(13):5503 2885813
Cites Nucleic Acids Res. 1988 Jul 11;16(13):6252 2899875
Cites Int J Cancer. 1988 Oct 15;42(4):558-61 2902017
Cites Development. 1988;103 Suppl:213-31 3074910
Cites Nucleic Acids Res. 1988 Feb 11;16(3):1215 3344216
Cites Teratology. 1986 Jun;33(3):355-64 3461576
Cites Am J Hum Genet. 1987 Jan;40(1):1-14 3468804
Cites Proc Natl Acad Sci U S A. 1987 Mar;84(5):1329-31 3547408
Cites Am J Med Genet. 1986 Jul;24(3):465-73 3728565
Cites Am J Hum Genet. 1986 Nov;39(5):603-11 3788974
Cites Nucleic Acids Res. 1985 Oct 25;13(20):7207-21 4059056
Cites Ann Hum Genet. 1970 Jul;34(1):85-91 5476668
Cites Am J Med Genet. 1984 Sep;19(1):9-18 6496575
CommentIn Am J Hum Genet. 1993 Nov;53(5):1156-7 8213839
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Blotting, Southern
Carrier Proteins genetics
Cleft Lip genetics
Cleft Palate genetics
Female genetics
Genes, Homeobox genetics
Haplotypes genetics
Humans genetics
Male genetics
Polymorphism, Restriction Fragment Length genetics
Proto-Oncogene Proteins genetics
Proto-Oncogene Proteins c-bcl-2 genetics
Receptors, Retinoic Acid genetics
Transforming Growth Factor alpha genetics
Tretinoin genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
GENESYMBOL
2F
2G
EN2
RARA
TGFA
bcl-2
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Carrier Proteins
0 Proto-Oncogene Proteins
0 Proto-Oncogene Proteins c-bcl-2
0 Receptors, Retinoic Acid
0 Transforming Growth Factor alpha
5688UTC01R Tretinoin
OTHER ID's
OTHERID SOURCE
PMC1682912 NLM
Designed by: GenEpi IT
Maintained by: GenEpi IT
Feedback: webmaster
Copyright © 2007 QIMR
Use of this website is subject to
terms set out in our Legal Notice
epiit@qimr.edu.au
Last Modified: Oct 15 2007