Genetic Epidemiology, Psychiatric Genetics, Asthma 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.
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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
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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