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.
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PMID
17158817
TITLE
Significant evidence of one or more susceptibility loci for endometriosis with near-Mendelian inheritance on chromosome 7p13-15.
ABSTRACT
BACKGROUND NlmCategory: BACKGROUND
Endometriosis is a common disease with a heritable component. The collaborative International Endogene Study consists of two data sets (Oxford and Australia) comprising 1176 families with multiple affected. The aim was to investigate whether the apparent concentration of cases in a proportion of families could be explained by one or more rare variants with (near-)Mendelian autosomal inheritance.
METHODS AND RESULTS NlmCategory: RESULTS
Linkage analyses (aimed at finding chromosomal regions harbouring disease-predisposing genes) were conducted in families with three or more affected (Oxford: n = 52; Australia: n = 196). In the Oxford data set, a non-parametric linkage score (Kong & Cox (K&C) Log of ODds (LOD)) of 3.52 was observed on chromosome 7p (genome-wide significance P = 0.011). A parametric MOD score (equal to maximum LOD maximized over 357 possible inheritance models) of 3.89 was found at 65.72 cM (D7S510) for a dominant model with reduced penetrance. After including the Australian data set, the non-parametric K&C LOD of the combined data set was 1.46 at 57.3 cM; the parametric analysis found an MOD score of 3.30 at D7S484 (empirical significance: P = 0.035) for a recessive model with high penetrance. Critical recombinant analysis narrowed the probable region of linkage down to overlapping 6.4 Mb and 11 Mb intervals containing 48 and 96 genes, respectively.
CONCLUSIONS NlmCategory: CONCLUSIONS
This is the first report to suggest that there may be one or more high-penetrance susceptibility loci for endometriosis with (near-)Mendelian inheritance.
DATE PUBLISHED
2007 Mar
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2006/12/11
pubmed 2006/12/13 09:00
medline 2007/05/05 09:00
entrez 2006/12/13 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Zondervan KT Zondervan Krina T KT Wellcome Trust Centre for Human Genetics, University of Oxford, UK. krinaz@well.ox.ac.uk
Treloar SA Treloar Susan A SA
Lin J Lin Jianghai J
Weeks DE Weeks Daniel E DE
Nyholt DR Nyholt Dale R DR
Mangion J Mangion Jon J
MacKay IJ MacKay Ian J IJ
Cardon LR Cardon Lon R LR
Martin NG Martin Nicholas G NG
Kennedy SH Kennedy Stephen H SH
Montgomery GW Montgomery Grant W GW
INVESTIGATORS
JOURNAL
VOLUME: 22
ISSUE: 3
TITLE: Human reproduction (Oxford, England)
ISOABBREVIATION: Hum. Reprod.
YEAR: 2007
MONTH: Mar
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0268-1161
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Hum Reprod
COUNTRY: England
ISSNLINKING: 0268-1161
NLMUNIQUEID: 8701199
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Multicenter Study
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Australia
Chromosomes, Human, Pair 7 genetics
Endometriosis genetics
Female genetics
Genetic Linkage genetics
Genetic Predisposition to Disease genetics
Great Britain genetics
Haplotypes genetics
Humans genetics
Lod Score genetics
Phenotype genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's