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
16973828
TITLE
KRAS variation and risk of endometriosis.
ABSTRACT
Endometriosis is a common gynaecological disease with symptoms of pelvic pain and infertility which affects 7-10% of women in their reproductive years. Activation of an oncogenic allele of Kirsten rat sarcoma viral oncogene homologue (KRAS) in the reproductive tract of mice resulted in the development of endometriosis. We hypothesized that variation in KRAS may influence risk of endometriosis in humans. Thirty tagSNPs spanning a region of 60.7 kb across the KRAS locus were genotyped using iPLEX chemistry on a MALDI-TOF MassARRAY platform in 959 endometriosis cases and 959 unrelated controls, and data were analysed for association with endometriosis. Genotypes were obtained for most individuals with a mean completion rate of 99.1%. We identified six haplotype blocks across the KRAS locus in our sample. There were no significant differences between cases and controls in the frequencies of individual single-nucleotide polymorphisms (SNPs) or haplotypes. We also developed a rapid method to screen for 11 common KRAS and BRAF mutations on the Sequenom MassARRAY system. The assay detected all mutations previously identified by direct sequencing in a panel of positive controls. No germline variants for KRAS or BRAF were detected. Our results demonstrate that any risk of endometriosis in women because of common variation in KRAS must be very small.
DATE PUBLISHED
2006 Nov
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2006/09/14
pubmed 2006/09/16 09:00
medline 2007/05/03 09:00
entrez 2006/09/16 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Zhao ZZ Zhao Zhen Zhen ZZ Molecular Epidemiology Laboratory and Genetic Epidemiology Laboratory, Queensland Institute of Medical Research, Brisbane, Queensland, Australia.
Nyholt DR Nyholt Dale R DR
Le L Le Lien L
Martin NG Martin Nicholas G NG
James MR James Michael R MR
Treloar SA Treloar Susan A SA
Montgomery GW Montgomery Grant W GW
INVESTIGATORS
JOURNAL
VOLUME: 12
ISSUE: 11
TITLE: Molecular human reproduction
ISOABBREVIATION: Mol. Hum. Reprod.
YEAR: 2006
MONTH: Nov
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 1360-9947
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Mol Hum Reprod
COUNTRY: England
ISSNLINKING: 1360-9947
NLMUNIQUEID: 9513710
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Aged
Aged, 80 and over
Case-Control Studies
Cell Line, Tumor
DNA Mutational Analysis
Endometriosis surgery
Female surgery
Genes, ras surgery
Genetic Predisposition to Disease surgery
Genotype surgery
Haplotypes genetics
Humans genetics
Middle Aged genetics
Polymorphism, Single Nucleotide genetics
Proto-Oncogene Proteins B-raf genetics
Proto-Oncogene Proteins p21(ras) physiology
Queensland epidemiology
Retrospective Studies epidemiology
Risk epidemiology
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization epidemiology
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
EC 2.7.11.1 BRAF protein, human
EC 2.7.11.1 Proto-Oncogene Proteins B-raf
EC 3.6.5.2 Proto-Oncogene Proteins p21(ras)
OTHER ID's