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Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a Cis-acting regulator of EIF3H
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نویسنده
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pittman a.m. ,naranjo s. ,jalava s.e. ,twiss p. ,ma y. ,olver b. ,lloyd a. ,vijayakrishnan j. ,qureshi m. ,broderick p. ,van wezel t. ,morreau h. ,tuupanen s. ,aaltonen l.a. ,alonso m.e. ,manzanares m. ,gavilán a. ,visakorpi t. ,gómez-skarmeta j.l. ,houlston r.s.
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منبع
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plos genetics - 2010 - دوره : 6 - شماره : 9
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چکیده
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Common genetic variation at human 8q23.3 is significantly associated with colorectal cancer (crc) risk. to elucidate the basis of this association we compared the frequency of common variants at 8q23.3 in 1,964 crc cases and 2,081 healthy controls. reporter gene studies showed that the single nucleotide polymorphism rs16888589 acts as an allele-specific transcriptional repressor. chromosome conformation capture (3c) analysis demonstrated that the genomic region harboring rs16888589 interacts with the promoter of gene for eukaryotic translation initiation factor 3,subunit h (eif3h). we show that increased expression of eif3h gene increases crc growth and invasiveness thereby providing a biological mechanism for the 8q23.3 association. these data provide evidence for a functional basis for the non-coding risk variant rs16888589 at 8q23.3 and provides novel insight into the etiological basis of crc. © 2010 pittman et al.
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آدرس
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section of cancer genetics,institute of cancer research,sutton, United Kingdom, centro andaluz de biología del desarrollo,csic-upo,seville, Spain, institute of medical technology,university of tampere and tampere university hospital,tampere, Finland, section of cancer genetics,institute of cancer research,sutton, United Kingdom, section of cancer genetics,institute of cancer research,sutton, United Kingdom, section of cancer genetics,institute of cancer research,sutton, United Kingdom, section of cancer genetics,institute of cancer research,sutton, United Kingdom, section of cancer genetics,institute of cancer research,sutton, United Kingdom, section of cancer genetics,institute of cancer research,sutton, United Kingdom, section of cancer genetics,institute of cancer research,sutton, United Kingdom, department of pathology,leiden university medical center,leiden, Netherlands, department of pathology,leiden university medical center,leiden, Netherlands, department of medical genetics,university of helsinki,helsinki, Finland, department of medical genetics,university of helsinki,helsinki, Finland, centro nacional de investigaciones cardiovasculares,madrid, Spain, centro nacional de investigaciones cardiovasculares,madrid, Spain, centro nacional de investigaciones biomédica en red enfermedades raras (ciberer),universidad pablo de olavide-csic,seville, Spain, institute of medical technology,university of tampere and tampere university hospital,tampere, Finland, centro andaluz de biología del desarrollo,csic-upo,seville, Spain, section of cancer genetics,institute of cancer research,sutton, United Kingdom
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Authors
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