A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

Ian P. M Tomlinson, Iina Niittymäki, Sari Tuupanen, Auli Karhu, Lauri A Aaltonen, CORGI Consortium and EPICOLON Consortium

    Research output: Contribution to journalArticleScientificpeer-review

    Abstract

    "To identify colorectal cancer (CRC) susceptibility alleles, we conducted a genome-wide association study. In phase 1, we genotyped 550,163 tagSNPs in 940 familial colorectal tumor cases (627 CRC, 313 high-risk adenoma) and 965 controls. In phase 2, we genotyped 42,708 selected SNPs in 2,873 CRC cases and 2,871 controls. In phase 3, we evaluated 11 SNPs showing association at P < 10(-4) in a joint analysis of phases 1 and 2 in 4,287 CRC cases and 3,743 controls. Two SNPs were taken forward to phase 4 genotyping ( 10,731 CRC cases and 10,961 controls from eight centers). In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previously unreported associations: rs10795668, located at 10p14 (P=2.5 x 10(-13) overall; P=6.9 x 10(-12) replication), and rs16892766, at 8q23.3 (P=3.3 x 10(-18) overall; P=9.6 x 10(-17) replication), which tags a plausible causative gene, EIF3H. These data provide further evidence for the 'common-disease common-variant' model of CRC predisposition."
    Original languageEnglish
    JournalNature Genetics
    Volume40
    Issue number5
    Pages (from-to)623-630
    Number of pages8
    ISSN1061-4036
    DOIs
    Publication statusPublished - 2008
    MoE publication typeA1 Journal article-refereed

    Fields of Science

    • 311 Basic medicine

    Cite this

    Tomlinson, Ian P. M ; Niittymäki, Iina ; Tuupanen, Sari ; Karhu, Auli ; Aaltonen, Lauri A ; CORGI Consortium and EPICOLON Consortium. / A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. In: Nature Genetics. 2008 ; Vol. 40, No. 5. pp. 623-630.
    @article{567632b3ade14fc38281f7d537e105d0,
    title = "A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3",
    abstract = "{"}To identify colorectal cancer (CRC) susceptibility alleles, we conducted a genome-wide association study. In phase 1, we genotyped 550,163 tagSNPs in 940 familial colorectal tumor cases (627 CRC, 313 high-risk adenoma) and 965 controls. In phase 2, we genotyped 42,708 selected SNPs in 2,873 CRC cases and 2,871 controls. In phase 3, we evaluated 11 SNPs showing association at P < 10(-4) in a joint analysis of phases 1 and 2 in 4,287 CRC cases and 3,743 controls. Two SNPs were taken forward to phase 4 genotyping ( 10,731 CRC cases and 10,961 controls from eight centers). In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previously unreported associations: rs10795668, located at 10p14 (P=2.5 x 10(-13) overall; P=6.9 x 10(-12) replication), and rs16892766, at 8q23.3 (P=3.3 x 10(-18) overall; P=9.6 x 10(-17) replication), which tags a plausible causative gene, EIF3H. These data provide further evidence for the 'common-disease common-variant' model of CRC predisposition.{"}",
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    author = "Tomlinson, {Ian P. M} and Iina Niittym{\"a}ki and Sari Tuupanen and Auli Karhu and Aaltonen, {Lauri A} and {CORGI Consortium and EPICOLON Consortium}",
    year = "2008",
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    Tomlinson, IPM, Niittymäki, I, Tuupanen, S, Karhu, A, Aaltonen, LA & CORGI Consortium and EPICOLON Consortium 2008, 'A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3', Nature Genetics, vol. 40, no. 5, pp. 623-630. https://doi.org/10.1038/ng.111

    A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. / Tomlinson, Ian P. M; Niittymäki, Iina; Tuupanen, Sari; Karhu, Auli; Aaltonen, Lauri A; CORGI Consortium and EPICOLON Consortium.

    In: Nature Genetics, Vol. 40, No. 5, 2008, p. 623-630.

    Research output: Contribution to journalArticleScientificpeer-review

    TY - JOUR

    T1 - A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

    AU - Tomlinson, Ian P. M

    AU - Niittymäki, Iina

    AU - Tuupanen, Sari

    AU - Karhu, Auli

    AU - Aaltonen, Lauri A

    AU - CORGI Consortium and EPICOLON Consortium

    PY - 2008

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    N2 - "To identify colorectal cancer (CRC) susceptibility alleles, we conducted a genome-wide association study. In phase 1, we genotyped 550,163 tagSNPs in 940 familial colorectal tumor cases (627 CRC, 313 high-risk adenoma) and 965 controls. In phase 2, we genotyped 42,708 selected SNPs in 2,873 CRC cases and 2,871 controls. In phase 3, we evaluated 11 SNPs showing association at P < 10(-4) in a joint analysis of phases 1 and 2 in 4,287 CRC cases and 3,743 controls. Two SNPs were taken forward to phase 4 genotyping ( 10,731 CRC cases and 10,961 controls from eight centers). In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previously unreported associations: rs10795668, located at 10p14 (P=2.5 x 10(-13) overall; P=6.9 x 10(-12) replication), and rs16892766, at 8q23.3 (P=3.3 x 10(-18) overall; P=9.6 x 10(-17) replication), which tags a plausible causative gene, EIF3H. These data provide further evidence for the 'common-disease common-variant' model of CRC predisposition."

    AB - "To identify colorectal cancer (CRC) susceptibility alleles, we conducted a genome-wide association study. In phase 1, we genotyped 550,163 tagSNPs in 940 familial colorectal tumor cases (627 CRC, 313 high-risk adenoma) and 965 controls. In phase 2, we genotyped 42,708 selected SNPs in 2,873 CRC cases and 2,871 controls. In phase 3, we evaluated 11 SNPs showing association at P < 10(-4) in a joint analysis of phases 1 and 2 in 4,287 CRC cases and 3,743 controls. Two SNPs were taken forward to phase 4 genotyping ( 10,731 CRC cases and 10,961 controls from eight centers). In addition to the previously reported 8q24, 15q13 and 18q21 CRC risk loci, we identified two previously unreported associations: rs10795668, located at 10p14 (P=2.5 x 10(-13) overall; P=6.9 x 10(-12) replication), and rs16892766, at 8q23.3 (P=3.3 x 10(-18) overall; P=9.6 x 10(-17) replication), which tags a plausible causative gene, EIF3H. These data provide further evidence for the 'common-disease common-variant' model of CRC predisposition."

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    JF - Nature Genetics

    SN - 1061-4036

    IS - 5

    ER -