Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

Alan M Pittman, Iina Niittymäki, Sari Tuupanen, Auli Karhu, Lauri A Aaltonen, CORGI Consortium and EPICOLON Consortium

    Research output: Contribution to journalArticleScientificpeer-review

    Abstract

    "The common single-nucleotide polymorphism (SNP) rs3802842 at 11q23.1 has recently been reported to be associated with risk of colorectal cancer (CRC). To examine this association in detail we genotyped rs3802842 in eight independent case-control series comprising a total of 10 638 cases and 10 457 healthy individuals. A significant association between the C allele of rs3802842 and CRC risk was found (per allele OR = 1.17; 95% confidence interval [CI]: 1.12-1.22; P = 1.08 x 10(-12)) with the risk allele more frequent in rectal than colonic disease (P = 0.02). In combination with 8q21, 8q24, 10p14, 11q, 15q13.3 and 18q21 variants, the risk of CRC increases with an increasing numbers of variant alleles for the six loci (ORper allele = 1.19; 95% CI: 1.15-1.23; P-trend = 7.4 x 10(-24)). Using the data from our genome-wide association study of CRC, LD mapping and imputation, we were able to refine the location of the causal locus to a 60 kb region and screened for coding changes. The absence of exonic mutations in any of the transcripts (FLJ45803, LOC120376, C11orf53 and POU2AF1) mapping to this region makes the association likely to be a consequence of non-coding effects on gene expression."
    Original languageEnglish
    JournalHuman Molecular Genetics
    Volume17
    Issue number23
    Pages (from-to)3720-3727
    Number of pages8
    ISSN0964-6906
    DOIs
    Publication statusPublished - 2008
    MoE publication typeA1 Journal article-refereed

    Fields of Science

    • 311 Basic medicine

    Cite this

    Pittman, Alan M ; Niittymäki, Iina ; Tuupanen, Sari ; Karhu, Auli ; Aaltonen, Lauri A ; CORGI Consortium and EPICOLON Consortium. / Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. In: Human Molecular Genetics. 2008 ; Vol. 17, No. 23. pp. 3720-3727.
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    title = "Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer",
    abstract = "{"}The common single-nucleotide polymorphism (SNP) rs3802842 at 11q23.1 has recently been reported to be associated with risk of colorectal cancer (CRC). To examine this association in detail we genotyped rs3802842 in eight independent case-control series comprising a total of 10 638 cases and 10 457 healthy individuals. A significant association between the C allele of rs3802842 and CRC risk was found (per allele OR = 1.17; 95{\%} confidence interval [CI]: 1.12-1.22; P = 1.08 x 10(-12)) with the risk allele more frequent in rectal than colonic disease (P = 0.02). In combination with 8q21, 8q24, 10p14, 11q, 15q13.3 and 18q21 variants, the risk of CRC increases with an increasing numbers of variant alleles for the six loci (ORper allele = 1.19; 95{\%} CI: 1.15-1.23; P-trend = 7.4 x 10(-24)). Using the data from our genome-wide association study of CRC, LD mapping and imputation, we were able to refine the location of the causal locus to a 60 kb region and screened for coding changes. The absence of exonic mutations in any of the transcripts (FLJ45803, LOC120376, C11orf53 and POU2AF1) mapping to this region makes the association likely to be a consequence of non-coding effects on gene expression.{"}",
    keywords = "311 Basic medicine",
    author = "Pittman, {Alan M} and Iina Niittym{\"a}ki and Sari Tuupanen and Auli Karhu and Aaltonen, {Lauri A} and {CORGI Consortium and EPICOLON Consortium}",
    year = "2008",
    doi = "10.1093/hmg/ddn267",
    language = "English",
    volume = "17",
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    journal = "Human Molecular Genetics",
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    Pittman, AM, Niittymäki, I, Tuupanen, S, Karhu, A, Aaltonen, LA & CORGI Consortium and EPICOLON Consortium 2008, 'Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer', Human Molecular Genetics, vol. 17, no. 23, pp. 3720-3727. https://doi.org/10.1093/hmg/ddn267

    Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer. / Pittman, Alan M; Niittymäki, Iina; Tuupanen, Sari; Karhu, Auli; Aaltonen, Lauri A; CORGI Consortium and EPICOLON Consortium.

    In: Human Molecular Genetics, Vol. 17, No. 23, 2008, p. 3720-3727.

    Research output: Contribution to journalArticleScientificpeer-review

    TY - JOUR

    T1 - Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

    AU - Pittman, Alan M

    AU - Niittymäki, Iina

    AU - Tuupanen, Sari

    AU - Karhu, Auli

    AU - Aaltonen, Lauri A

    AU - CORGI Consortium and EPICOLON Consortium

    PY - 2008

    Y1 - 2008

    N2 - "The common single-nucleotide polymorphism (SNP) rs3802842 at 11q23.1 has recently been reported to be associated with risk of colorectal cancer (CRC). To examine this association in detail we genotyped rs3802842 in eight independent case-control series comprising a total of 10 638 cases and 10 457 healthy individuals. A significant association between the C allele of rs3802842 and CRC risk was found (per allele OR = 1.17; 95% confidence interval [CI]: 1.12-1.22; P = 1.08 x 10(-12)) with the risk allele more frequent in rectal than colonic disease (P = 0.02). In combination with 8q21, 8q24, 10p14, 11q, 15q13.3 and 18q21 variants, the risk of CRC increases with an increasing numbers of variant alleles for the six loci (ORper allele = 1.19; 95% CI: 1.15-1.23; P-trend = 7.4 x 10(-24)). Using the data from our genome-wide association study of CRC, LD mapping and imputation, we were able to refine the location of the causal locus to a 60 kb region and screened for coding changes. The absence of exonic mutations in any of the transcripts (FLJ45803, LOC120376, C11orf53 and POU2AF1) mapping to this region makes the association likely to be a consequence of non-coding effects on gene expression."

    AB - "The common single-nucleotide polymorphism (SNP) rs3802842 at 11q23.1 has recently been reported to be associated with risk of colorectal cancer (CRC). To examine this association in detail we genotyped rs3802842 in eight independent case-control series comprising a total of 10 638 cases and 10 457 healthy individuals. A significant association between the C allele of rs3802842 and CRC risk was found (per allele OR = 1.17; 95% confidence interval [CI]: 1.12-1.22; P = 1.08 x 10(-12)) with the risk allele more frequent in rectal than colonic disease (P = 0.02). In combination with 8q21, 8q24, 10p14, 11q, 15q13.3 and 18q21 variants, the risk of CRC increases with an increasing numbers of variant alleles for the six loci (ORper allele = 1.19; 95% CI: 1.15-1.23; P-trend = 7.4 x 10(-24)). Using the data from our genome-wide association study of CRC, LD mapping and imputation, we were able to refine the location of the causal locus to a 60 kb region and screened for coding changes. The absence of exonic mutations in any of the transcripts (FLJ45803, LOC120376, C11orf53 and POU2AF1) mapping to this region makes the association likely to be a consequence of non-coding effects on gene expression."

    KW - 311 Basic medicine

    U2 - 10.1093/hmg/ddn267

    DO - 10.1093/hmg/ddn267

    M3 - Article

    VL - 17

    SP - 3720

    EP - 3727

    JO - Human Molecular Genetics

    JF - Human Molecular Genetics

    SN - 0964-6906

    IS - 23

    ER -