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A Swedish Genome-Wi...
A Swedish Genome-Wide Haplotype Association Analysis Identifies a Novel Breast Cancer Susceptibility Locus in 8p21.2 and Characterizes Three Loci on Chromosomes 10, 11 and 16
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- Barnekow, Elin (author)
- Karolinska Institutet
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- Liu, Wen (author)
- Uppsala universitet,Schiöth: Funktionell farmakologi,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
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- Helgadottir, Hafdis T. (author)
- Karolinska Institutet
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- Michailidou, Kyriaki (author)
- Cyprus Sch Mol Med, Cyprus Inst Neurol & Genet, Nicosia, Cyprus.
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- Dennis, Joe (author)
- Univ Cambridge, Ctr Canc Genet Epidemiol, Cambridge, England.
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- Bryant, Patrick (author)
- Stockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab),Karolinska Institutet, Sweden,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Stockholm Univ, Dept Biochem & Biophys, Stockholm, Sweden.;Sci Life Lab, Stockholm, Sweden.
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- Thutkawkorapin, Jessada (author)
- Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Chulalongkorn Univ, Fac Engn, Dept Comp Engn, Bangkok, Thailand.
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- Wendt, Camilla (author)
- Karolinska Institutet
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- Czene, Kamila (author)
- Karolinska Institutet
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- Hall, Per (author)
- Karolinska Institutet
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- Margolin, Sara (author)
- Karolinska Institutet
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- Lindblom, Annika (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2022-02-25
- 2022
- English.
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In: Cancers. - : MDPI AG. - 2072-6694. ; 14:5
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Abstract
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- Background: The heritability of breast cancer is partly explained but much of the genetic contribution remains to be identified. Haplotypes are often used as markers of ethnicity as they are preserved through generations. We have previously demonstrated that haplotype analysis, in addition to standard SNP association studies, could give novel and more detailed information on genetic cancer susceptibility.Methods: In order to examine the association of a SNP or a haplotype to breast cancer risk, we performed a genome wide haplotype association study, using sliding window analysis of window sizes 1-25 and 50 SNPs, in 3200 Swedish breast cancer cases and 5021 controls.Results: We identified a novel breast cancer susceptibility locus in 8p21.1 (OR 2.08; p 3.92 x 10(-8)), confirmed three known loci in 10q26.13, 11q13.3, 16q12.1-2 and further identified novel subloci within these three loci. Altogether 76 risk SNPs, 3302 risk haplotypes of window size 2-25 and 113 risk haplotypes of window size 50 at p < 5 x 10(-8) on chromosomes 8, 10, 11 and 16 were identified. In the known loci haplotype analysis reached an OR of 1.48 in overall breast cancer and in familial cases OR 1.68.Conclusions: Analyzing haplotypes, rather than single variants, could detect novel susceptibility loci even in small study populations but the method requires a fairly homogenous study population.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- BNIP3L
- FGFR2
- TOX3
- CASC16
- breast cancer
- GWAS
- haplotype
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- ref (subject category)
- art (subject category)
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Cancers
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- By the author/editor
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Barnekow, Elin
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Liu, Wen
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Helgadottir, Haf ...
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Michailidou, Kyr ...
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Dennis, Joe
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Bryant, Patrick
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Thutkawkorapin, ...
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Wendt, Camilla
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Czene, Kamila
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Hall, Per
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Margolin, Sara
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Lindblom, Annika
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Cancers
- By the university
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Uppsala University
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Stockholm University
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Karolinska Institutet