NDLI: Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21

Content Provider	Springer Nature Link
Author	Teerlink, Craig C. Leongamornlert, Daniel Dadaev, Tokhir Thomas, Alun Farnham, James Stephenson, Robert A. Riska, Shaun McDonnell, Shann K. Schaid, Daniel J. Catalona, William J. Zheng, S. Lilly Cooney, Kathleen A. Ray, Anna M. Zuhlke, Kimberly A. Lange, Ethan M. Giles, Graham G. Southey, Melissa C. Fitzgerald, Liesel M. Rinckleb, Antje Luedeke, Manuel Maier, Christiane Stanford, Janet L. Ostrander, Elaine A. Kaikkonen, Elina M. Sipeky, Csilla Tammela, Teuvo Schleutker, Johanna Wiley, Kathleen E. Isaacs, Sarah D. Walsh, Patrick C. Isaacs, William B. Xu, Jianfeng Cancel Tassin, Geraldine Cusset, Olivier Mandal, Diptasri Laurie, Cecelia Laurie, Cathy Thibodeau, Stephen N. Eeles, Rosalind A. Kote Jarai, Zsofia Cann Albright, Lisa
Copyright Year	2016
Abstract	Previous genome-wide association studies (GWAS) of prostate cancer risk focused on cases unselected for family history and have reported over 100 significant associations. The International Consortium for Prostate Cancer Genetics (ICPCG) has now performed a GWAS of 2511 (unrelated) familial prostate cancer cases and 1382 unaffected controls from 12 member sites. All samples were genotyped on the Illumina 5M+exome single nucleotide polymorphism (SNP) platform. The GWAS identified a significant evidence for association for SNPs in six regions previously associated with prostate cancer in population-based cohorts, including 3q26.2, 6q25.3, 8q24.21, 10q11.23, 11q13.3, and 17q12. Of note, SNP rs138042437 (p = 1.7e−8) at 8q24.21 achieved a large estimated effect size in this cohort (odds ratio = 13.3). 116 previously sampled affected relatives of 62 risk-allele carriers from the GWAS cohort were genotyped for this SNP, identifying 78 additional affected carriers in 62 pedigrees. A test for an excess number of affected carriers among relatives exhibited strong evidence for co-segregation of the variant with disease (p = 8.5e−11). The majority (92 %) of risk-allele carriers at rs138042437 had a consistent estimated haplotype spanning approximately 100 kb of 8q24.21 that contained the minor alleles of three rare SNPs (dosage minor allele frequencies <1.7 %), rs183373024 (PRNCR1), previously associated SNP rs188140481, and rs138042437 (CASC19). Strong evidence for co-segregation of a SNP on the haplotype further characterizes the haplotype as a prostate cancer predisposition locus.
Starting Page	923
Ending Page	938
Page Count	16
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	135
Issue Number	8
e-ISSN	14321203
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2016-06-04
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Molecular Medicine Gene Function Metabolic Diseases
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

A genome-wide association study of prostate cancer in West African men

A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1

Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: evidence from the International Consortium for Prostate Cancer Genetics (ICPCG)

Missing data imputation and haplotype phase inference for genome-wide association studies

Erratum to: A genome-wide association study of prostate cancer in West African men

Genome-wide association study in Han Chinese identifies three novel loci for human height

Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease

Current status of genome-wide association studies in cancer

Genome-wide association study of endometrial cancer in E2C2

Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21

Similar Documents

A genome-wide association study of prostate cancer in West African men

A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1

Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: evidence from the International Consortium for Prostate Cancer Genetics (ICPCG)

Missing data imputation and haplotype phase inference for genome-wide association studies

Erratum to: A genome-wide association study of prostate cancer in West African men

Genome-wide association study in Han Chinese identifies three novel loci for human height

Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease

Current status of genome-wide association studies in cancer

Genome-wide association study of endometrial cancer in E2C2

Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21