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  • 1
    Publication Date: 2012-07-31
    Description:    Many anthropometric measures, including body mass index (BMI), waist-to-hip ratio (WHR), and subcutaneous fat thickness, are used as indicators of nutritional status, fertility and predictors of future health outcomes. While BMI is currently the best available estimate of body adiposity, WHR and skinfold thickness at various sites (biceps, triceps, suprailiac, and subscapular) are used as indices of body fat distribution. Copy number variation (CNV) is an attractive emerging approach to the study of associations with various diseases. In this study, we investigated the dosage effect of genes in the CNV genome widely associated with fat distribution phenotypes in large cohorts. We used the Affymetrix genome-wide human SNP Array 5.0 data of 8,842 healthy unrelated adults in KARE cohorts and identified CNVs associated with BMI and fat distribution-related traits including WHR and subcutaneous skinfold thickness at suprailiac (SUP) and subscapular (SUB) sites. CNV segmentation of each chromosome was performed using Golden Helix SVS 7.0, and single regression analysis was used to identify CNVs associated with each phenotype. We found one CNV for BMI, 287 for WHR, 2,157 for SUP, and 2,102 for SUB at the 5 % significance level after Holm–Bonferroni correction. Genes included in the CNV were used for the analysis of functional annotations using the Database for Annotation, Visualization and Integrated Discovery (DAVID v6.7b) tool. Functional gene classification analysis identified five significant gene clusters (metallothionein, ATP-binding proteins, ribosomal proteins, kinesin family members, and zinc finger proteins) for SUP, three (keratin-associated proteins, zinc finger proteins, keratins) for SUB, and one (protamines) for WHR. BMI was excluded from this analysis because the entire structure of no gene was identified in the CNV. Based on the analysis of genes enriched in the clusters, the fat distribution traits of KARE cohorts were related to the fat redistribution associated with the aging process. In addition to structural variation, dosage effect analysis of genes based on CNV is useful to gain an understanding of the comprehensive biological phenomena underlying particular phenotypes and/or diseases. Content Type Journal Article Category Original Investigation Pages 1-10 DOI 10.1007/s00439-012-1203-1 Authors Bo-Young Lee, Laboratory of Bioinformatics and Population Genetics, Department of Agricultural Biotechnology, Seoul National University, Seoul, 151-742 Republic of Korea Dong Hyun Shin, Laboratory of Bioinformatics and Population Genetics, Department of Agricultural Biotechnology, Seoul National University, Seoul, 151-742 Republic of Korea Seoae Cho, Department of Statistics, University of California, Berkeley, 367 Evans Hall, Berkeley, CA 94720-3860, USA Kang-Seok Seo, Department of Animal Science and Technology, Sunchon National University, 414 Jungangno (315 Maegok), Suncheon, Jeollanam-do 540-742, Republic of Korea Heebal Kim, Laboratory of Bioinformatics and Population Genetics, Department of Agricultural Biotechnology, Seoul National University, Seoul, 151-742 Republic of Korea Journal Human Genetics Online ISSN 1432-1203 Print ISSN 0340-6717
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  • 2
    Publication Date: 2012-11-08
    Description:    Exome sequencing identifies thousands of DNA variants and a proportion of these are involved in disease. Genotypes derived from exome sequences provide particularly high-resolution coverage enabling study of the linkage disequilibrium structure of individual genes. The extent and strength of linkage disequilibrium reflects the combined influences of mutation, recombination, selection and population history. By constructing linkage disequilibrium maps of individual genes, we show that genes containing OMIM-listed disease variants are significantly under - represented amongst genes with complete or very strong linkage disequilibrium ( P  = 0.0004). In contrast, genes with disease variants are significantly over - represented amongst genes with levels of linkage disequilibrium close to the average for genes not known to contain disease variants ( P  = 0.0038). Functional clustering reveals, amongst genes with particularly strong linkage disequilibrium, significant enrichment of essential biological functions (e.g. phosphorylation, cell division, cellular transport and metabolic processes). Strong linkage disequilibrium, corresponding to reduced haplotype diversity, may reflect selection in utero against deleterious mutations which have profound impact on the function of essential genes. Genes with very weak linkage disequilibrium show enrichment of functions requiring greater allelic diversity (e.g. sensory perception and immune response). This category is not enriched for genes containing disease variation. In contrast, there is significant enrichment of genes containing disease variants amongst genes with more average levels of linkage disequilibrium. Mutations in these genes may less likely lead to in utero lethality and be subject to less intense selection. Content Type Journal Article Category Original Investigation Pages 1-11 DOI 10.1007/s00439-012-1243-6 Authors Jane Gibson, Genetic Epidemiology and Genomic informatics Group, Human Genetics, Faculty of Medicine, University of Southampton, Duthie Building (808), Southampton General Hospital, Tremona Road, Southampton, SO16 6YD UK William Tapper, Genetic Epidemiology and Genomic informatics Group, Human Genetics, Faculty of Medicine, University of Southampton, Duthie Building (808), Southampton General Hospital, Tremona Road, Southampton, SO16 6YD UK Sarah Ennis, Genetic Epidemiology and Genomic informatics Group, Human Genetics, Faculty of Medicine, University of Southampton, Duthie Building (808), Southampton General Hospital, Tremona Road, Southampton, SO16 6YD UK Andrew Collins, Genetic Epidemiology and Genomic informatics Group, Human Genetics, Faculty of Medicine, University of Southampton, Duthie Building (808), Southampton General Hospital, Tremona Road, Southampton, SO16 6YD UK Journal Human Genetics Online ISSN 1432-1203 Print ISSN 0340-6717
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  • 3
    Publication Date: 2012-11-08
    Description:    Colorectal cancer (CRC), one of the most frequent neoplasias worldwide, has both genetic and environmental causes. As yet, however, gene–environment (G × E) interactions in CRC have been studied mostly for a small number of candidate genes only. Therefore, we investigated the possible interaction, in CRC etiology, between single-nucleotide polymorphisms (SNPs) on the one hand, and overweight, smoking and alcohol consumption on the other, at a genome-wide level. To this end, we adopted a two-tiered approach comprising a case-only screening stage I (314 cases) and a case–control validation stage II (259 cases, 1,002 controls). Interactions with the smallest p value in stage I were verified in stage II using multiple logistic regression analysis adjusted for sex and age. In addition, we specifically studied known CRC-associated SNPs for possible G × E interactions. Upon adjustment for sex and age, and after allowing for multiple testing, however, only a single SNP (rs1944511) was found to be involved in a statistically significant interaction, namely with overweight (multiplicity-corrected p  = 0.042 in stage II). Several other G × E interactions were nominally significant but failed correction for multiple testing, including a previously reported interaction between rs9929218 and alcohol consumption that also emerged in our candidate SNP study (nominal p  = 0.008). Notably, none of the interactions identified in our genome-wide analysis was with a previously reported CRC-associated SNP. Our study therefore highlights the potential of an “agnostic” genome-wide approach to G × E analysis. Content Type Journal Article Category Original Investigation Pages 1-13 DOI 10.1007/s00439-012-1239-2 Authors Sabine Siegert, Section of Epidemiology, Institute of Experimental Medicine, Christian-Albrechts University Kiel, Kiel, Germany Jochen Hampe, Department of General Internal Medicine, University Hospital Schleswig-Holstein, Kiel, Germany Clemens Schafmayer, Department of General and Thoracic Surgery, University Hospital Schleswig-Holstein, Kiel, Germany Witigo von Schönfels, Department of General and Thoracic Surgery, University Hospital Schleswig-Holstein, Kiel, Germany Jan-Hendrik Egberts, Department of General and Thoracic Surgery, University Hospital Schleswig-Holstein, Kiel, Germany Asta Försti, Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany Bowang Chen, Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany Jesús Lascorz, Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany Kari Hemminki, Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany Andre Franke, Institute of Clinical Molecular Biology, Christian-Albrechts University Kiel, Kiel, Germany Michael Nothnagel, Institute of Medical Informatics and Statistics, Christian-Albrechts University Kiel, Brunswiker Straße 10, 24105 Kiel, Germany Ute Nöthlings, Section of Epidemiology, Institute of Experimental Medicine, Christian-Albrechts University Kiel, Kiel, Germany Michael Krawczak, Institute of Medical Informatics and Statistics, Christian-Albrechts University Kiel, Brunswiker Straße 10, 24105 Kiel, Germany Journal Human Genetics Online ISSN 1432-1203 Print ISSN 0340-6717
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  • 4
    Publication Date: 2012-11-08
    Description: Leon E. Rosenberg and Diane Drobnis Rosenberg: Human Genes and Genomes: Science, Health, Society Content Type Journal Article Category Book Review Pages 1-1 DOI 10.1007/s00439-012-1242-7 Authors Arveen Kamath, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK Journal Human Genetics Online ISSN 1432-1203 Print ISSN 0340-6717
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  • 5
    Publication Date: 2012-11-08
    Description:    Bone and muscle, two major tissue types of musculoskeletal system, have strong genetic determination. Abnormality in bone and/or muscle may cause musculoskeletal diseases such as osteoporosis and sarcopenia. Bone size phenotypes (BSPs), such as hip bone size (HBS), appendicular bone size (ABS), are genetically correlated with body lean mass (mainly muscle mass). However, the specific genes shared by these phenotypes are largely unknown. In this study, we aimed to identify the specific genes with pleiotropic effects on BSPs and appendicular lean mass (ALM). We performed a bivariate genome-wide association study (GWAS) by analyzing ~690,000 SNPs in 1,627 unrelated Han Chinese adults (802 males and 825 females) followed by a replication study in 2,286 unrelated US Caucasians (558 males and 1,728 females). We identified 14 interesting single nucleotide polymorphisms (SNPs) that may contribute to variation of both BSPs and ALM, with p values 〈10 −6 in discovery stage. Among them, the association of three SNPs ( rs2507838 , rs7116722 , and rs11826261 ) in/near GLYAT (glycine- N -acyltransferase) gene was replicated in US Caucasians, with p values ranging from 1.89 × 10 −3 to 3.71 × 10 −4 for ALM–ABS, from 5.14 × 10 −3 to 1.11 × 10 −2 for ALM–HBS, respectively. Meta-analyses yielded stronger association signals for rs2507838 , rs7116722 , and rs11826261 , with pooled p values of 1.68 × 10 −8 , 7.94 × 10 −8 , 6.80 × 10 −8 for ALB–ABS and 1.22 × 10 −4 , 9.85 × 10 −5 , 3.96 × 10 −4 for ALM–HBS, respectively. Haplotype allele ATA based on these three SNPs was also associated with ALM–HBS and ALM–ABS in both discovery and replication samples. Interestingly, GLYAT was previously found to be essential to glucose metabolism and energy metabolism, suggesting the gene’s dual role in both bone development and muscle growth. Our findings, together with the prior biological evidence, suggest the importance of GLYAT gene in co-regulation of bone phenotypes and body lean mass. Content Type Journal Article Category Original Investigation Pages 1-11 DOI 10.1007/s00439-012-1236-5 Authors Yan-Fang Guo, School of Basic Medical Science, Institute of Bioinformatics, Southern Medical University, Guangzhou, 510515 People’s Republic of China Li-Shu Zhang, School of Science, College of Life Sciences and Bioengineering, Beijing Jiaotong University, Beijing, 100044 People’s Republic of China Yong-Jun Liu, Department of Biostatistics, School of Public Health and Tropical Medicine, Center for Bioinformatics and Genomics, Tulane University, New Orleans, LA 70112, USA Hong-Gang Hu, School of Science, College of Life Sciences and Bioengineering, Beijing Jiaotong University, Beijing, 100044 People’s Republic of China Jian Li, Department of Biostatistics, School of Public Health and Tropical Medicine, Center for Bioinformatics and Genomics, Tulane University, New Orleans, LA 70112, USA Qing Tian, Department of Biostatistics, School of Public Health and Tropical Medicine, Center for Bioinformatics and Genomics, Tulane University, New Orleans, LA 70112, USA Ping Yu, Department of Biostatistics, School of Public Health and Tropical Medicine, Center for Bioinformatics and Genomics, Tulane University, New Orleans, LA 70112, USA Feng Zhang, The Key Laboratory of Biomedical Information Engineering, Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi’an Jiaotong University, Xi’an, 710049 People’s Republic of China Tie-Lin Yang, The Key Laboratory of Biomedical Information Engineering, Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi’an Jiaotong University, Xi’an, 710049 People’s Republic of China Yan Guo, The Key Laboratory of Biomedical Information Engineering, Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi’an Jiaotong University, Xi’an, 710049 People’s Republic of China Xiang-Lei Peng, School of Science, College of Life Sciences and Bioengineering, Beijing Jiaotong University, Beijing, 100044 People’s Republic of China Meng Dai, School of Science, College of Life Sciences and Bioengineering, Beijing Jiaotong University, Beijing, 100044 People’s Republic of China Wei Chen, Department of Epidemiology, School of Public Health and Tropical Medicine, Center for Cardiovascular Health, Tulane University, New Orleans, LA 70112, USA Hong-Wen Deng, School of Science, College of Life Sciences and Bioengineering, Beijing Jiaotong University, Beijing, 100044 People’s Republic of China Journal Human Genetics Online ISSN 1432-1203 Print ISSN 0340-6717
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  • 6
    Publication Date: 2012-09-24
    Description: Familial prostate cancer and HOXB13 founder mutations: geographic and racial/ethnic variations Content Type Journal Article Category Editorial Pages 1-4 DOI 10.1007/s00439-012-1226-7 Authors Henry T. Lynch, Department of Preventive Medicine and Public Health, Creighton University, 2500 California Plaza, Omaha, NE 68178, USA Trudy G. Shaw, Department of Preventive Medicine and Public Health, Creighton University, 2500 California Plaza, Omaha, NE 68178, USA Journal Human Genetics Online ISSN 1432-1203 Print ISSN 0340-6717
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  • 7
    Publication Date: 2012-09-29
    Description:    Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder that is generally inherited in an autosomal recessive fashion. However, in some families, trans mutant alleles interact with the primary causal locus to modulate the penetrance and/or the expressivity of the phenotype. CCDC28B ( MGC1203 ) was identified as a second site modifier of BBS encoding a protein of unknown function. Here we report the first functional characterization of this protein and show it affects ciliogenesis both in cultured cells and in vivo in zebrafish. Consistent with this biological role, our in silico analysis shows that the presence of CCDC28B homologous sequences is restricted to ciliated metazoa. Depletion of Ccdc28b in zebrafish results in defective ciliogenesis and consequently causes a number of phenotypes that are characteristic of BBS and other ciliopathy mutants including hydrocephalus, left–right axis determination defects and renal function impairment. Thus, this work reports CCDC28B as a novel protein involved in the process of ciliogenesis whilst providing functional insight into the cellular basis of its modifier effect in BBS patients. Content Type Journal Article Category Original Investigation Pages 1-15 DOI 10.1007/s00439-012-1228-5 Authors Magdalena Cardenas-Rodriguez, Human Molecular Genetics Laboratory, Institut Pasteur de Montevideo, Mataojo 2020, 11400 Montevideo, Uruguay Daniel P. S. Osborn, Molecular Medicine Unit, Institute of Child Health, University College London, 30 Guilford St, London, WC1N 1EH UK Florencia Irigoín, Human Molecular Genetics Laboratory, Institut Pasteur de Montevideo, Mataojo 2020, 11400 Montevideo, Uruguay Martín Graña, Bioinformatics Unit, Institut Pasteur de Montevideo, Mataojo 2020, 11400 Montevideo, Uruguay Héctor Romero, Laboratorio de Organización y Evolución del Genoma, Facultad de Ciencias/C.U.R.E., Universidad de la República, Iguá 4225, 11400 Montevideo, Uruguay Philip L. Beales, Molecular Medicine Unit, Institute of Child Health, University College London, 30 Guilford St, London, WC1N 1EH UK Jose L. Badano, Human Molecular Genetics Laboratory, Institut Pasteur de Montevideo, Mataojo 2020, 11400 Montevideo, Uruguay Journal Human Genetics Online ISSN 1432-1203 Print ISSN 0340-6717
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  • 8
    Publication Date: 2012-10-01
    Description:    One of the persistent challenges of genetic association studies is the replication of genetic marker-disease associations across ethnic groups. Here, we conducted high-density association mapping of PARK2 / PACRG SNPs with leprosy and identified 69 SNPs significantly associated with leprosy in 198 single-case Vietnamese leprosy families. A total of 56 associated SNPs localized to the overlapping promoter regions of PARK2 / PACRG . For this region, multivariate analysis identified four SNPs belonging to two major SNP bins (rs1333955, rs7744433) and two single SNP bins (rs2023004, rs6936895) that capture the combined statistical evidence ( P  = 1.1 × 10 −5 ) for association among Vietnamese patients. Next, we enrolled a case–control sample of 364 leprosy cases and 370 controls from Northern India. We genotyped all subjects for 149 SNPs that capture 〉80 % of the genetic variation in the Vietnamese sample and found 24 SNPs significantly associated with leprosy. Multivariate analysis identified three SNPs (rs1333955, rs9356058 and rs2023004) that capture the association with leprosy ( P  〈 10 −8 ). Hence, two SNPs (rs1333955 and rs2023004) were replicated by multivariate analysis between both ethnic groups. Marked differences in the linkage disequilibrium pattern explained some of the differences in univariate analysis between the two ethnic groups. In addition, the strength of association for two promoter region SNP bins was significantly stronger among young leprosy patients in the Vietnamese sample. The same trend was observed in the Indian sample, but due to the higher age-at-diagnosis of the patients the age effect was less pronounced. Content Type Journal Article Category Original Investigation Pages 1-10 DOI 10.1007/s00439-012-1227-6 Authors Andrea Alter, McGill Centre for the Study of Host Resistance, Research Institute of the McGill University Health Centre, Montreal, QC, Canada Vinicius Medeiros Fava, McGill Centre for the Study of Host Resistance, Research Institute of the McGill University Health Centre, Montreal, QC, Canada Nguyen Thu Huong, Hospital for Dermato-Venereology, Nguyen Thong Street, District 3, Ho Chi Minh City, Vietnam Meenakshi Singh, Department of Transplant Immunology and Immunogenetics, All India Institute of Medical Sciences, Ansari Nagar, 110029 New Delhi, India Marianna Orlova, McGill Centre for the Study of Host Resistance, Research Institute of the McGill University Health Centre, Montreal, QC, Canada Nguyen Van Thuc, Hospital for Dermato-Venereology, Nguyen Thong Street, District 3, Ho Chi Minh City, Vietnam Kiran Katoch, Central JALMA Institute of Leprosy and Other Infectious Diseases, Taj Ganj, 282001 Agra, India Vu Hong Thai, Hospital for Dermato-Venereology, Nguyen Thong Street, District 3, Ho Chi Minh City, Vietnam Nguyen Ngoc Ba, Hospital for Dermato-Venereology, Nguyen Thong Street, District 3, Ho Chi Minh City, Vietnam Laurent Abel, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Unit 980, Paris, France Narinder Mehra, Department of Transplant Immunology and Immunogenetics, All India Institute of Medical Sciences, Ansari Nagar, 110029 New Delhi, India Alexandre Alcaïs, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Unit 980, Paris, France Erwin Schurr, McGill Centre for the Study of Host Resistance, Research Institute of the McGill University Health Centre, Montreal, QC, Canada Journal Human Genetics Online ISSN 1432-1203 Print ISSN 0340-6717
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  • 9
    Publication Date: 2012-10-15
    Description:    Prostate cancer has a strong familial component but uncovering the molecular basis for inherited susceptibility for this disease has been challenging. Recently, a rare, recurrent mutation (G84E) in HOXB13 was reported to be associated with prostate cancer risk. Confirmation and characterization of this finding is necessary to potentially translate this information to the clinic. To examine this finding in a large international sample of prostate cancer families, we genotyped this mutation and 14 other SNPs in or flanking HOXB13 in 2,443 prostate cancer families recruited by the International Consortium for Prostate Cancer Genetics (ICPCG). At least one mutation carrier was found in 112 prostate cancer families (4.6 %), all of European descent. Within carrier families, the G84E mutation was more common in men with a diagnosis of prostate cancer (194 of 382, 51 %) than those without (42 of 137, 30 %), P  = 9.9 × 10 −8 [odds ratio 4.42 (95 % confidence interval 2.56–7.64)]. A family-based association test found G84E to be significantly over-transmitted from parents to affected offspring ( P  = 6.5 × 10 −6 ). Analysis of markers flanking the G84E mutation indicates that it resides in the same haplotype in 95 % of carriers, consistent with a founder effect. Clinical characteristics of cancers in mutation carriers included features of high-risk disease. These findings demonstrate that the HOXB13 G84E mutation is present in ~5 % of prostate cancer families, predominantly of European descent, and confirm its association with prostate cancer risk. While future studies are needed to more fully define the clinical utility of this observation, this allele and others like it could form the basis for early, targeted screening of men at elevated risk for this common, clinically heterogeneous cancer. Content Type Journal Article Category Original Investigation Pages 1-10 DOI 10.1007/s00439-012-1229-4 Authors Jianfeng Xu, Data Coordinating Center for the ICPCG, Wake Forest University School of Medicine, Winston-Salem, NC, USA Ethan M. Lange, University of Michigan ICPCG Group, University of Michigan Medical School, Ann Arbor, MI, USA Lingyi Lu, Data Coordinating Center for the ICPCG, Wake Forest University School of Medicine, Winston-Salem, NC, USA Siqun L. Zheng, Data Coordinating Center for the ICPCG, Wake Forest University School of Medicine, Winston-Salem, NC, USA Zhong Wang, Data Coordinating Center for the ICPCG, Wake Forest University School of Medicine, Winston-Salem, NC, USA Stephen N. Thibodeau, Mayo Clinic ICPGC Group, Mayo Clinic, Rochester, MN, USA Lisa A. Cannon-Albright, University of Utah ICPCG Group, University of Utah School of Medicine, Salt Lake City, UT, USA Craig C. Teerlink, University of Utah ICPCG Group, University of Utah School of Medicine, Salt Lake City, UT, USA Nicola J. Camp, University of Utah ICPCG Group, University of Utah School of Medicine, Salt Lake City, UT, USA Anna M. Johnson, University of Michigan ICPCG Group, University of Michigan Medical School, Ann Arbor, MI, USA Kimberly A. Zuhlke, University of Michigan ICPCG Group, University of Michigan Medical School, Ann Arbor, MI, USA Janet L. Stanford, Fred Hutchinson Cancer Research Center (FHCRC) ICPCG Group, Seattle, WA, USA Elaine A. Ostrander, Fred Hutchinson Cancer Research Center (FHCRC) ICPCG Group, Seattle, WA, USA Kathleen E. Wiley, Johns Hopkins University ICPCG Group, Baltimore, MD, USA Sarah D. Isaacs, Johns Hopkins University ICPCG Group, Baltimore, MD, USA Patrick C. Walsh, Johns Hopkins University ICPCG Group, Baltimore, MD, USA Christiane Maier, University of Ulm ICPCG Group, University of Ulm, Ulm, Germany Manuel Luedeke, University of Ulm ICPCG Group, University of Ulm, Ulm, Germany Walther Vogel, University of Ulm ICPCG Group, University of Ulm, Ulm, Germany Johanna Schleutker, University of Tampere ICPCG Group, University of Tampere and Fimlab Laboratories, Tampere, Finland Tiina Wahlfors, University of Tampere ICPCG Group, University of Tampere and Fimlab Laboratories, Tampere, Finland Teuvo Tammela, University of Tampere ICPCG Group, University of Tampere and Fimlab Laboratories, Tampere, Finland Daniel Schaid, Mayo Clinic ICPGC Group, Mayo Clinic, Rochester, MN, USA Shannon K. McDonnell, Mayo Clinic ICPGC Group, Mayo Clinic, Rochester, MN, USA Melissa S. DeRycke, Mayo Clinic ICPGC Group, Mayo Clinic, Rochester, MN, USA Geraldine Cancel-Tassin, CeRePP ICPCG Group, Paris, France Olivier Cussenot, CeRePP ICPCG Group, Paris, France Fredrik Wiklund, Karolinska ICPCG Group, Karolinska Institutet, Stockholm, Sweden Henrik Grönberg, Karolinska ICPCG Group, Karolinska Institutet, Stockholm, Sweden Ros Eeles, ACTANE (Anglo/Canadian/Texan/Australian/Norwegian/EU Biomed) Consortium ICPCG Group, Surrey, UK Doug Easton, ACTANE (Anglo/Canadian/Texan/Australian/Norwegian/EU Biomed) Consortium ICPCG Group, Surrey, UK Zsofia Kote-Jarai, ACTANE (Anglo/Canadian/Texan/Australian/Norwegian/EU Biomed) Consortium ICPCG Group, Surrey, UK Alice S. Whittemore, BC/CA/HI ICPCG Group, Stanford School of Medicine, Stanford, CA, USA Chih-Lin Hsieh, BC/CA/HI ICPCG Group, Stanford School of Medicine, Stanford, CA, USA Graham G. Giles, ACTANE (Anglo/Canadian/Texan/Australian/Norwegian/EU Biomed) Consortium ICPCG Group, Surrey, UK John L. Hopper, ACTANE (Anglo/Canadian/Texan/Australian/Norwegian/EU Biomed) Consortium ICPCG Group, Surrey, UK Gianluca Severi, ACTANE (Anglo/Canadian/Texan/Australian/Norwegian/EU Biomed) Consortium ICPCG Group, Surrey, UK William J. Catalona, Northwestern University ICPCG Group, Chicago, IL, USA Diptasri Mandal, Louisiana State University ICPCG Group, New Orleans, LA, USA Elisa Ledet, Louisiana State University ICPCG Group, New Orleans, LA, USA William D. Foulkes, ACTANE (Anglo/Canadian/Texan/Australian/Norwegian/EU Biomed) Consortium ICPCG Group, Surrey, UK Nancy Hamel, ACTANE (Anglo/Canadian/Texan/Australian/Norwegian/EU Biomed) Consortium ICPCG Group, Surrey, UK Lovise Mahle, ACTANE (Anglo/Canadian/Texan/Australian/Norwegian/EU Biomed) Consortium ICPCG Group, Surrey, UK Pal Moller, ACTANE (Anglo/Canadian/Texan/Australian/Norwegian/EU Biomed) Consortium ICPCG Group, Surrey, UK Isaac Powell, African American Hereditary Prostate Cancer ICPCG Group, Detroit, MI, USA Joan E. Bailey-Wilson, African American Hereditary Prostate Cancer ICPCG Group, Detroit, MI, USA John D. Carpten, African American Hereditary Prostate Cancer ICPCG Group, Detroit, MI, USA Daniela Seminara, National Cancer Institute, NIH, Bethesda, MD, USA Kathleen A. Cooney, University of Michigan ICPCG Group, University of Michigan Medical School, Ann Arbor, MI, USA William B. Isaacs, Johns Hopkins University ICPCG Group, Baltimore, MD, USA International Consortium for Prostate Cancer Genetics Journal Human Genetics Online ISSN 1432-1203 Print ISSN 0340-6717
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  • 10
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    Publication Date: 2012-10-13
    Description:    Adherents to the Jewish faith have resided in numerous geographic locations over the course of three millennia. Progressively more detailed population genetic analysis carried out independently by multiple research groups over the past two decades has revealed a pattern for the population genetic architecture of contemporary Jews descendant from globally dispersed Diaspora communities. This pattern is consistent with a major, but variable component of shared Near East ancestry, together with variable degrees of admixture and introgression from the corresponding host Diaspora populations. By combining analysis of monoallelic markers with recent genome-wide variation analysis of simple tandem repeats, copy number variations, and single-nucleotide polymorphisms at high density, it has been possible to determine the relative contribution of sex-specific migration and introgression to map founder events and to suggest demographic histories corresponding to western and eastern Diaspora migrations, as well as subsequent microevolutionary events. These patterns have been congruous with the inferences of many, but not of all historians using more traditional tools such as archeology, archival records, linguistics, comparative analysis of religious narrative, liturgy and practices. Importantly, the population genetic architecture of Jews helps to explain the observed patterns of health and disease-relevant mutations and phenotypes which continue to be carefully studied and catalogued, and represent an important resource for human medical genetics research. The current review attempts to provide a succinct update of the more recent developments in a historical and human health context. Content Type Journal Article Category Review Article Pages 1-9 DOI 10.1007/s00439-012-1235-6 Authors Harry Ostrer, Departments of Pathology and Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA Karl Skorecki, Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Rambam Health Care Campus, 8 Ha’Aliyah Street, 31096 Haifa, Israel Journal Human Genetics Online ISSN 1432-1203 Print ISSN 0340-6717
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