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      Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan

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          Abstract

          Human height can be described as a classical and inherited trait model. Genome-wide association studies (GWAS) have revealed susceptible loci and provided insights into the polygenic nature of human height. Familial short stature (FSS) represents a suitable trait for investigating short stature genetics because disease associations with short stature have been ruled out in this case. In addition, FSS is caused only by genetically inherited factors. In this study, we explored the correlations of FSS risk with the genetic loci associated with human height in previous GWAS, alone and cumulatively. We systematically evaluated 34 known human height single nucleotide polymorphisms (SNPs) in relation to FSS in the additive model ( p < 0.00005). A cumulative effect was observed: the odds ratios gradually increased with increasing genetic risk score quartiles ( p < 0.001; Cochran-Armitage trend test). Six affected genes— ZBTB38, ZNF638, LCORL, CABLES1, CDK10, and TSEN15—are located in the nucleus and have been implicated in embryonic, organismal, and tissue development. In conclusion, our study suggests that 13 human height GWAS-identified SNPs are associated with FSS risk both alone and cumulatively.

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          Genomewide association analysis of coronary artery disease.

          Modern genotyping platforms permit a systematic search for inherited components of complex diseases. We performed a joint analysis of two genomewide association studies of coronary artery disease. We first identified chromosomal loci that were strongly associated with coronary artery disease in the Wellcome Trust Case Control Consortium (WTCCC) study (which involved 1926 case subjects with coronary artery disease and 2938 controls) and looked for replication in the German MI [Myocardial Infarction] Family Study (which involved 875 case subjects with myocardial infarction and 1644 controls). Data on other single-nucleotide polymorphisms (SNPs) that were significantly associated with coronary artery disease in either study (P 80%) of a true association: chromosomes 1p13.3 (rs599839), 1q41 (rs17465637), 10q11.21 (rs501120), and 15q22.33 (rs17228212). We identified several genetic loci that, individually and in aggregate, substantially affect the risk of development of coronary artery disease. Copyright 2007 Massachusetts Medical Society.
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            TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

            Rheumatoid arthritis has a complex mode of inheritance. Although HLA-DRB1 and PTPN22 are well-established susceptibility loci, other genes that confer a modest level of risk have been identified recently. We carried out a genomewide association analysis to identify additional genetic loci associated with an increased risk of rheumatoid arthritis. We genotyped 317,503 single-nucleotide polymorphisms (SNPs) in a combined case-control study of 1522 case subjects with rheumatoid arthritis and 1850 matched control subjects. The patients were seropositive for autoantibodies against cyclic citrullinated peptide (CCP). We obtained samples from two data sets, the North American Rheumatoid Arthritis Consortium (NARAC) and the Swedish Epidemiological Investigation of Rheumatoid Arthritis (EIRA). Results from NARAC and EIRA for 297,086 SNPs that passed quality-control filters were combined with the use of Cochran-Mantel-Haenszel stratified analysis. SNPs showing a significant association with disease (P<1x10(-8)) were genotyped in an independent set of case subjects with anti-CCP-positive rheumatoid arthritis (485 from NARAC and 512 from EIRA) and in control subjects (1282 from NARAC and 495 from EIRA). We observed associations between disease and variants in the major-histocompatibility-complex locus, in PTPN22, and in a SNP (rs3761847) on chromosome 9 for all samples tested, the latter with an odds ratio of 1.32 (95% confidence interval, 1.23 to 1.42; P=4x10(-14)). The SNP is in linkage disequilibrium with two genes relevant to chronic inflammation: TRAF1 (encoding tumor necrosis factor receptor-associated factor 1) and C5 (encoding complement component 5). A common genetic variant at the TRAF1-C5 locus on chromosome 9 is associated with an increased risk of anti-CCP-positive rheumatoid arthritis. Copyright 2007 Massachusetts Medical Society.
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              Many sequence variants affecting diversity of adult human height.

              Adult human height is one of the classical complex human traits. We searched for sequence variants that affect height by scanning the genomes of 25,174 Icelanders, 2,876 Dutch, 1,770 European Americans and 1,148 African Americans. We then combined these results with previously published results from the Diabetes Genetics Initiative on 3,024 Scandinavians and tested a selected subset of SNPs in 5,517 Danes. We identified 27 regions of the genome with one or more sequence variants showing significant association with height. The estimated effects per allele of these variants ranged between 0.3 and 0.6 cm and, taken together, they explain around 3.7% of the population variation in height. The genes neighboring the identified loci cluster in biological processes related to skeletal development and mitosis. Association to three previously reported loci are replicated in our analyses, and the strongest association was with SNPs in the ZBTB38 gene.
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                Author and article information

                Contributors
                d0704@mail.cmuh.org.tw
                Journal
                Sci Rep
                Sci Rep
                Scientific Reports
                Nature Publishing Group UK (London )
                2045-2322
                25 July 2017
                25 July 2017
                2017
                : 7
                : 6372
                Affiliations
                [1 ]ISNI 0000 0004 0572 9415, GRID grid.411508.9, Genetic Center, Department of Medical Research, , China Medical University Hospital, ; Taichung, Taiwan
                [2 ]ISNI 0000 0001 0083 6092, GRID grid.254145.3, School of Chinese Medicine, , China Medical University, ; Taichung, Taiwan
                [3 ]ISNI 0000 0001 0083 6092, GRID grid.254145.3, Graduate Institute of Integrated Medicine, , China Medical University, ; Taichung, Taiwan
                [4 ]ISNI 0000 0004 0572 9415, GRID grid.411508.9, Center for Personalized Medicine, , China Medical University Hospital, ; Taichung, Taiwan
                [5 ]ISNI 0000 0001 0083 6092, GRID grid.254145.3, , Children’s Hospital of China Medical University, ; Taichung, Taiwan
                [6 ]ISNI 0000 0004 0572 899X, GRID grid.414692.c, Department of Pediatrics, , Buddhist Tzu Chi General Hospital, ; Taipei Branch, Taipei Taiwan
                [7 ]ISNI 0000 0001 0083 6092, GRID grid.254145.3, Graduate Institute of Biomedical Sciences, , China Medical University, ; Taichung, Taiwan
                [8 ]ISNI 0000 0001 2287 1366, GRID grid.28665.3f, Institute of Biomedical Sciences, , Academia Sinica, ; Taipei, Taiwan
                [9 ]ISNI 0000 0001 0083 6092, GRID grid.254145.3, Graduate Institute of Biostatistics, , School of Public Health, China Medical University, ; Taichung, Taiwan
                [10 ]ISNI 0000 0000 9337 0481, GRID grid.412896.0, Biostatistics Center and School of Public Health, , Taipei Medical University, ; Taipei, Taiwan
                [11 ]GRID grid.462649.b, National Applied Research Laboratories, , National Center for High-performance Computing, ; Hsinchu, Taiwan
                [12 ]ISNI 0000 0000 9263 9645, GRID grid.252470.6, Department of Biotechnology and Bioinformatics, , Asia University, ; Taichung, Taiwan
                Article
                6766
                10.1038/s41598-017-06766-z
                5527114
                28744006
                887cb10a-080e-4fb5-a19a-c5b97c38b571
                © The Author(s) 2017

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

                History
                : 8 November 2016
                : 19 June 2017
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