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Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene
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نویسنده
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kapur k. ,johnson t. ,beckmann n.d. ,sehmi j. ,tanaka t. ,kutalik z. ,styrkarsdottir u. ,zhang w. ,marek d. ,gudbjartsson d.f. ,milaneschi y. ,holm h. ,diiorio a. ,waterworth d. ,li y. ,singleton a.b. ,bjornsdottir u.s. ,sigurdsson g. ,hernandez d.g. ,de silva r. ,elliott p. ,eyjolfsson g.i. ,guralnik j.m. ,scott j. ,thorsteinsdottir u. ,bandinelli s. ,chambers j. ,stefansson k. ,waeber g. ,ferrucci l. ,kooner j.s. ,mooser v. ,vollenweider p. ,beckmann j.s. ,bochud m. ,bergmann s.
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منبع
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plos genetics - 2010 - دوره : 6 - شماره : 7 - صفحه:1 -12
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چکیده
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Calcium has a pivotal role in biological functions,and serum calcium levels have been associated with numerous disorders of bone and mineral metabolism,as well as with cardiovascular mortality. here we report results from a genome-wide association study of serum calcium,integrating data from four independent cohorts including a total of 12,865 individuals of european and indian asian descent. our meta-analysis shows that serum calcium is associated with snps in or near the calcium-sensing receptor (casr) gene on 3q13. the top hit with a p-value of 6.3×10-37 is rs1801725,a missense variant,explaining 1.26% of the variance in serum calcium. this snp had the strongest association in individuals of european descent,while for individuals of indian asian descent the top hit was rs17251221 (p = 1.1×10-21),a snp in strong linkage disequilibrium with rs1801725. the strongest locus in casr was shown to replicate in an independent icelandic cohort of 4,126 individuals (p = 1.02×10-4). this genome-wide meta-analysis shows that common casr variants modulate serum calcium levels in the adult general population,which confirms previous results in some candidate gene studies of the casr locus. this study highlights the key role of casr in calcium regulation.
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آدرس
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department of medical genetics,university of lausanne,lausanne,switzerland,swiss institute of bioinformatics,lausanne, Switzerland, department of medical genetics,university of lausanne,lausanne,switzerland,swiss institute of bioinformatics,lausanne,switzerland,institute of social and preventive medicine,centre hospitalier universitaire vaudois,university of lausanne,lausanne, Switzerland, department of medical genetics,university of lausanne,lausanne, Switzerland, national heart and lung institute,imperial college london,london, United Kingdom, clinical research branch,national institute on aging,baltimore,md, United States, department of medical genetics,university of lausanne,lausanne,switzerland,swiss institute of bioinformatics,lausanne, Switzerland, decode genetics,reykjavik, Iceland, department of epidemiology and public health,imperial college london,london, United Kingdom, department of medical genetics,university of lausanne,lausanne,switzerland,swiss institute of bioinformatics,lausanne, Switzerland, decode genetics,reykjavik, Iceland, clinical research branch,national institute on aging,baltimore,md, United States, decode genetics,reykjavik, Iceland, department of medicine and sciences of aging,laboratory of clinical epidemiology,university g. d'annunzio,chieti, Italy, division of genetics,glaxosmithkline,king of prussia,pa, United States, department of genetics,department of biostatistics,university of north carolina,chapel hill,nc, United States, laboratory of neurogenetics,national institute on aging,bethesda,md, United States, the laboratory in mjodd,ram,reykjavik, Iceland, faculty of medicine,university of iceland,reykjavik,iceland,department of endocrinology and metabolism,university hospital,reykjavik, Iceland, laboratory of neurogenetics,national institute on aging,bethesda,md, United States, national heart and lung institute,imperial college london,london, United Kingdom, department of epidemiology and biostatistics,medical research council-health protection agency centre for environment and health,imperial college london,london, United Kingdom, the laboratory in mjodd,ram,reykjavik, Iceland, laboratory of epidemiology,demography,and biometry,national institute on aging,bethesda,md, United States, national heart and lung institute,imperial college london,london, United Kingdom, decode genetics,reykjavik,iceland,faculty of medicine,university of iceland,reykjavik, Iceland, geriatric unit,azienda sanitaria firenze,florence, Italy, department of epidemiology and public health,imperial college london,london, United Kingdom, decode genetics,reykjavik,iceland,faculty of medicine,university of iceland,reykjavik, Iceland, department of medicine,centre hospitalier universitaire vaudois,lausanne, Switzerland, clinical research branch,national institute on aging,baltimore,md, United States, national heart and lung institute,imperial college london,london, United Kingdom, division of genetics,glaxosmithkline,king of prussia,pa, United States, department of medicine,centre hospitalier universitaire vaudois,lausanne, Switzerland, department of medical genetics,university of lausanne,lausanne,switzerland,service of medical genetics,centre hospitalier universitaire vaudois,lausanne, Switzerland, institute of social and preventive medicine,centre hospitalier universitaire vaudois,university of lausanne,lausanne, Switzerland, department of medical genetics,university of lausanne,lausanne,switzerland,swiss institute of bioinformatics,lausanne, Switzerland
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Authors
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