Sökning: onr:"swepub:oai:gup.ub.gu.se/247991" > Genetic Variants As...
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000 | 05671naa a2200841 4500 | |
001 | oai:gup.ub.gu.se/247991 | |
003 | SwePub | |
008 | 240528s2017 | |||||||||||000 ||eng| | |
024 | 7 | a https://gup.ub.gu.se/publication/2479912 URI |
024 | 7 | a https://doi.org/10.1681/ASN.20160100692 DOI |
040 | a (SwePub)gu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Robinson-Cohen, Cassianne4 aut |
245 | 1 0 | a Genetic Variants Associated with Circulating Parathyroid Hormone. |
264 | 1 | c 2017 |
520 | a Parathyroid hormone (PTH) is a primary calcium regulatory hormone. Elevated serum PTH concentrations in primary and secondary hyperparathyroidism have been associated with bone disease, hypertension, and in some studies, cardiovascular mortality. Genetic causes of variation in circulating PTH concentrations are incompletely understood. We performed a genome-wide association study of serum PTH concentrations among 29,155 participants of European ancestry from 13 cohort studies (n=22,653 and n=6502 in discovery and replication analyses, respectively). We evaluated the association of single nucleotide polymorphisms (SNPs) with natural log-transformed PTH concentration adjusted for age, sex, season, study site, and principal components of ancestry. We discovered associations of SNPs from five independent regions with serum PTH concentration, including the strongest association with rs6127099 upstream of CYP24A1 (P=4.2 × 10(-53)), a gene that encodes the primary catabolic enzyme for 1,25-dihydroxyvitamin D and 25-dihydroxyvitamin D. Each additional copy of the minor allele at this SNP associated with 7% higher serum PTH concentration. The other SNPs associated with serum PTH concentration included rs4074995 within RGS14 (P=6.6 × 10(-17)), rs219779 adjacent to CLDN14 (P=3.5 × 10(-16)), rs4443100 near RTDR1 (P=8.7 × 10(-9)), and rs73186030 near CASR (P=4.8 × 10(-8)). Of these five SNPs, rs6127099, rs4074995, and rs219779 replicated. Thus, common genetic variants located near genes involved in vitamin D metabolism and calcium and renal phosphate transport associated with differences in circulating PTH concentrations. Future studies could identify the causal variants at these loci, and the clinical and functional relevance of these variants should be pursued. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng |
700 | 1 | a Lutsey, Pamela L4 aut |
700 | 1 | a Kleber, Marcus E4 aut |
700 | 1 | a Nielson, Carrie M4 aut |
700 | 1 | a Mitchell, Braxton D4 aut |
700 | 1 | a Bis, Joshua C4 aut |
700 | 1 | a Eny, Karen M4 aut |
700 | 1 | a Portas, Laura4 aut |
700 | 1 | a Eriksson, Joelu Gothenburg University,Göteborgs universitet,Centre for Bone and Arthritis Research,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition4 aut0 (Swepub:gu)xerjoe |
700 | 1 | a Lorentzon, Mattias,d 1970u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Centre for Bone and Arthritis Research,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition4 aut0 (Swepub:gu)xlomat |
700 | 1 | a Koller, Daniel L4 aut |
700 | 1 | a Milaneschi, Yuri4 aut |
700 | 1 | a Teumer, Alexander4 aut |
700 | 1 | a Pilz, Stefan4 aut |
700 | 1 | a Nethander, Maria,d 1980u Gothenburg University,Göteborgs universitet,Core Facilities, Bioinformatics,Centre for Bone and Arthritis Research,Core Facilities, Bioinformatics4 aut0 (Swepub:gu)xnetma |
700 | 1 | a Selvin, Elizabeth4 aut |
700 | 1 | a Tang, Weihong4 aut |
700 | 1 | a Weng, Lu-Chen4 aut |
700 | 1 | a Wong, Hoi Suen4 aut |
700 | 1 | a Lai, Dongbing4 aut |
700 | 1 | a Peacock, Munro4 aut |
700 | 1 | a Hannemann, Anke4 aut |
700 | 1 | a Völker, Uwe4 aut |
700 | 1 | a Homuth, Georg4 aut |
700 | 1 | a Nauk, Matthias4 aut |
700 | 1 | a Murgia, Federico4 aut |
700 | 1 | a Pattee, Jack W4 aut |
700 | 1 | a Orwoll, Eric4 aut |
700 | 1 | a Zmuda, Joseph M4 aut |
700 | 1 | a Riancho, Jose Antonio4 aut |
700 | 1 | a Wolf, Myles4 aut |
700 | 1 | a Williams, Frances4 aut |
700 | 1 | a Penninx, Brenda4 aut |
700 | 1 | a Econs, Michael J4 aut |
700 | 1 | a Ryan, Kathleen A4 aut |
700 | 1 | a Ohlsson, Claes,d 1965u Gothenburg University,Göteborgs universitet,Centre for Bone and Arthritis Research,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition4 aut0 (Swepub:gu)xohlcl |
700 | 1 | a Paterson, Andrew D4 aut |
700 | 1 | a Psaty, Bruce M4 aut |
700 | 1 | a Siscovick, David S4 aut |
700 | 1 | a Rotter, Jerome I4 aut |
700 | 1 | a Pirastu, Mario4 aut |
700 | 1 | a Streeten, Elizabeth4 aut |
700 | 1 | a März, Winfried4 aut |
700 | 1 | a Fox, Caroline4 aut |
700 | 1 | a Coresh, Josef4 aut |
700 | 1 | a Wallaschofski, Henri4 aut |
700 | 1 | a Pankow, James S4 aut |
700 | 1 | a de Boer, Ian H4 aut |
700 | 1 | a Kestenbaum, Bryan4 aut |
710 | 2 | a Göteborgs universitetb Centre for Bone and Arthritis Research4 org |
773 | 0 | t Journal of the American Society of Nephrology : JASNg 28:5, s. 1553-1565q 28:5<1553-1565x 1533-3450 |
856 | 4 8 | u https://gup.ub.gu.se/publication/247991 |
856 | 4 8 | u https://doi.org/10.1681/ASN.2016010069 |
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