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Genetic Variants Associated with Circulating Parathyroid Hormone.

Artikel i vetenskaplig tidskrift
Författare Cassianne Robinson-Cohen
Pamela L Lutsey
Marcus E Kleber
Carrie M Nielson
Braxton D Mitchell
Joshua C Bis
Karen M Eny
Laura Portas
Joel Eriksson
Mattias Lorentzon
Daniel L Koller
Yuri Milaneschi
Alexander Teumer
Stefan Pilz
Maria Nethander
Elizabeth Selvin
Weihong Tang
Lu-Chen Weng
Hoi Suen Wong
Dongbing Lai
Munro Peacock
Anke Hannemann
Uwe Völker
Georg Homuth
Matthias Nauk
Federico Murgia
Jack W Pattee
Eric Orwoll
Joseph M Zmuda
Jose Antonio Riancho
Myles Wolf
Frances Williams
Brenda Penninx
Michael J Econs
Kathleen A Ryan
Claes Ohlsson
Andrew D Paterson
Bruce M Psaty
David S Siscovick
Jerome I Rotter
Mario Pirastu
Elizabeth Streeten
Winfried März
Caroline Fox
Josef Coresh
Henri Wallaschofski
James S Pankow
Ian H de Boer
Bryan Kestenbaum
Publicerad i Journal of the American Society of Nephrology : JASN
Volym 28
Nummer/häfte 5
Sidor 1553-1565
ISSN 1533-3450
Publiceringsår 2017
Publicerad vid Core Facilities, Bioinformatics
Centre for Bone and Arthritis Research
Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition
Sidor 1553-1565
Språk en
Länkar dx.doi.org/10.1681/ASN.2016010069
www.ncbi.nlm.nih.gov/entrez/query.f...
Ämneskategorier Endokrinologi

Sammanfattning

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.

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