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- Title
Genome-wide meta-analysis identifies novel loci associated with parathyroid hormone level.
- Authors
Matana, Antonela; Brdar, Dubravka; Torlak, Vesela; Boutin, Thibaud; Popović, Marijana; Gunjača, Ivana; Kolčić, Ivana; Boraska Perica, Vesna; Punda, Ante; Polašek, Ozren; Barbalić, Maja; Hayward, Caroline; Zemunik, Tatijana
- Abstract
Background: Parathyroid hormone (PTH) is one of the principal regulators of calcium homeostasis. Although serum PTH level is mostly accounted by genetic factors, genetic background underlying PTH level is insufficiently known<italic>.</italic> Therefore, the aim of this study was to identify novel genetic variants associated with PTH levels. Methods: We performed GWAS meta-analysis within two genetically isolated Croatian populations followed by replication analysis in a Croatian mainland population and we also combined results across all three analyzed populations. The analyses included 2596 individuals. A total of 7,411,206 variants, imputed using the 1000 Genomes reference panel, were analysed for the association. In addition, a sex-specific GWAS meta-analyses were performed. Results: Polymorphisms with the lowest <italic>P</italic>-values were located on chromosome 4 approximately 84 kb of the 5′ of <italic>RASGEF1B</italic> gene. The most significant SNP was rs11099476 (<italic>P</italic> = 1.15 × 10−8). Sex-specific analysis identified genome-wide significant association of the variant rs77178854, located within <italic>DPP10</italic> gene in females only (<italic>P</italic> = 2.21 × 10− 9). There were no genome-wide significant findings in the meta-analysis of males. Conclusions: We identified two biologically plausible novel loci associated with PTH levels, providing us with further insights into the genetics of this complex trait.
- Subjects
PARATHYROID hormone; LOCUS (Genetics); HOMEOSTASIS; CALCIUM in the body; SINGLE nucleotide polymorphisms
- Publication
Molecular Medicine, 2018, Vol 24, Issue 1, pN.PAG
- ISSN
1076-1551
- Publication type
Article
- DOI
10.1186/s10020-018-0018-5