ESPEYB15 5 Bone, Growth Plate and Mineral Metabolism Life-long skeletal consequences of delayed puberty (1 abstracts)
5.9 Genetically Determined Later Puberty Impacts Lowered Bone Mineral Density in Childhood and Adulthood
Cousminer DL , Mitchell JA , Chesi A , Roy SM , Kalkwarf HJ , Lappe JM , Gilsanz V , Oberfield SE , Shepherd JA , Kelly A , McCormack SE , Voight BF , Zemel BS & Grant SF
Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
To read the full abstract: J Bone Miner Res 2018;33:430-436
Bone mass increases dramatically during puberty. The process of sexual maturation is therefore likely to impact lifelong bone health. Bone mineral density (BMD) tracks throughout life and later age at menarche is associated with increased osteoporosis risk in women, possibly because of combined effects of later menarche and lower peak bone mass in young adulthood. Genome-wide association studies have identified 380 variants associating with pubertal timing (1). Recent studies have found that pubertal timing and adult aBMD share a common genetic etiology (2).
Here, the authors aimed to determine if there is an association between genetic loci implicated in timing of puberty, both individually and as polygenic risk scores (GRS) representing the “genetic load” of puberty-delaying variants, and aBMD at multiple skeletal sites in healthy children. The researchers used data from the Bone Mineral Density in Childhood Study (BMDCS), including bone and growth measurements during annual visits for up to seven years in over 2,000 healthy children, adolescents and young adults during 2002 to 2010. The study findings show that a genetic risk for later puberty is associated with lower lumbar spine aBMD. This association was stronger in girls in childhood but was evident in adulthood in both sexes. Similarly, the study findings gave some evidence that genetically determined later puberty associated also with lower femoral neck aBMD. During adolescence pubertal maturation and bone acquisition develop in parallel and the relationship between genetic variation, timing of puberty and BMD is likely to be complex. The molecular and functional mechanisms linking these processes should be elucidated in future studies to gain insight into potential means to optimize bone health across these critical periods.
1. Day FR, Thompson DJ, Helgason H, Chasman DI, Finucane H, Sulem P, et al. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nat Genet. 2017;49(6):834-841.
2. Day FR, Bulik-Sullivan B, Hinds DA, Finucane HK, Murabito JM, Tung JY, Ong KK, Perry JR. Shared genetic aetiology of puberty timing between sexes and with health-related outcomes. Nat Commun. 2015;6:8842.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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