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Interaction between birthweight and polymorphism in the calcium-sensing receptor gene in determination of adult bone mass: the Hertfordshire cohort study

Lips, Mirjam A., Syddall, Holly E., Gaunt, Tom R., Rodriguez, Santiago, Day, Ian N.M., Cooper, Cyrus, Dennison, Elaine M. and Southampton Genetic Epidemology Research Group, None (2007) Interaction between birthweight and polymorphism in the calcium-sensing receptor gene in determination of adult bone mass: the Hertfordshire cohort study The Journal of Rheumatology, 34, (4), pp. 769-775.

Record type: Article


OBJECTIVE: We sought evidence of interaction between single-nucleotide polymorphisms (SNP) in the calcium-sensing receptor (CASR) gene and early life in determination of bone mineral density (BMD) among individuals from the Hertfordshire Cohort Study. METHODS: Four hundred ninety-eight men and 468 women aged 59-71 years were recruited. A lifestyle questionnaire was administered and BMD at lumbar spine and femoral neck was measured. DNA was obtained from whole blood samples using standard extraction techniques. Five SNP of the CASR gene termed CASRV1 (rs1801725, G-->T, S986A), CASRV2 (rs7614486, T-->G, untranslated), CASRV3 (rs4300957, untranslated), CASRV4 (rs3804592 G-->A, intron), and CASRV5 (rs1393189, T-->C, intron) were analyzed. RESULTS: Among women the 11 genotype of the CASRV3 SNP was associated with higher lumbar spine BMD within the lowest birthweight tertile, while the opposite pattern was observed among individuals in the highest birthweight tertile (test for interaction on 1 df, p = 0.005, adjusted for age, body mass index, physical activity, dietary calcium intake, cigarette and alcohol consumption, social class, menopausal status, and hormone replacement therapy use). Similar relationships were seen at the total femur (p = 0.042, fully adjusted) with birthweight and at the total femur according to weight at 1 year tertile among women (p < 0.001, fully adjusted). One haplotype was associated with lumbar spine BMD in women (p = 0.008, fully adjusted); these findings were replicated in a second cohort. CONCLUSION: We have found evidence of an interaction between a SNP of the CASR gene and birthweight in determination of bone mass in a UK female population.

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Published date: April 2007
Keywords: femur, early-life, weight, cohort studies, bone mass, social class, bone, methods, activity, cohort, aged, women, calcium, blood, gene, neck, body mass index, female, adult, dna, genotype, alcohol, therapy, hertfordshire
Organisations: Human Genetics, Dev Origins of Health & Disease


Local EPrints ID: 61335
ISSN: 0315-162X
PURE UUID: 2b53a1f9-398f-4e17-9ae3-00b13d2992fc

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Date deposited: 01 Oct 2008
Last modified: 17 Jul 2017 14:22

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Author: Mirjam A. Lips
Author: Holly E. Syddall
Author: Tom R. Gaunt
Author: Santiago Rodriguez
Author: Ian N.M. Day
Author: Cyrus Cooper
Author: Elaine M. Dennison
Author: None Southampton Genetic Epidemology Research Group

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