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Vitamin D receptor (VDR) gene polymorphism and osteoporosis risk in White British men

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journal contribution
posted on 16.09.2019, 10:53 authored by Melissa Kow, Liz AkamLiz Akam, Puneetpal Singh, Monica Singh, Nick CoxNick Cox, Jasvinder Singh Bhatti, Stephen P Tuck, Roger M Francis, Harish Datta, Sarabjit MastanaSarabjit Mastana
In this study, VDR gene ApaI (rs7975232), BsmI (rs 1544410) and TaqI (rs731236) genotypes were compared in men with osteoporosis and male controls. Osteoporosis affects around 20% of all men and overall mortality in the first year after hip fracture is significantly higher in men than women, yet the genetic basis of osteoporosis is less well studied in males. This study consisted of White British males; 69 osteoporosis patients and 122 controls. BMDs at the lumbar spine (vertebrae L1-L4) and hip (femur neck) were measured by dual-energy X-ray absorptiometry (DEXA). The VDR gene ApaI, BsmI and TaqI genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and association analysis was carried out at genotype and haplotype level. Our study suggests that TaqI polymorphism CC genotype frequency is lower in controls and further analysis of genotypes and BMD revealed a significant effect of TaqI polymorphism on Lumbar spine BMD. Two haplotypes (GCC and AAT) were associated with increased osteoporosis risk. In conclusion, VDR gene TaqI polymorphism in recessive mode had a significant effect on lumbar spine BMD within our study. Haplotypes GCC and AAT increase the risk of osteoporosis among White British males.

History

School

  • Sport, Exercise and Health Sciences

Published in

Annals of Human Biology

Volume

46

Issue

5

Pages

430 - 433

Publisher

Taylor & Francis

Version

AM (Accepted Manuscript)

Rights holder

© Informa UK Limited, trading as Taylor & Francis Group

Publisher statement

This is an Accepted Manuscript of an article published by Taylor & Francis in Annals of Human Biology on 11 September 2019, available online: http://www.tandfonline.com/10.1080/03014460.2019.1659851.

Acceptance date

15/08/2019

Publication date

2019-09-11

Copyright date

2019

ISSN

0301-4460

eISSN

1464-5033

Language

en

Depositor

Dr Sarabjit Mastana