Journal article

A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis

Clare C Constantine, Greg J Anderson, Chris D Vulpe, Christine E McLaren, Melanie Bahlo, Heng Lin Yeap, Dorota M Gertig, Nicholas J Osborne, Nadine A Bertalli, Kenneth B Beckman, Victoria Chen, Pavel Matak, Andrew T McKie, Martin B Delatycki, John K Olynyk, Dallas R English, Melissa C Southey, Graham G Giles, John L Hopper, Katrina J Allen Show all

BRITISH JOURNAL OF HAEMATOLOGY | WILEY | Published : 2009

Abstract

There is emerging evidence that there are genetic modifiers of iron indices for HFE gene mutation carriers at risk of hereditary hemochromatosis. A random sample, stratified by HFE genotype, of 863 from a cohort of 31 192 people of northern European descent provided blood samples for genotyping of 476 single nucleotide polymorphisms (SNPs) in 44 genes involved in iron metabolism. Single SNP association testing, using linear regression models adjusted for sex, menopause and HFE genotype, was conducted for four continuously distributed outcomes: serum ferritin (log transformed), transferrin saturation, serum transferrin, and serum iron. The SNP rs884409 in CYBRD1 is a novel modifier specific t..

View full abstract

Grants

Awarded by National Institutes of Health


Awarded by NHMRC


Awarded by NATIONAL CANCER INSTITUTE


Awarded by NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES


Funding Acknowledgements

Supported by grant 1-RO1-DK061885-01A2 from the National Institutes of Health, and NHMRC project grants 251668 and 509174. The authors express their gratitude to the hundreds of Melbourne residents who participated in the HealthIron study.