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Mortality and cancer incidence in males with Y polysomy in Britain: a cohort study

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Abstract

The mortality and cancer incidence risks among males with Y polysomy are unknown because there have been no large long-term cohort studies carried out of such men. We conducted a cohort study of 667 men diagnosed with the abnormality in Britain since 1959 to compare their mortality and cancer incidence rates with those of the general population. Sixty deaths occurred during follow-up to December 2005, twice the number expected from general population rates (standardised mortality ratio (SMR) = 2.0 (95% confidence interval (CI) 1.5–2.6)). Significantly raised mortality was observed for diseases of the nervous system (SMR = 7.0, 95% CI: 2.3–16.4), circulatory system (SMR = 2.1, 95% CI: 1.3–3.2), respiratory system (SMR = 4.0, 95% CI: 1.8–7.5), genitourinary system (SMR = 10.2, 95% CI: 1.2–36.9), and congenital anomalies (SMR = 11.9, 95% CI: 3.2–30.5). Four of the five nervous system deaths were from epilepsy, the risk of death from this condition being more than 20-fold raised. The rates of cancer incidence and mortality among these men was not significantly different from those in the general population. This study provides evidence that mortality rates from several specific causes are raised among men with Y polysomy. The use of these data in genetic counselling should be cautious particularly for cases of Y polysomy that are detected prenatally. Further investigations are required to confirm these findings and to elucidate the possible role of genes on the Y chromosome in the aetiology of these causes of death.

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Acknowledgments

We thank the Medical Research Council for funding, D. Allen, F. Barber, C. Maguire, P. Murnaghan, M. Pelerin and, M. Swanwick for assistance in data collection; E. Boyd, D. Couzin, J. Delhanty, P. Ellis, M. Faed, J. Fennell, A. Kessling, A. McDermott, A. Parkin, A. Potter, and D. Ravine for access to data, N. Mudie and A. Hart for help in coding, H. Nguyen for data entry, Z. Qiao for computer programming, N. Dennis for advice, the NHSCRs and cancer registries of England, Wales and Scotland for follow-up data, and Mrs M. Snigorska for secretarial help.

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Authors and Affiliations

  1. Section of Epidemiology, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK

    Craig D. Higgins, Anthony J. Swerdlow & Minouk J. Schoemaker

  2. Cell and Molecular Genetics Section, MRC Human Genetics Unit, Edinburgh, EH4 2XU, UK

    Alan F. Wright

  3. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, SP2 8BJ, UK

    Patricia A. Jacobs

Authors
  1. Craig D. Higgins
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  2. Anthony J. Swerdlow
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  3. Minouk J. Schoemaker
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  4. Alan F. Wright
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  5. Patricia A. Jacobs
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On behalf of the UK clinical cytogenetics group

Corresponding author

Correspondence to Craig D. Higgins.

Appendix: The UK Clinical Cytogenetics Group comprises

Appendix: The UK Clinical Cytogenetics Group comprises

The named authors above, plus Paul J. Batstone (Inverness Genetics Laboratory), Leslie J. Butler (NE Thames, Great Ormond Street Hospital Genetics Laboratory), Teresa Davies (Bristol Genetics Laboratory), Valerie Davison (Birmingham Genetics Laboratory), Zoe Docherty (SE Thames, Guy’s Hospital Genetics Laboratory), David P. Duckett (Leicestershire Genetics Centre), Margaret Fitchett (Oxford Genetics Laboratory), Alison Fordyce (MRC Human Genetics Unit, Edinburgh); Lorraine Gaunt (Manchester Genetics Laboratory), Elizabeth Grace (Edinburgh Genetics Laboratory), Peter Howard (Liverpool Genetics Laboratory), Gordon W. Lowther (Glasgow Genetics Laboratory), Christine Maliszewska (Dundee Genetics Laboratory), Edna L. Maltby (Sheffield Genetics Laboratory), Kevin P. Ocraft (Nottingham Genetics Laboratory), Selwyn Roberts (Wales Genetics Laboratory), Kim K. Smith (Cambridge Genetics Laboratory), Gordon S. Stephen (Aberdeen Genetics Laboratory), John W. Taylor (SW Thames, St George’s Hospital Genetics Laboratory), Catherine S. Waters (NW Thames, Northwick Park Hospital Genetics Laboratory), Jeffery Williams (Leeds Genetics Laboratory), John Wolstenholme (Newcastle Genetics Laboratory), Sheila Youings (Wessex Regional Genetics Laboratory)

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Higgins, C.D., Swerdlow, A.J., Schoemaker, M.J. et al. Mortality and cancer incidence in males with Y polysomy in Britain: a cohort study. Hum Genet 121, 691–696 (2007). https://doi.org/10.1007/s00439-007-0365-8

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  • DOI: https://doi.org/10.1007/s00439-007-0365-8

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