Gender differences in the VDR-foki polymorphism and conventional non-genetic risk factors in association with lumbar spine pathologies in an italian case-control study

Alessandra Colombini, Marco Brayda-Bruno, Lucia Ferino, Giovanni Lombardi, Vincenzo Maione, Giuseppe Banfi, Sabina Cauci

Research output: Contribution to journalArticle


Recently, the FokI polymorphism (rs2228570) in the vitamin D receptor gene (VDR) and conventional risk factors were associated with spine disorders in the Italian population, but without gender analysis. Two-hundred and sixty-seven patients (149 males, 118 females) with lumbar spine disorders were assessed by magnetic resonance imaging (MRI) and 254 (127 males, 127 females) asymptomatic controls were enrolled. The exposure to putative risk factors was evaluated and FokI polymorphism was detected by PCR-restriction fragment length polymorphism (PCR-RFLP). An association between lumbar spine pathologies and higher than average age; overweight; family history; lower leisure physical activity; smoking habit; higher number of hours/day exposure to vibration and more sedentary or intense physical job demand was observed in male patients. In contrast, in females, only higher age, overweight, family history and lower leisure physical activity were risk factors. FF genotype was a 2-fold risk factor to develop discopathies and/or osteochondrosis concomitant with disc herniation for both gender patients, while heterozygous Ff was protective for females only. In males only ff genotype was protective for discopathies and/or osteochondrosis and F allele was a 2-fold risk factor for hernia; discopathies; discopathies and/or osteochondrosis. Sex-related differences in voluntary behaviors, exposure to environmental risks and genetic background could be crucial for a gender-differentiated management of patients with spine disorders.

Original languageEnglish
Pages (from-to)3722-3739
Number of pages18
JournalInternational Journal of Molecular Sciences
Issue number2
Publication statusPublished - Feb 9 2015



  • Gender-related differences
  • Italian population
  • Lumbar spine pathologies
  • Polymorphism
  • Risk factors
  • Vitamin D receptor

ASJC Scopus subject areas

  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Spectroscopy
  • Inorganic Chemistry
  • Catalysis
  • Molecular Biology
  • Computer Science Applications

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