Genetic Variant of Lactase-Persistent C/T-13910 Is Associated with Bone Fractures in Very Old Age

Authors

  • Nabil S. Enattah MD,

    1. From the Department of *Medical GeneticsMedicine, University of Helsinki, Helsinki, FinlandDepartment of Molecular Medicine, National Public Health Institute, Helsinki, Finland§Department of Public Health and General Practice, and Information Technology Center, University of Kuopio, Kuopio, FinlandRheumatism Foundation Hospital, Heinola, Finland#Laboratory of Molecular Genetics, Laboratory Services, Helsinki University Central Hospital, Helsinki, Finland.
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  • Raimo Sulkava MD,

    1. From the Department of *Medical GeneticsMedicine, University of Helsinki, Helsinki, FinlandDepartment of Molecular Medicine, National Public Health Institute, Helsinki, Finland§Department of Public Health and General Practice, and Information Technology Center, University of Kuopio, Kuopio, FinlandRheumatism Foundation Hospital, Heinola, Finland#Laboratory of Molecular Genetics, Laboratory Services, Helsinki University Central Hospital, Helsinki, Finland.
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  • Pirjo Halonen MSc,

    1. From the Department of *Medical GeneticsMedicine, University of Helsinki, Helsinki, FinlandDepartment of Molecular Medicine, National Public Health Institute, Helsinki, Finland§Department of Public Health and General Practice, and Information Technology Center, University of Kuopio, Kuopio, FinlandRheumatism Foundation Hospital, Heinola, Finland#Laboratory of Molecular Genetics, Laboratory Services, Helsinki University Central Hospital, Helsinki, Finland.
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  • Kimmo Kontula MD, PhD,

    1. From the Department of *Medical GeneticsMedicine, University of Helsinki, Helsinki, FinlandDepartment of Molecular Medicine, National Public Health Institute, Helsinki, Finland§Department of Public Health and General Practice, and Information Technology Center, University of Kuopio, Kuopio, FinlandRheumatism Foundation Hospital, Heinola, Finland#Laboratory of Molecular Genetics, Laboratory Services, Helsinki University Central Hospital, Helsinki, Finland.
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  • Irma Järvelä MD, PhD

    1. From the Department of *Medical GeneticsMedicine, University of Helsinki, Helsinki, FinlandDepartment of Molecular Medicine, National Public Health Institute, Helsinki, Finland§Department of Public Health and General Practice, and Information Technology Center, University of Kuopio, Kuopio, FinlandRheumatism Foundation Hospital, Heinola, Finland#Laboratory of Molecular Genetics, Laboratory Services, Helsinki University Central Hospital, Helsinki, Finland.
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  • The study was supported by the Sigrid Juselius Foundation, Helsinki University Research Funding, Ray (Finland's Slot Machine Association), the Ministry of Education, and the Research Council for Health of the Academy of Finland.

Address correspondence to Irma Järvelä, MD, PhD, Laboratory of Molecular Genetics, Helsinki University Central Hospital, Haartmaninkatu 2, PO Box 140, FIN-00290 Helsinki, Finland. E-mail: irma.jarvela@hus.fi

Abstract

Objectives: To determine the relation between the C/T-13910 single-nucleotide polymorphism residing 13,910 base pairs from the 5′ end of the lactase gene associated with lactase persistence and the occurrence of bone fractures in elderly people.

Design: Population-based study.

Setting: Vantaa 85+ population-based study, including all 601 subjects born before April 1, 1906, who were living in the city of Vantaa, Finland, on April 1, 1991.

Participants: Four hundred eighty-three people aged 85 and older (106 men and 377 women).

Measurements: Genotype determination was made using a polymerase chain reaction minisequencing technique.

Results: The frequency of the genotype C/C-13910 associated with adult-type hypolactasia (low lactase enzyme activity or primary lactose malabsorption (LM)) was significantly greater in individuals with hip fractures, with an adjusted odds ratio (OR) of 3.7 (95% confidence interval (CI)=1.8–7.8), wrist fractures with an adjusted OR of 2.5 (95% CI=1.2–5.2), and hip and wrist fractures combined with an adjusted OR of 4.1 (95% CI=2.0–8.3).

Conclusion: The C/C-13910 genotype associated with primary LM could represent a genetic risk factor for bone fractures for elderly people.

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