Related Experiment Video
Updated: Aug 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Genetic variant of lactase-persistent C/T-13910 is associated with bone fractures in very old age
Nabil S Enattah1, Raimo Sulkava, Pirjo Halonen
1Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
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.
Related Concept Videos
Bone Disorders
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase