Strong association between polymorphisms in ANKH locus and skeletal size traits.

Full Abstract

Loss of bone strength is the main determinant of bone fragility. Bone strength is directly dependent on bone size (BS). A substantial portion of BS variation is attributable to genetic effects. However, the list of genes and allelic variants involved in the determination of BS variation is far from being complete. Polymorphisms in the ANKH gene have been shown to be associated with radiographic hand BS-related phenotypes. The present study examined the possible association of the ANKH gene with skeletal size and shape in order to test the universality of the ANKH effect on BS traits. Our sample consisted of a total of 212 ethnically homogeneous nuclear families (743 individuals) of European origin. Each individual was measured for body height, weight, and several other anthropometrical measurements, and genotyped for nine polymorphic markers (the average heterozygosity level was 0.4). We observed significant associations with practically all the anthropometrical phenotypes studied. More specifically, we found associations with body weight and height, limb length (P</=0.001; promoter region). After adjustment for body height, we demonstrated the substantial association increase for biacromial breadth (P=0.0012; some 140 kb downstream from ANKH) and vertebral column length (P=0.0008; exons 2-7 region). The majority of the observed associations persisted even after correction for multiple testing. For the first time the reliable evidence in support of universality of ANKH gene polymorphisms effect on bone size was provided.

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Author information

Author/s: Malkin, Ida (I); Ermakov, Sergey (S); Kobyliansky, Eugene (E); Livshits, Gregory (G);

Affiliation: Human Population Biology Research Unit, Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv 69978, Israel.

Journal and publication information

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal: Human genetics (Hum Genet), published in Germany. (Language: eng)

Reference: 2006-Aug; vol 120 (issue 1) : pp 42-51

Dates: Created 2006/07/07; Completed 2007/04/16;

PMID: 16724232, status: MEDLINE (last retrieval date: 12/26/2008)

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Adolescent
Adult
Aged
Aged, 80 and over
Body Weights and Measures - methods
Bone and Bones - anatomy & histology; metabolism
Female
Genotype
Haplotypes

Haplotypes
Humans
Male
Middle Aged
Nuclear Family
Phenotype
Phosphate Transport Proteins - genetics
Polymorphism, Single Nucleotide
Regression Analysis

Associated Chemicals: ANKH protein, human (0) ; Phosphate Transport Proteins (0)

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