Biomedical subjects

Leonid Kalichman

Publications and source records attributed to Leonid Kalichman.

3 recordsLinked to original sources

PubMed2003

Cortical index and size of hand bones: segregation analysis and linkage with the 11q12-13 segment.

BACKGROUND: Bone geometry (BG) and size (BS) are important factors in determining bone fragility. Previous studies have suggested that more than half of BG and BS variation is genetically determined. The possible chromosomal locations of genes involved in BS and BG determination have not been explored. We evaluated the extent and mode of inheritance of the radiographic hand BS index (BSI) and the metacarpal cortical index (MCI), and tested the hypothesis of linkage between these traits and the 11q 12-13 chromosomal region. MATERIAL/METHODS: Hand radiographs and blood samples were collected from 1190 individuals belonging to 349 Chuvasha nuclear families (Russian Federation). Segregation analysis was conducted on a total sample. Transmission disequilibrium testing (TDT) and model-based linkage analyses (MBLA) were performed on a sub-sample of 163 families. RESULTS: The hypothesis of a major gene effect was confirmed for both studied traits. The best-fitting models were Mendelian, with an additive type of inheritance. The inferred major gene explained 50% of the CI and 40% of the BSI variation. The TDT and MBLA results did not permit confirmation of hypotheses about linkage between hand BSI and the 11q 12-13 chromosomal region, but a possible linkage between CI and that region cannot be ruled out. CONCLUSIONS: We support the hypothesis of a major gene effect in the heritability of BSI and MCI. We provide suggestive evidence for possible linkage disequilibrium between MCI and the 11q12-13 chromosomal segment (marker D11S1983), but not for a linkage between BSI and this

Adolescent↗

PubMed2002

Mode of inheritance of hand osteoarthritis in ethnically homogeneous pedigrees.

The aim of the present study was to investigate the extent and mode of inheritance of hand osteoarthritis (OA) using a large sample of ethnically homogeneous pedigrees. Two types of segregation analysis (SA) models were examined. Type I models used the data adjusted for potential significant covariates, particularly age and sex, prior to genetic analysis. Type 11 models incorporated effects of the potential covariates into major gene penetrance functions, permitting an account of the genotype covariate-specific effect on study variables. The results of this study strongly supported the hypothesis of a major gene effect and additional multifactorial component. The best-fitting model was the Mendelian one with an additive type of inheritance. The estimates obtained using the standard three-factor variance decomposition analysis suggest that age (72.8%) and major gene (14.5%) are the main sources of interindividual differences in the development of hand OA. The contribution of the putative major gene on age- and sex-adjusted OA phenotype variation was 55% in the present study.

Adult↗

PubMedDate not supplied

Interrelationship between bone aging traits and basic anthropometric characteristics.

Using plain hand radiographs, the age dependence of various bone-aging traits (bone mineral density [BMD], cortical index [CI], osteoarthritis [OA], and osseographic [OSS] scores) was evaluated to test whether the correlation among these traits is an individual- or population-based phenomenon. In addition, the effect of anthropometric features on variation of bone-aging traits was estimated. The study included 1,295 individuals from Chuvasha, Russia, 18 to 89 years. BMD was measured from the compact compartment of the middle and distal phalanges of both 3(rd) fingers. The CI of the II-IV metacarpal bones and II-IV proximal phalanges was obtained. The development of OA was based on the standard Kellgren and Lawrence grading scheme for 28 hand joints. OSS score, a surrogate measure that takes into account different kinds of bone changes, was also obtained for each individual. Body weight and height, eight skinfold thicknesses on the trunk and extremities, and breadths of the long bones were measured. Sex-based univariate analyses and multivariate statistical analysis showed the following: 1) Age dependence was defined more strongly in "OA-linked" compared to "osteoporosis (OP)-linked" traits; 2) While "OP-linked" bone-aging traits correlated with age differently between sexes, "OA-linked" traits did not; 3) The strong interrelationship between OA-linked and OP-linked traits in both sexes became very weak and statistically insignificant (P > 0.10) after adjustment for age. Thus, OA and OP conditions in the same individual develop independently and probably reflect different underlying physiological mechanisms. 4) Anthropometric characteristics were significantly correlated with bone-aging traits, but correlations were low (r < 0.20). Thus, the contribution of anthropometric characteristics to the rate and pattern of bone aging of the hand was to relatively small.

Adolescent↗