Objective: To estimate the heritability of Kashin-Beck disease (KBD) in first-degree relatives and to identify chromosome regions likely to contain susceptibility loci for KBD.
Methods: A total of 331 probands with confirmed KBD in their pedigrees were selected from 9331 residents in 17 KBD villages of Linyou county, northwestern China. The heritability (h(2)) in first-degree relatives was estimated by using Falconer's formula. The segregation ratio was calculated by the Li-Mantel-Gart method. A total of 23 short tandem repeat (STR) loci on chromosomes 2, 11, and 12 were used to identify the susceptibility genes for KBD by linkage analysis using the GENEHUNTER program in 19 KBD pedigrees.
Results: The general prevalence rate of KBD was 13.75% in the 17 KBD villages, lower than that of 20.88% in the first-degree relatives of the KBD probands. In the first-degree relatives, the heritability was 0.064 and the segregation ratio 35.10% (p < 0.05). Slight evidence for heritability was detected only in locus D12S1725 with a logarithm of odds (LOD) score of 1.95. However, the nonparametric linkage (NPL) scores showed no linkage between KBD and the 23 loci; the maximum NPL score was 1.59 for locus D12S1725.
Conclusions: Our results show that 35.10% of the heritability is attributable to genetic variation for the KBD phenotype among individuals of Linyou county, and the segregation ratio supports a multifactorial inheritance of KBD. There is no significant linkage between KBD and the 23 markers in the Linyou population examined; however, markers near the locus D12S1725 may indicate loci for further study.