Inheritance of Indian Childhood Cirrhosis

Abstract

Detailed pedigree charts were prepared from 120 index patients suffering from Indian childhood cirrhosis (ICC). Of the 120 families, 84 were informative for segregation analysis. Since families were ascertained through patients who came to hospital for treatment, the data were analyzed according to a single-selection model. The observed segregation ratio for the entire data was significantly lower than the one expected under the hypothesis of autosomal recessive inheritance (p = < 0.005). On the other hand, the segregation data for families with at least two affected children (multiplex families) were compatible with autosomal recessive inheritance. On this basis, however, at least 50% of all the cases of ICC would have to be of nongenetic origin. Alternatively, analysis of the data by the Falconer method indicated that ICC could be of multifactorial origin with very strong genetic determination (over 85%).

Indian Childhood Cirrhosis &ndash; A Heritable Disease

“…Moreover, the families of different sizes exhibited the same pattern of segregation. Agarwal et al [1979] have also reported a similar finding. DAR hy pothesis of inheritance was also found to be untenable.…”

“…(I-0"> 0"(Xts-X ns) Since the age of onset of ICC is variable it is necessary to adjust the expected segregation ratio by multiplying it with the mean age-dependent pe-netrancc parameter K which was taken as 0.87 as reported by Agarwal et al [ 1979], Partially Sex-Linked Recessive (PSLR) Inherit ance Hypothesis. Since from the data it was not possible to know the phase of linkage of the hetero zygous male parent, the most generally efficient method for testing the hypothesis is that of Fisher's u statistic [Fisher, 1935.…”

h CTR1 : A human gene for copper uptake identified by complementation in yeast

“…The fatal, early onset disorder Indian childhood cirrhosis, which may have both genetic and environmental contributions (35,36), is similar to Wilson disease in that copper accumulates in the liver and seems unlikely to be due to mutations in a ubiquitously expressed gene. Thus the involvement of hCTR1 or hCTR2 with an inherited human condition remains to be seen.…”

Genetic study of missing C triradius on the palm: Estimation of the heritability of liability

“…< 121.3~). This estimate suggests a genetic influence of between 88 and 100K, and is equivalent to those of the radial border termination of the thenar crease on the palm (Tay, 1979) and Indian childhood cirrhosis (Agarwal et al, 1979). Accordingly, analysis by the Falconer method suggests a possibility that the missing c triradius is of multifactorial origin with very strong genetic determination (over 88~).…”