Twins and genetic studies of man.
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Biomedical subjects
Publications and source records attributed to E Inouye.
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Source of data is "Survey on Socio-Economic Aspects of Vital Events-Plural Births in 1975", including 12,392 twin pairs, 124 triplet sets, 7 quadruplet sets and 1 quintuplet set. Fetal deaths were 3,285 for twins, 141 for triplets, 17 for quadruplets, and 5 for quintuplets, among which the number of birth defects were 78, 3, 0, and 0 respectively. Concordant twin pairs with the same category of birth defect were 20 among 56 pairs (0.36). As for the remaining 36 pairs, 2 pairs had different category of birth defects, 27 pairs had liveborn cotwins, and 7 pairs were both fetal deaths among which a twin had birth defect. The second-born twins had birth defects more frequently than the first-born twins among fetal deaths (28 vs 6).
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Applying newly devised model, heritability (VA/VP) of plasma uric acid level, corrected for age and sex and standardized, was estimated at 0.8 in families consisting of twin parents, spouses and children. Correlation between spouses due to common genotype (rho) was approximately 0.1, and variance due to common familial environment (VEC/VP) was -0.3. Analysis of families of selected twin children and their parents resulted in two estimates of heritability: approximately 0.7 and 0.3, rho being 0.34 and 0.04, and VEC/VP being 0.04 and 0.34, respectively. Regression of IQ (y) on corrected and standardized plasma uric acid level (x) in the twin children was y = 5.56x + 123, correlation being 0.334 (p less than 0.025). The result indicates a genetic basis of blood uric acid level, which may have resulted from polymorphisms in purine metabolism pathway, end product of which is uric acid in man. The significant correlation between plasma uric acid level and IQ suggests a contribution of partly common gene loci to the two quantitative traits.
The rates of MZ and DZ twin births and of triplet births slightly decreased in Japan in 1955-1967 and 1974, whereas that of trizygotic triplets tripled. The rates of triplet and quadruplet births were comparable to those of Caucasians. Although the sample size is small, Japan seems to be characterized by higher rates of triplets and quadruplets of polyembryonal origin and lower rates of those of polyovulational origin as compared to Caucasian populations. Stillbirth rates in both MZ and DZ twins gradually decreased in 1960-1967 and 1974. The rate was higher in MZ than DZ twins, and higher in males than females. The secular trends of stillbirth rates in like-sexed triplets was similar to that in twins, whereas the rate in unlike-sexed triplets remained almost constant for the entire period. The rate was higher in like-sexed than unlike-sexed triplets.
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The rates of infant mortality of twin individuals were 4.38% and 7.76% for mothers healthy and nonhealthy after delivery, respectively, and the difference is significant at the 0.01 level. The lowest infant mortality rate was seen in the mothers with paid work during pregnancy (4.56%), followed by the mothers engaged only in housekeeping (4.72%) and by those self-employed during the pregnancy (4.99%). Infant mortality rate for MZ twins decreased with increased monthly expenditure of the household, whereas the rate for DZ twins remained constant with expenditure. Socioeconomic factors still affect the infant mortality of twins, and the infant mortality rate can be improved.
The rate of infant mortality of triplet individuals (deaths under one year of age) was computed using 34 sets of triplets born in the first half of 1974. The rates were 8.82%, 9.68%, and 10.34% for the first-, second-, and the third-born triplets, respectively. For males and females the rates were 8.33% and 10.34%, respectively, and the difference was not significant. The rate decreased with gestational age up to 32-35 weeks. For those with heavier weight at birth (less than or equal to 2,000 g) the rate was lower (0%) than for those with lighter weight (less than 2,000 g, 8.16%), but the difference is not significant (P = 0.087). Infant mortality rate of triplets decreased with increased monthly expenditure of the household.
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