Genetic ACE I/D and ACTN3 R577X polymorphisms and adolescent idiopathic scoliosis.

The etiology of adolescent idiopathic scoliosis remains unknown. Angiotensin-converting enzyme and α-actinin-3 polymorphisms influence the characteristics of muscle fibers. The aim of this study was to examine the association between idiopathic scoliosis and genetic polymorphism of angiotensin-converting enzyme and α-actinin-3. Ninety-seven females with scoliosis, and 137 healthy, age-matched control females were studied. The presence of polymorphisms was determined by PCR. A χ2 test was used to analyze differences, and odds ratios were estimated. The frequencies of ACE genotypes in the scoliotic group were 46.4% DD, 45.4% ID, and 8.2% II, while in the control group they were 40.1% DD, 43.8% ID, and 16.1% II (P = 0.197). The D allele had a frequency of 69.1% in patients with idiopathic scoliosis and 62% in the control group (P = 0.116). The frequencies of ACTN3 genotypes in females with scoliosis were 31.8% RR, 49.4% RX, and 18.8% XX, while in the control group they were 35% RR, 49% RX, and 16% XX (P = 0.810). The frequency of the R allele was 56.4% in the scoliotic group and 59.6% in the control group (P = 0.518). There was no statistically significant association between angiotensin-converting enzyme or α-actinin-3 polymorphisms and the presence of adolescent idiopathic scoliosis in females.

Frequency of X-chromatin in pregnant women during the second trimester of gestation.

The frequency of X-chromatin was determined in pregnant women during the second trimester of gestation in order to establish possible correlations with the changes in steroid hormone levels occurring during this period and compare the curve with that for normal nonpregnant women. The mean frequency of X-chromatin in oral mucosa cells from a salivary suspension was 19.97% for the 24 patients studied, a statistically higher value than that obtained for nonpregnant women.