Genetic contribution of CYP1A1 variant on treatment outcome in epilepsy patients: a functional and interethnic perspective.

CYP1A1 gene is involved in estrogen metabolism, and previously, we have reported association of variant rs2606345 with altered anti-epileptic drugs (AED) response in North Indian women with epilepsy (WWE). The present study aims to replicate the pharmacogenetic association, perform functional characterization and study its distribution within ethnically diverse Indian population. The variant was genotyped in 351 patients to assess the pharmacogenetic association and 552 healthy individuals belonging to 24 different ethnic groups to examine the distribution in Indian population. We observed significant overrepresentation of 'A' allele and 'AA' genotype in poor responders in WWE at Bonferroni-corrected significance levels. The recessive allele was found to lower the promoter activity by ~70-80% which was further substantiated by thermally less stable hairpin formed by it (ΔTm=7 °C). Among all ethnic groups, west Indo-European (IE-W-LP2) subpopulation showed highest genotypic frequency of the variant making women from this community more prone to poor AED response. Our results indicate that rs2606345 influences drug response in WWE by lowering CYP1A1 expression.

Factors affecting women's knowledge of antenatal serum screening.

Antenatal screening for fetal anomaly is offered routinely in Glasgow. This study assessed pregnant women's knowledge of the test and implications of results. Questionnaires were completed by 574 women. Knowledge of the nature and uses of the test was superior to earlier studies Two-thirds knew that screening was undertaken for Down's syndrome, and 81% for spina bifida. The majority were aware of the sample used, ages invited and gestation at which it was undertaken. Knowledge of the likely results and implications was poorer. Three-quarters were unaware that 10% of results would suggest an increased risk. Half did not realise that positive results could occur without fetal abnormality, or negative results could be falsely reassuring. Socioeconomic deprivation was associated with poorer knowledge but not lower uptake. Written information was associated with superior knowledge and higher uptake. Leaflets should be provided prior to booking, at which time resultant queries can be answered.

Etiological determinants of protein calorie undernutrition in a rural child community.

Two groups of randomly selected underweight and well-nourished preschool children residing in study villages of Punjab, Ludhiana district were examined with respect to their socioeconomic background, birth weights, dietary intakes, quality of received mother care, blood biochemistry, parasite load, psychomotor development and past illness prevalence. It was found that underweight children showed significantly less favourable indices in all of the above categories except stool parasitology suggesting an extremely intricate and complex interaction of a host of ecological variables in the causation of undernutrition. Using the discriminate analysis on readily available social variables, it was found that caste affiliation and, less so parental income were the two most significant variables distinguishing between the two groups. A model for the interaction patterns of ecological variables in their effect of protein calorie malnutrition for the given area is suggested.