APOE2 and consanguinity: a risky combination for Alzheimer's disease.

OBJECTIVE: To investigate the association between APOE genotypes and Alzheimer's disease (AD) in elderly Indian subjects. The study also aims at the identification of consanguinity as disease risk factor for AD. METHODS: A total of 100 Indian patients (26 consanguineous, 74 non-consanguineous), meeting criteria for probable or definite AD and 36 cognitively healthy, elderly unrelated control subjects (spouses), were included in the study. The APOE genotyping and statistical analyses (SPSS 7.5) was performed to determine the odds of AD according to APOE genotype. RESULTS: The analysis revealed increased prevalence of E4 allele in patients as compared with controls. The difference in prevalence of E3 and E4 alleles was found to be statistically significant between consanguineous patients and controls as well as non-consanguineous patients and controls. Compared to individuals with the APOE3/3, the odds of having AD were significantly increased among those with one or more copies of the E4 allele, even after adjusting with age and sex. An interesting outcome of the study is the higher prevalence of the E2 allele in consanguineous AD patients (in contrast to previously reported studies). The risk for AD was higher in consanguineous individuals with E2/4 genotype (1.62 fold), as compared to non-consanguineous individuals. DISCUSSION: The Results support that the APOE4 allele plays a role as a risk factor for AD and suggests that the APOE2 allele may not play a protective role in the development of AD in Indians, especially individuals with family history of consanguinity. The study hypothesises that the consanguinity modifies the disease risk associated with E2 allele, although this allele is considered protective. The less number of subjects from a broader population limits the study. The wide-ranging population and ethnicity-based studies in the most inbred groups of the world may provide comprehensive insight into this conclusion.

[Fractionation of proteins of chorionic villi and chorionic membranes by two-dimensional electrophoresis]. / Fraktsionirovanie belkov vorsin khoriona i khorial'noi membrany dvumernym élektroforezom.

Human chorionic villi and choriomembrane proteins were analyzed by two-dimensional electrophoresis. The samples were obtained during the first trimester of pregnancy and were solubilized in buffer containing Triton X-100 and CHAPS. High molecular weight proteins with Mr above 200 KDa and proteins with basic pI were found to be better resolved in this buffer system that in solution containing Triton X-100 only. Nearly 200 protein spots could be visualized on the silver stained gels.

Relationship between placental alkaline phosphatase types and obstetric history of mother.

Placental alkaline phosphatase types were studied in 435 samples from Punjab (India). A comparison between women with normal and complicated obstetric histories revealed a statistically significant associations between the Pl1 alleles and higher survival rate of the fetus. The Pl2 and Pl3 alleles were found to be associated with higher rates of fetal loss and various complications of pregnancy.

Placental alkaline phosphatase polymorphism in some Punjabi populations.

Placental isozyme of alkaline phosphatase (orthophosphoric monoester hydrolase, EC 3.1.3.1.) has been studied in very few Indian populations with respect to its polymorphic form. The present study surveys the alleles encountered in some Punjabi groups of Northern India. The distinguishing physico-chemical properties of this isozyme, viz. heat stability, steady increase in maternal plasma during the course of pregnancy, and unique electrophoretic mobility have been used for its typing. The Punjabi groups surveyed are Jat (Sikh), Baniya and Khatri (all endogamous castes) and Lower Castes and others (two mixed caste groups). These groups were found to be in Hardy-Weinberg-equilibrium, and some of them revealed intergroup heterogeneity, when compared with each other. Further comparison with other Indian populations, for which data were available, also revealed interesting results.