Distribution of ApoE Variants in Four Northeast Indian Populations

Polymorphisms in the human apolipoprotein E gene (ApoE) have been extensively studied for associations with various complex diseases. Numerous population genetic studies have reported the distribution of ApoE alleles in global populations. In this study, we present new data on the distribution of ApoE polymorphisms among four Northeast Indian populations, namely, Kachari, Rabha, Ahom, and an Indo-European caste group. Allele frequencies, Hardy-Weinberg equilibrium, genotype and phenotype probabilities were based on the two SNPs, rs7412 and rs429358. Of the APOE genotypes, derived from rs429358 and rs7412 SNPs, 3/3 and 3/4 genotypes were the most frequent in all groups and only Rabha showed higher frequency of 2/3 genotype. The Kachari population showed the highest frequency of CT genotype for SNP rs429358 and the highest frequency of allele *E4 in the Indian subcontinent, which was much higher than other study populations of eastern India

Distribution of ApoE Variants in Four Northeast Indian Populations

Polymorphisms in the human apolipoprotein E gene (ApoE) have been extensively studied for associations with various complex diseases. Numerous population genetic studies have reported the distribution of ApoE alleles in global populations. In this study, we present new data on the distribution of ApoE polymorphisms among four Northeast Indian populations, namely, Kachari, Rabha, Ahom, and an Indo-European caste group. Allele frequencies, Hardy-Weinberg equilibrium, genotype and phenotype probabilities were based on the two SNPs, rs7412 and rs429358. Of the APOE genotypes, derived from rs429358 and rs7412 SNPs, 3/3 and 3/4 genotypes were the most frequent in all groups and only Rabha showed higher frequency of 2/3 genotype. The Kachari population showed the highest frequency of CT genotype for SNP rs429358 and the highest frequency of allele *E4 in the Indian subcontinent, which was much higher than other study populations of eastern India

Paternal Genetic History of the Basque Population of Spain

This study examines the genetic variation in Basque Y chromosome lineages using data on 12 Y-short tandem repeat (STR) loci in a sample of 158 males from four Basque provinces of Spain (Alava, Vizcaya, Guipuzcoa, and Navarre). As reported in previous studies, the Basques are characterized by high frequencies of haplogroup R1b (83%). AMOVA analysis demonstrates genetic homogeneity, with a small but significant amount of genetic structure between provinces (Y-short tandem repeat loci STRs: 1.71%, p 0.0369). Gene and haplotype diversity levels in the Basque population are on the low end of the European distribution (gene diversity: 0.4268; haplotype diversity: 0.9421). Post-Neolithic contribution to the paternal Basque gene pool was estimated by measuring the proportion of those haplogroups with a Time to Most Recent Common Ancestor (TMRCA) previously dated either prior (R1b, I2a2) or subsequent to (E1b1b, G2a, J2a) the Neolithic. Based on these estimates, the Basque provinces show varying degrees of post-Neolithic contribution in the paternal lineages (10.9% in the combined sample)

Smoking Habits According to Metabolic Traits in an Island Population of the Eastern Adriatic Coast

The study deals with the connection between metabolic syndrome (MS) and smoking habits of 1602 males and 828 females aged 18–97 years from the island of Hvar, Croatia. The age-adjusted prevalence of MS was higher in males (18.1– 31.2%) than females (9.7–24.2%) by all five criteria that were defined, except the one by AHA/NHLBI. The overall prevalence of MS reached 12.9% by WHO using body mass index (BMI), 13.1% by EGIR, 14.5% by WHO using waist to hip ratio (WHR), 18.2% by NCEP/ATP III, 18.9% by AHA/NHLBI, and 26.7% by IDF criteria. The prevalence of smoking habits was similar inmales (24.7%) and females (23.8%). The frequency ofmild,moderate and heavy smoking was higher in males than females, 35.8:26.6%, 31.0:27.0%, and 35.9:7.7%, respectively. Age and sex had significant influence on BMI and WHR, both being highest in male former smokers (28.15 kg/m2 and 0.973, respectively) and in female non-smokers (27.18 kg/m2 and 0.869, respectively). The appearance of arterial hypertension (HTN) differed according to frequency of smoking; males had higher prevalence than females using WHO and EGIR criteria of blood pressure ³140/90 mmHg, even after age adjustment. In males and females respectively, systolic HTN in non-smokers was 20.7:15.1%, in former smokers 17.9:15.2% and in current smokers 16.9:13.0%; diastolic HTN in non-smokers was 19.8:12.7%, in former smokers 22.4:10.5%, and in current smokers 11.3:9.1%. By NCEP, AHA, IDF criteria of blood pressure ³130/85 mmHg, arterial HTN was also more prevalent in males than females; systolic HTN in non-smokers being 31.4:19.8%, in former smokers 29.9:12.7%, and in current smokers 25.4:11.1%; and diastolic HTN in non-smokers was 20.5:11.5%, in former smokers 24.8:11.3%, and in current smokers 14.7:9.4%. According to AHA/NHLBI and IDF criteria of high plasma glucose as ³5.6 mmoL/L, both males and females in all the three categories of smokers had glucose levels above the normal range (5.80–6.31mmol/L in males and 5.80–5.91 mmol/L in females), except female current smokers (5.51 mmol/L). By WHO, EGIR and NCEP/ATP III criteria of high plasma glucose as ³6.1 mmmol/L, only male non-smokers (6.31 mmol/L) and former smokers (6.24 mmol/L) had elevated levels. Considering normal HDL-cholesterol as >1.0 mmol/L in males and >1.2 mmol/L in females, both males and females in all the three smoker’s categories had HDL within normal range; females having higher HDL levels (1.52 mmol/L) than males (1.30 mmol/L). Considering normal value for triglycerides as <1.7 mmol/L, male former smokers (1.76 mmol/L) and current smokers (1.81 mmol/L) had higher levels; and as a whole group triglycerides were higher in males than females, 1.66:1.37 mmol/L respectively. The prevalence of MS differed between males and females using various MS criteria. Both males and females had the highest prevalence of MS by IDF criteria; male former smokers 60.5%, female non-smokers 51.4%, male non-smokers 53.8%, female former smokers 38.2%, and lowest in both male and female current smokers 39.8 and 33.0% respectively. In males, the lowest prevalence of MS was observed in non-smokers by AHA criteria (30.5%), in former smokers by WHO criteria (35.7%), and in current smokers using EGIR criteria (18.1%). Females in all the three smoker’s categories had the lowest prevalence of MS using EGIR and WHO criteria. MS were less prevalent in current smokers than in non-smokers and former smokers

Autosomal short tandem repeat genetic variation of the Basques in Spain

Aim To examine population genetic structure and hypotheses of the origin of the modern Basque population in Spain using autosomal short tandem repeat (STR) data from individuals living in 27 mountain villages in the provinces of Alava, Vizcaya, Guipuzcoa, and Navarre, by comparing Basque autosomal STR variation with that of neighboring populations in Europe, as well as proposed ancestral populations in North Africa and the Caucasus. Methods Allele frequencies for 9 autosomal STR loci (D3S1358, D5S818, D7S820, D8S1179, D13S317, D18S51, D21S11, FGA, and vWA) and several population genetic parameters were determined for the 4 provinces in the Basque region of Spain (n = 377). Heterozygosity within the Basque population was measured using a locus-by-locus analysis of molecular variance. Relationships between the Basques and other populations were examined using a multidimensional scaling (MDS) plot of Shriver’s DSW distance matrix. Results Heterozygosity levels in the Basque provinces were on the low end of the European distribution (0.805-0.812). The MDS plot of genetic distances revealed that the Basques differed from both the Caucasian and North African populations with respect to autosomal STR variation. Conclusions Autosomal STR analysis does not support the hypotheses of a recent common ancestor between the Basques and populations either from the Caucasus or North Africa.Funding This work is supported in part by National Geographic Society Grant (Project 6935-00) to the University of Kansas Laboratory of Biological Anthropology

Antimycobacterial activity of linoleic acid and oleic acid obtained from the hexane extract of the seeds of Mesua ferrea L. and their in silico investigation

Tuberculosis is responsible for about 8 million deaths worldwide annually. The emergence of multidrug-resistant and extensively drug-resistant strains urgently requires the development of new drugs against tuberculosis. Drug discovery from plants against tuberculosis is an exciting area for exploration. In the present study, the fatty acids- linoleic and oleic acids isolated and identified from the seeds of the plant Mesua ferrea L. exhibited antimycobacterial activity. The analysis was done using Gas Chromatography-Mass Spectrometry and supplementary information was obtained using fourier transform-infra red and 1H and 13C nuclear magnetic resonance. The minimum inhibitory concentration of the purified fraction containing both the compounds was found to be 78 µg/mL. In silico molecular docking studies against the target proteins GlfT2, Inh A and mtKasB of Mycobacterium tuberculosis revealed high scores for both the compounds. Cytotoxicity studies of the compounds revealed no toxicity and high antioxidant activity was observed

Association between Antioxidant Enzymes and Breast Cancer

The exact antioxidant status in breast cancer patient is still not clear. So present study was focused on enzymic antioxidants such as Superoxide dismutase, Catalase, Glutathione-S-transferase, Glutathione peroxidase and Glutathione reductase in the serum of 25 histopathologically proven breast cancer patients. When the data were analyzed with age matched control the antioxidant  levels were found to decrease indicating enhanced  free radical activity in breast cancer patients while the antioxidant defense mechanism is weakened. However further elaborate clinical studies are required to evaluate the role of such antioxidant enzymes in breast cancer management

Distribution of APOE variants in four Northeast Indian populations

Polymorphisms in the human apolipoprotein E gene (ApoE) have been extensively studied for associations with various complex diseases. Numerous population genetic studies have reported the distribution of ApoE alleles in global populations. In this study, we present new data on the distribution of ApoE polymorphisms among four Northeast Indian populations, namely, Kachari, Rabha, Ahom, and an Indo-European caste group. Allele frequencies, Hardy-Weinberg equilibrium, genotype and phenotype probabilities were based on the two SNPs, rs7412 and rs429358. Of the APOE genotypes, derived from rs429358 and rs7412 SNPs, 3/3 and 3/4 genotypes were the most frequent in all groups and only Rabha showed higher frequency of 2/3 genotype. The Kachari population showed the highest frequency of CT genotype for SNP rs429358 and the highest frequency of allele *E4 in the Indian subcontinent, which was much higher than other study populations of eastern India

Genomic Diversity at Thirteen Short Tandem Repeat Loci in a Substructured Caste Population, Golla, of Southern Andhra Pradesh, India

This is the publisher's version, also available electronically from http://digitalcommons.wayne.edu/humbiol/vol73/iss2/2/Genomic diversity based on 13 short tandem repeat (STR) loci was studied in seven population groups of a substructured Golla caste from Chittoor district in southern Andhra Pradesh, India. These groups are traditionally pastoral, culturally homogeneous, and strictly endogamous. Blood samples were drawn from 317 individuals from 30 Golla villages. The 13 STR loci analyzed in five standard multiplex polymerase chain reactions were: (1) CSF1R, TH01, and PLA2A; (2) F13A1, CYP19, and LPL; (3) D21S1446 and D21S1435; (4) D20S481, D20S473, and D20S604; and (5) D5S1453 and D6S1006. The average heterozygosity was found to be low among the Golla subgroups (0.64–0.70) in comparison to that of groups at the upper levels of the hierarchy. The coefficient of gene differentiation was found to be moderate (average GST = 0.031; range between 0.018 and 0.049 among the loci) when compared to that observed for a similar class of markers among populations with relatively higher levels of hierarchy, for example, among castes. It is, however, much higher when compared to the average observed for Indian caste and tribal populations, based on classical markers. Genetic distance measures revealed clusters of populations that are consistent with the known ethnohistorical and geographical backgrounds of the groups. We claim that these hypervariable markers are quite useful in understanding the process of substructuring within the Indian castes, leading to the formation of smaller breeding isolates, the basic Mendelian units within which microevolutionary forces operate

Suggestive Linkage Detected for Blood Pressure Related Traits on 2q and 22q in the Population on the Samoan Islands

Background High blood pressure or hypertension is a major risk factor involved in the development of cardiovascular diseases. We conducted genome-wide variance component linkage analyses to search for loci influencing five blood pressure related traits including the quantitative traits systolic blood pressure (SBP), diastolic blood pressure (DBP) and pulse pressure (PP), the dichotomous trait hypertension (HT) and the bivariate quantitative trait SBP-DBP in families residing in American Samoa and Samoa, as well as in the combined sample from the two polities. We adjusted the traits for a number of environmental covariates such as smoking, alcohol consumption, physical activity and material life style. Results We found suggestive univariate linkage for SBP on chromosome 2q35-q37 (LOD 2.4) and for PP on chromosome 22q13 (LOD 2.2), two chromosomal regions that recently have been associated with SBP and PP, respectively. Conclusion We have detected additional evidence for a recently reported locus associated with SBP on chromosome 2q and a susceptibility locus for PP on chromosome 22q. However, differences observed between the results from our three partly overlapping genetically homogenous study samples from the Samoan islands suggest that additional studies should be performed in order to verify these results