Fertility and mortality differentials among the population groups of the Himalayas

Selection potential based on differential fertility and mortality has been computed for 24 Himalayan populations classified into four groups: Himalayan populations with Asian affinities (HPA), Brahmans, Rajputs, and Scheduled Castes (Shilpkars). Irrespective of the methodology followed, the total index of selection was found to be highest (0.794) in Barbatiyas (HPA) and lowest (0.428) in Rajputs. The relative contribution of fertility component (If) to the index of total selection (It) is higher than the corresponding mortality component (Im) in all 24 groups. An analysis of correlation and regression on different components of the indices of selection performed among these 24 Himalayan populations revealed that the contributions of If in determining It are stronger than Im. Further, both If and Im are strongly associated with It and account for 76% and 67% of total variability in It, respectively. Examination of the relationship of the selection potential with the differential altitude and social categories showed a decrease in the index from high altitude to low altitude. Similarly, an inverse relationship was found between various indices and social categories. Himalayan populations with Asian affinities (HPA) in the present study reveal higher values of selection potential. Interestingly, these populations invariably reside in high altitude areas where health and communication infrastructures are poorly developed. Thus, the differential pattern of fertility and mortality among the Himalayan populations indicates that they are passing through a stage of transition, as is evident from the decrease in various selection indices. It is also apparent that groups that are less developed socioeconomically, as well as those inhabiting high altitude regions, are lagging behind in this process.     

Selection intensities and inbreeding among some caste groups of Andhra Pradesh,India

Abstract

An attempt is made to study the interaction of inbreeding levels with other factors in influencing the intensity of natural selection. Results suggest that selection intensity values are high in the inbred and low socioeconomic groups of Madiga and Mala (1.545, 0.687). On the other hand, the non‐inbred and high socioeconomic group of Maheshwari shows low selection intensity (0.543). Contribution of mortality to total index of selection is greater in the groups of Madiga and Mala (1.059, 1.062) than in the Maheshwari group (0.204).     

Fertility and mortality differentials among the tribal population groups of Bastar District, Madhya Pradesh, India

The authors examine fertility and mortality differentials and their impact on health care and natural selection potentials among tribal populations in rural India. Data are from the Bastar District and concern 366 mothers who have completed their reproductive life span.     

Fertility and mortality differentials among selected tribal population groups of north-western and eastern India

Selection potential based on differential fertility and mortality has been computed for six tribal groups inhabiting different geo-climatic conditions, namely: Sahariya, Mina and Bhil of the State of Rajasthan, north-western India, and Munda, Santal and Lodha of the State of West Bengal, eastern India. Irrespective of the methodology, the total index of selection was found to be highest among Lodhas (0.668), followed by Sahariyas (0.524), Santals (0.462), Bhils (0.386), Mundas (0.353) and Minas (0.334). Incidentally, Lodha and Sahariya are two of the seventy-four notified primitive tribal groups of India, and these two study populations show the highest index of total selection, mainly because of a higher embryonic and postnatal mortality. The relative contribution of the fertility component to the index of total selection is higher than the corresponding mortality component in all tribal groups. The analysis of postnatal mortality components indicates that childhood mortality constitutes the bulk of postnatal mortality, suggesting that children under 5 years need better health care in these tribal groups.     

Blood groups among brahmin and kamma caste populations of coastal Andhra Pradesh

Blood specimens from Brahmin and Kamma caste populations of Coastal Andhra Pradesh, India are examined for A₁A₂BO, MNSs, and Rhesus blood groups. Predominance of A group in Brahmins and B group in Kammas is observed. Phenotype A₂ records less than 4% in both populations. High frequencies of genes M, s, D, and e are exhibited among both populations. Statistically significant differences are found only for A₁A₂BO system between Brahmins and Kammas.     

Screening of the c-kit gene missense mutation in invasive ductal carcinoma of breast among north Indian population

Breast cancer is one of the most frequently diagnosed cancers and the leading cause of cancer deaths among females across the world, accounting for 23 % (1.38 million) of total new cancer cases and 14 % (0.45 million) of the total cancer deaths in 2008. c-kit is expressed in mast cell growth factor, cellular migration, proliferation, melanoblasts, haematopoietic progenitors and germ cells. We have designed our study with aim to explore the c-kit gene mutations in invasive ductal carcinoma (IDC) breast. To ascertain the range of mutations in exon 11, 13 and 17 of c-kit gene in 53 cases of IDC breast, we carried out PCR-SSCP followed by DNA sequencing. The mutation frequency of c-kit gene in exon 11, 13 and 17 were 9.43 % (5/53), 1.88 % (1/53) and 3.77 % (2/53), respectively. During our mutational analysis, we have detected five missense mutations in exon 11 (Pro551Leu, Glu562Val, Leu576Phe, His580Tyr and Phe584Leu), one missense mutation in exon 13 (Ser639Pro) and two missense mutations in exon 17 (Arg796Gly and Asn822Ser). It seems that c-kit mutations might participate in breast cancer pathogenesis and may be utilized as predictive marker, since the loss of c-kit positivity is generally linked with different types of breast cancer. Further molecular studies are necessary to validate the association of c-kit gene mutation in IDC breast pathogenesis.     

Marital status and mortality among middle age and elderly men and women in urban Shanghai

Background

Previous studies have suggested that marital status is associated with mortality, but few studies have been conducted in China where increasing aging population and divorce rates may have major impact on health and total mortality.

Methods

We examined the association of marital status with mortality using data from the Shanghai Women''s Health Study (1996–2009) and Shanghai Men''s Health Study (2002–2009), two population-based cohort studies of 74,942 women aged 40–70 years and 61,500 men aged 40–74 years at the study enrollment. Deaths were identified by biennial home visits and record linkage with the vital statistics registry. Marital status was categorized as married, never married, divorced, widowed, and all unmarried categories combined. Cox regression models were used to derive hazard ratios (HR) and 95% confidence interval (CI).

Results

Unmarried and widowed women had an increased all-cause HR = 1.11, 95% CI: 1.03, 1.21 and HR = 1.10, 95% CI: 1.02, 1.20 respectively) and cancer (HR = 1.17, 95% CI: 1.04, 1.32 and HR = 1.18, 95% CI: 1.04, 1.34 respectively) mortality. Never married women had excess all-cause mortality (HR = 1.46, 95% CI: 1.03, 2.09). Divorce was associated with elevated cardiovascular disease (CVD) mortality in women (HR = 1.47, 95% CI: 1.01, 2.13) and elevated all-cause mortality (HR = 2.45, 95% CI: 1.55, 3.86) in men. Amongst men, not being married was associated with excess all-cause (HR = 1.45, 95% CI: 1.12, 1.88) and CVD (HR = 1.65, 95% CI: 1.07, 2.54) mortality.

Conclusions

Marriage is associated with decreased all cause mortality and CVD mortality, in particular, among both Chinese men and women.     

Genetic differentiation among the three Hindu low caste groups of Malda district,West Bengal,India

Three descendants of Koch, Indo-Mongolid populations, have been studied for their 12 genetic markers of blood group, red cell enzyme and serum protein. Distribution of their phenotype and allele frequencies shows some variants apart from their common alleles. Analysis on genetic material reveals very low differentiation coefficient (G_ST) value for the total population, and in the distance measure the Poliya and the Tiyor stand close to each other compared to other populations. Data on ethnohistory of the peoples have been discussed in the light of the results obtained from genetic analysis.     

Multiyear and seasonal hepatitis A morbidity in different population age groups in certain areas

At the areas with high activity of hepatitis A (HA) epidemic process the duration of epidemic cycles was shown to differ, the intervals between the peaks of morbidity increasing in older age groups. The beginning of seasonal rises exceeding the average annual HA morbidity level in different age groups was found to depend on the activity of the epidemic process. At the areas with the highest activity of the epidemic process children aged 1-2 years were the first to be affected by the seasonal rise of HA. Stable direct correlation between HA morbidity levels at the beginning of seasonal rises and some markers indicative of unfavorable sanitary conditions (the size of the fly population, the purity of water samples deviating from the requirement of the Government Standard) during the preceding year was demonstrated.     

Analysis of Indian population based on Y-STRs reveals existence of male gene flow across different language groups

A study of three different Y-specific microsatellites (Y-STRs) in the populations from Uttar Pradesh (UP), Bihar (BI), Punjab (PUNJ), and Bengal (WB), speaking modern indic dialects with its roots in Indo-Aryan language, and from South of India (SI), speaking the South Indian languages with their root in Dravidian language, has shown that the predominant alleles observed represent the whole range of allelic variation reported in different population groups globally. These results indicate that the Indian population is most diverse. The similarity between the allelic variants between the populations studied by others in Africa and Asia and in this study between WB, PUNJ, UP, BI, and SI are of interest. It demonstrates that these population groups, housed in eight states of the country in different geographic locations, broadly correspond with Indo-Aryan and Dravidian language families. Further, our analyses based on haplotype frequency of different marker loci and gene diversity reveals that none of the population groups have remained isolated from others. High levels of haplotype diversity exist in all the clusters of population. Nonsignificant results based on Markov chain steps and Slatkin's linearized genetic distances indicate that there has been migration to and from in these population groups. However, some of the marginally significant interpopulation differences could be attributed to one or more of the castes with high diversity embedded within the population groups studied. Haplotype sharing between populations, F(ST) statistics, and phylogenetic analysis identifies genetic relatedness to be more between individuals belonging to two different states of India, WB and PUNJ, followed by UP and BI, whereas SI branched out separately.     

Lung cancer risk in north Indian population: role of genetic polymorphisms and smoking

Lung cancer (LC) is the leading cause of cancer-related mortality in developing as well as developed countries. Life style choices, particularly tobacco smoking, have been implicated as the main cause in the development of the LC. Despite the fact that majority cases of the LC occur among smokers, only 1–15% of smokers develop LC. In the present study, we have explored the role of genetic polymorphism, smoking habit and their association to LC in a cohort of north Indian population. The polymorphic genes explored were CYP1A1, GSTM1, GSTP1 and GSTT1 using techniques of Polymerase chain reaction (PCR), Restriction Fragment Length Polymorphism (RFLP), Real Time PCR (RT PCR), and gene sequencing. Genetic polymorphism was analysed in 253 normal participants (control) and 93 LC patients originating from Lucknow, India. Data were compared using odds ratio and Fisher Exact Test. We found that smoking increases the susceptibility to LC threefold (OR = 2.9; 95% CI: 0.9–2.8). The most significant risk for LC (OR = 3.2; 95% CI: 0.7–3.8) was found in the association of the homozygous variant of CYP1A1 gene at A2455G base change at Exon 7 (Val/Val) genotype. There was a marginally significant association between LC and GSTT1 null genotype (OR = 1.3; 95% CI: 1.0–1.7) while no significant risk association was found between GSTP1 polymorphism and LC. The present study demonstrates that the presence of null genotype of GSTM1/GSTT1 taken together with CYP1A1 (Val/Val) genotype increases the susceptibility to LC eightfold in comparison to CYP1A1 (Ile/Ile) and GSTM1/ GSTT1 genotype.     

Analysis of CCR5 and CX3CR1 gene polymorphisms in association with unexplained recurrent miscarriages among north Indian women

Context

Recurrent miscarriage (RM), defined as three or more consecutive losses before the 20th week of gestation, affects 0.5–2% of pregnant women. In over 80% of cases, RM remains unexplained after investigations, suggesting the involvement of genetic factors.

Objectives

The present study investigates the common polymorphisms of chemokine receptors CCR5 (NG_012637.1:g.5303A>G) and CX₃CR1 (NG_016362.1:g.21065C>T, Thr280Met and NG_016362.1:g.20971G>A, Val249Ile) and their association with recurrent miscarriages (RM) among north Indian women.

Participants and Methods

In a retrospective case-control study 200 well characterized patients with unexplained RM and 300 controls were genotyped for three polymorphic markers of CCR5 and CX₃CR1 by restriction digestion of PCR amplified fragments.

Results

Alleles and genotypes of CX₃CR1 Val249Ile revealed statistically significant associations with RM cases when compared with the controls. The homozygous variant genotype Ile/Ile was found to be significantly higher among patients (p = 0.0002) when compared with the homozygous wild type Val/Val genotype. The haplotype of CX₃CR1 that carried major alleles of Thr280Met and Val249Ile (T-V) showed statistically significant protective association (p < 0.0001, OR = 0.41, 95% CI = 0.31–0.54). The haplotype A-T-V (all wild type alleles) revealed a statistically significant protective association (p < 0.0001, OR = 0.41, 95% CI = 0.34–0.62), whereas the haplotypes G-T-I, A-T-I and A-M-V modified the risk of RM 1.9-fold, 5.5-fold and 5.1-fold respectively.

Conclusions

A common polymorphism of CX₃CR1 gene, Val240Ile is associated with the risk of RM in north Indian women. Risk of RM may also be modified by the presence of haplotypes T-I, M-V, G-T-I, A-T-I and A-M-V.     

Genetic structure of four socio-culturally diversified caste populations of southwest India and their affinity with related Indian and global groups

Background  

A large number of microsatellites have been extensively used to comprehend the genetic diversity of different global groups. This paper entails polymorphism at 15 STR in four predominant and endogamous populations representing Karnataka, located on the southwest coast of India. The populations residing in this region are believed to have received gene flow from south Indian populations and world migrants, hence, we carried out a detailed study on populations inhabiting this region to understand their genetic structure, diversity related to geography and linguistic affiliation and relatedness to other Indian and global migrant populations.     

Sex, age and caste differences in somatotypes of Rajput and scheduled caste adolescents from the Sirmour District of Himachal Pradesh, India

Somatotypes of a cross-sectional sample of 544 rural adolescents ranging in age from 11 to 17 years are described. The sample included 269 Rajput (141 girls and 128 boys) and 275 Scheduled Caste (135 girls and 140 boys) subjects. Each subject was somatotyped using the Heath-Carter anthropometric somatotype protocol (Carter & Heath 1990). In all, ten anthropometric measurements namely height, weight, bicondylar diameters of humerus and femur, flexed mid-upper-arm and calf circumferences, and triceps, subscapular, supraspinale and calf skinfolds were taken. The mean somatotypes of the Rajput boys and girls were 1.62- 3.30-3.85 (mesomorphic-ectomorph) and 2.42-2.90-3.99 (balanced ectomorph), respectively. The mean somatotypes of the Scheduled Caste subjects were 1.51-3.02-3.74 (mesomorphic-ectomorph) for boys and 2.38-2.64-3.70 (balanced ectomorph) for girls. A one-way ANOVA revealed that females of both the caste groups were significantly (p < or = 0.05) more endomorphic than the males. The sex differences in other two components were not significant (p +/- 0.05). Caste differences, as revealed by a one-way ANOVA analysis, were not significant (p +/- 0.05) in both sexes. With the exception of the Rajput girls, the differences in whole somatotypes between those in an early phase of adolescence and those in an advanced phase of adolescence were not significant (p = 0.05). The results indicate that populations exposed to same environmental situations for a long period of time tend to show similarity in physique. A one-way MANOVA analysis, which used Wilk's Lambda as test statistics, revealed that from 11-17 years there was no significant change (p < or = 0.05) in component dominance of mean somatotypes in the boys and girls of the present sample. Among males of a majority of the Indian populations, ectomorphy dominates over endomorphy and mesomorphy from 11 to 17 years.