Level of endosulfan among women in Talwandi Sabo Block of Southern Punjab, India.

Endosulfan is one of the most prevalent organochlorine pesticides used in the agricultural sector in the developing countries including India. It affects the physiological functioning of different organ systems including nervous, immune, hepatic, and reproductive system. Realizing the safety and health concern, restrictions have been imposed at various levels, but the usage has still continued in the plantation crops. Owing to pesticide beneficiary of north India, the cotton belt commonly called the Malwa region of Punjab was evaluated for identifying the levels of Endosulfan in the blood samples of women working in agricultural fields. Gas chromatograph with electron capture detector was used for detecting the levels of endosulfan metabolites among twenty active female workers. The mean level of endosulfan recorded in the tested population was observed to be 2.22 ppb. It is difficult to draw a certain conclusion based on these findings because the subjects were less in number. However, detection of even very low concentrations of endosulfan residues signifies its continued accessibility to the women population. Encouragement of more such population-based research needs to be adopted to determine the body burden of such pesticides in humans. The effective implementation of the ban on Endosulfan could be checked by a combined retrospective and prospective study to infer a justifiable impact.

Factors Influencing the Consumption of Tobacco amongst the Khasi Indigenous People in Northeast India.

Background: Tobacco use in any form is a major public health concern. It accounts for nearly 1.35 million deaths every year. Many chronic illnesses occur due to the consumption of tobacco, either smoke or smokeless form. The study aims to explore how smoking and smokeless tobacco consumption are distributed across a range of demographic and socioeconomic markers among Khasi indigenous people in Northeast India. Materials and Methods: It is a case-control study conducted in adults over 31 years of age. The study was carried out between June 2020 and August 2021. An Independent t-test was performed to determine the significant difference in age between smoking/smokeless tobacco users and non-tobacco users. Univariate and Multivariate analyses were conducted to determine the significant predictors affecting the use of smoking/smokeless tobacco in the respondents. Results: A total of 505 respondents were included in the present study. There was a high statistically significant difference in the income level of tobacco and non-tobacco users (P value- 0.002). In Univariate analysis, it was found that the odds of consuming both forms of tobacco were significantly lower in the respondents aged between 51-60 (OR = 0.61, P value = 0.0453). The participants who studied till graduation and above had lower odds of both using forms of tobacco as compared to respondents who were illiterate/primary educated only (OR = 0.85, P value = 0.046). Conclusion: In conclusion, smoking and smokeless tobacco consumption are still widely prevalent in this region and strongly associated with age, gender, level of education, and place of residence. There is a need for further detailed analysis to identify risk factors that are strongly associated with the use of smoke and smokeless tobacco so that the community will be conscious about the hazardous effects of tobacco use in any form.

Spectrum of MTHFR gene SNPs C677T and A1298C: a study among 23 population groups of India.

Elevated homocysteine is a risk factor for many complex disorders. The role of methylenetetrahydrofolate reductase (MTHFR) gene in methylation of homocysteine makes it one of the most important candidate genes for these disorders. Considering the heterogeneity in its distribution in world populations, we screened MTHFR C677T and A1298C single nucleotide polymorphisms in a total of 23 Indian caste, tribal and religious population groups from five geographical regions of India and belonging to four major linguistic groups. The frequencies of MTHFR 677T and 1298C alleles were found to be 10.08 and 20.66%, respectively. MTHFR homozygous genotype 677TT was absent in eight population groups and homozygous 1298CC was absent in two population groups. 677T allele was found to be highest among north Indian populations with Indo-European tongue and 1298C was high among Dravidian-speaking tribes of east India and south India. The less common mutant haplotype 677T-1298C was observed among seven population groups and overall the frequency of this haplotype was 0.008, which is similar to that of African populations. cis configuration of 677T and 1298C was 0.94%. However, we could not find any individual with four mutant alleles which supports the earlier observation that presence of more than two mutant alleles may decrease the viability of foetus and possibly be a selective disadvantage in the population.

Hypospadias risk and polymorphism in SRD5A2 and CYP17 genes: case-control study among Indian children.

PURPOSE: Hypospadias is a common congenital error of genital development, the frequency of which is increasing. As androgens have a significant role in the development of the male urethra, we sought to investigate the association between 2 functional polymorphisms, CYP17-A1/A2 and SRD5A2-V89L, which are involved in the biosynthesis of testosterone and dihydrotestosterone, respectively, in relation to hypospadias. MATERIALS AND METHODS: We examined DNA samples of 80 cases and 100 controls for SRD5A2-V89L and CYP17-A1/A2 gene polymorphisms. Information pertaining to family history, preoperative position of the urethral meatus and parental occupations along with maternal reproductive profile were collected for cases and controls. RESULTS: Genotyping of 80 cases and 100 controls revealed a significant association between V89L polymorphism and hypospadias (OR 2.4, 95% CI 1.2-4.6, p <0.05). When analyzing the risk of hypospadias based on grade, genotypic distribution of SRD5A2-LL genotype differed significantly between severe forms and controls, with an odds ratio of 3.6 (95% CI 1.2-10.0, p = 0.02). Of affected children 71.25% had parents from a rural background, with agriculture as the primary occupation. A statistically significant association was observed for the LL genotype (OR 4.6, 95% CI 1.7-12.29, p <0.05) between children with parents having an agricultural background (likely exposed to pesticides) and controls with no such exposure. CYP17-A1/A2 genotypes did not show any significant results. CONCLUSIONS: V89L polymorphism of the SRD5A2 gene is a strong determinant of hypospadias risk among children of Indian origin. However, our results suggest that the presence of leucine allele, especially among agriculturalists, may increase the propensity of having a child with hypospadias.

ACE2 and COVID-19: An anthropological perspective.

Infection caused by Novel Coronavirus has been declared a pandemic and is spreading across 213 countries and territories around the world with severe implications. The present paper tries to review the relationship of SARS-Cov-2 infection with ACE2 expression, gene polymorphism and cardiovascular malfunctions, hypertension and type-2 diabetes. The paper highlights the fact that since ACE2 gene polymorphisms tend to be population specific, screening of ACE2 polymorphisms in diverse population groups across geographies could be beneficial in evaluating the severity to SARS-Cov-2 infection.

SRD5A2 gene mutations--a population-based review.

Knowledge of steroid 5 alpha-reductase type 2 (SRD5A2) gene mutations is expanding, and its role has been implicated in various disease susceptibilities concerning reproductive health. Extensive research has revealed the tendency for specific SRD5A2 gene mutations to be passed along certain racial, ethnic and geographically isolated groups, which suggests population specificity of these mutations. The review provides evidence of variation in the mutational spectrum of the SRD5A2 gene leading to population-specific high prevalence of characteristic disease or phenotypic expression.

Sociodemographic Pattern of Postmenopausal Women and Health Issues: A Study in Rural Bathinda, Punjab.

BACKGROUND: The diminishing hormonal concentrations in women after menopause may trap them into a number of reproductive health deficits. Their lifestyle, occupation, dietary constituents, etc., affect the overall health. Unfortunately, women belonging to rural areas lack basic amenities and cultural aspects give them a backseat to pay heed to personal health. Therefore, it is important to take into consideration the demographic profile of rural women. OBJECTIVE: The objective of the study is to evaluate postmenopausal women of rural Punjab for sociodemographic, reproductive parameters and health issues. RESULTS: This study analyzed 425 women showing a high rate of illiteracy (74.6%), agricultural occupancy (85.2%), and consumption of vegetarian food (94.4%). The mean age at menarche and menopause was observed as 14.04 ± 1.12 and 47.97 ± 3.4 years, respectively. The most frequent complaints were fatigue (70.4%), backache (69.4), breathing problems (52.2%), and abdominal discomfort (43.1%). CONCLUSION: Later age at menopause in women was found concurrent with involvement in agriculture and exposure to pesticides. Delayed menopause may indicate a risk of reproductive cancers while protection in cardiovascular diseases. Therefore, age at menopause and dependent sociodemographic parameters should be considered important tools in determining the reproductive health of aging women. Large-scale studies dealing with this health aspect are warranted at village level.

Effects of Endocrine-Disrupting Chemicals and Epigenetic Modifications in Ovarian Cancer: A Review.

Ovarian cancer (OC) is a relatively fatal female reproductive malignancy. Since the underlying causes are uncertain, it brings us to believe that both genetic and external factors contribute toward development of this lethal disorder. Exposure to endocrine-disrupting chemicals (EDCs) in the form of occupational usage of pesticides, fungicides, herbicides, plasticizers, cosmetics, and so on is potentially carcinogenic and their ability to cause epigenetic modifications has led us to hypothesize that they may play a catalytic role in OC progression. In response to synthetic chemicals, animal models have demonstrated disturbances in the development of ovaries and steroid hormonal levels but in humans, more research is required. The present review is an attempt to address the impact of EDCs on the hormonal system and gene methylation levels that may lead to malfunctioning of the ovaries which may consequently develop in the form of cancer. It can be concluded that endocrine disruptors do have a potential carcinogenicity and their high proportions in human body may cause epigenetic modifications, prompting ovarian surface epithelium to grow in an abnormal manner.

Folic acid, dietary habits, and homocysteine levels in relation to neural tube defects: A case-control study in North India.

PURPOSE: The present study attempts to understand the complex contribution of biochemical (plasma homocysteine) and nutritional parameters (dietary pattern and folate supplementation) to the neural tube defects (NTDs) affected pregnancies and controls in North Indian population. METHODS: Case-control study design was adopted to assess the role of folic acid, dietary habits, and homocysteine in relation to NTD births. The subjects comprised of 130 mothers of affected children (cases) and 233 mothers of healthy children (controls), who were either carrying NTD fetus or gave birth to NTD child. RESULTS: The mean homocysteine levels were elevated in cases (15.71 ± 8.35 µmol/L) as compared to controls (12.87 ± 5.95 µmol/L) but were lower among the non-vergetarians (13.55 ± 6.64 µmol/L) than the vegetarians (14.78 ± 7.93 µmol/L). Vegetarian dietary habit increased the NTD risk by 1.6 fold (95% CI = 1.0-2.7) while folic acid supplementation demonstrated a protective effect for conceptions (OR = 0.59; 95% CI = 0.3-0.9). Consumption of folic acid with non-vegetarian diet witnessed lowering of homocysteine in cases (12.88 ± 6.81 µmol/L) and in controls (11.85 ± 5.54 µmol/L), with an odds ratio depicting a 3.1 fold risk for consuming vegetarian diet without folic acid supplementation during the peri-conceptional period. CONCLUSION: It is suggested that plasma hyperhomocysteinemia bears negative impact on child-bearing women group, of north Indian ancestry, in modulating the risk of NTDs. Efforts should be made to enhance awareness regarding folic acid and vitamin B12 (non-vegetarian diet) supplementations alongwith proper nutritional intake among women, especially those consuming vegetarian diet to control homocysteine levels in order to reduce the risk of NTDs.

Toxicological profile of organochlorines aldrin and dieldrin: an Indian perspective.

Several epidemiological studies have suggested various environmental factors as a possible cause for increased incidence of various abnormalities. Of the various environmental contaminants, the most prevalent and the most discussed are the endocrine disrupting chemicals. Contact of such disruptors with humans has become inevitable today. They are cosmopolitan and present from agriculture to industrial sectors, even in day-to-day consumer products. Aldrin and dieldrin belong to one such class of substances which are known to have a toxic effect on various physiological systems of the human body. Despite an imposed ban on their manufacture and commercial use, these pesticides could still be detected in probable areas of consumption like agriculture. The present review discusses the known possible toxic effects of aldrin and dieldrin and their current existence in the ecosystem across India.

A49T, R227Q and TA repeat polymorphism of steroid 5 alpha-reductase type II gene and Hypospadias risk in North Indian children.

BACKGROUND/AIMS: Hypospadias is a common congenital error of genital development, the frequency of which is increasing. As androgens have a significant role in the development of the male urethra, we sought to investigate the association between functional polymorphisms of SRD5A2 gene in relation to hypospadias. METHODS: We examined DNA samples of 96 cases and 105 controls for SRD5A2-A49T, R227Q and TA repeat gene polymorphisms. RESULT: Absence of 49T locus and 227Q locus was observed in the present study. At the (TA) n repeat site, TA (0) allele was observed to be the most common allele in both cases (91.7%) and controls (90%). TA (9/9) genotype exhibited an odds ratio of 3.03 (95% C.I. = 0.18-50.14, p = 0) with respect to only middle phenotypes. Analysis of the demographic data depicted the agricultural background aspect of the parents of the cases. 72.27% of the cases (affected with Hypospadias) have parents having agriculture as a primary occupation. CONCLUSION: As longer TA repeats are associated with lower enzymatic activity and lower DHT levels as reported among Caucasians, this polymorphism may have an effect (rather small) in predisposing the population of the present study to the risk of Hypospadias of lesser severity. Due to small sample size, the 3.03 O.R. is not significant and a larger sample is needed to validate the results. Large scale screening of Hypospadias and other 46 X,Y disorders of sexual development is needed especially in India, where the majority of the population is from agricultural background. The results of the present study are likely to assist the health planners to initiate screening of Hypospadias among the farmer community to combat the risk of Hypospadias.

The genomic similarities with linguistic difference: a study among the Oraon and Munda tribes of the Ranchi district, Jharkhand, India.

AIMS: The present study was conducted on two tribal communities, the Oraon and Munda, inhabiting the Ranchi district of Jharkhand state, India. The study was designed to elucidate genetic similarity, if any, shared between these tribes as they belong to the common Proto-Australoid stock but bear different linguistic affiliations. For this, a total of 98 intravenous blood samples (48 Oraon and 50 Munda) were collected from unrelated individuals of either sex up to first cousins, with their prior informed written consent. The DNA was extracted and studied for a total of 20 autosomal markers, including 7 Alu Indels, 3 DRD2 TaqI sites, 3 ß-globin sites, and 7 restriction site polymorphisms. RESULTS: All the 20 studied molecular markers were found to be polymorphic in both the tribal population groups and showed similarities with respect to allele frequencies, with a low coefficient of gene differentiation (G(ST)) value. Moreover, sharing and distribution patterns of haplotypes of the ß-globin gene cluster suggest that the Oraon and Munda share a common ancestry. However, small differences between them with reference to the linkage disequilibrium (LD) pattern indicate that the Munda might have emerged as a result of admixture between Proto-Australoids and Austro-Asiatic-speaking Mongoloids as supported by the principal co-ordinate analysis, wherein the Munda are closely placed with the Dravidian-speaking Proto-Australoid tribes of India. CONCLUSION: A common genetic substratum (Proto-Australoid stock) of the Oraon and Munda was evident in the present study, although these tribes are distinct linguistically.