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Most frequent South Asian haplotypes of ACE2 share identity by descent with East Eurasian populations.

ABSTRACT: It was shown that the human Angiotensin-converting enzyme 2 (ACE2) is the receptor of recent coronavirus SARS-CoV-2, and variation in this gene may affect the susceptibility of a population. Therefore, we have analysed the sequence data of ACE2 among 393 samples worldwide, focusing on South Asia. Genetically, South Asians are more related to West Eurasian populations rather than to East Eurasians. In the present analyses of ACE2, we observed that the majority of South Asian haplotypes are closer to East Eurasians rather than to West Eurasians. The phylogenetic analysis suggested that the South Asian haplotypes shared with East Eurasians involved two unique event polymorphisms (rs4646120 and rs2285666). In contrast with the European/American populations, both of the SNPs have largely similar frequencies for East Eurasians and South Asians, Therefore, it is likely that among the South Asians, host susceptibility to the novel coronavirus SARS-CoV-2 will be more similar to that of East Eurasians rather than to that of Europeans.

SUBMITTER: Srivastava A

PROVIDER: S-EPMC7494073 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Most frequent South Asian haplotypes of ACE2 share identity by descent with East Eurasian populations.

Srivastava Anshika A Pandey Rudra Kumar RK Singh Prajjval Pratap PP Kumar Pramod P Rasalkar Avinash Arvind AA Tamang Rakesh R van Driem George G Shrivastava Pankaj P Chaubey Gyaneshwer G

PloS one 20200916 9

It was shown that the human Angiotensin-converting enzyme 2 (ACE2) is the receptor of recent coronavirus SARS-CoV-2, and variation in this gene may affect the susceptibility of a population. Therefore, we have analysed the sequence data of ACE2 among 393 samples worldwide, focusing on South Asia. Genetically, South Asians are more related to West Eurasian populations rather than to East Eurasians. In the present analyses of ACE2, we observed that the majority of South Asian haplotypes are closer ...[more]

PMID: 32936832

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Project description:To investigate the polygenicity of complex traits in populations of East Asian (EAS) and European (EUR) descents, we leveraged genome-wide data from Biobank Japan, UK Biobank, and FinnGen cohorts. Specifically, we analyzed up to 215 outcomes related to 18 health domains, assessing their polygenic architecture via descriptive statistics, such as the proportion of susceptibility SNPs per trait (πc). While we did not observe EAS-EUR differences in the overall distribution of polygenicity parameters across the phenotypes investigated, there were ancestry-specific patterns in the polygenicity differences between health domains. In EAS, pairwise comparisons across health domains showed enrichment for πc differences related to hematological and metabolic traits (hematological fold-enrichment = 4.45, p = 2.15 × 10-7; metabolic fold-enrichment = 4.05, p = 4.01 × 10-6). For both categories, the proportion of susceptibility SNPs was lower than that observed for several other health domains (EAS-hematological median πc = 0.15%, EAS-metabolic median πc = 0.18%) with the strongest πc difference with respect to respiratory traits (EAS-respiratory median πc = 0.50%; hematological-p = 2.26 × 10-3; metabolic-p = 3.48 × 10-3). In EUR, pairwise comparisons showed multiple πc differences related to the endocrine category (fold-enrichment = 5.83, p = 4.76 × 10-6), where these traits showed a low proportion of susceptibility SNPs (EUR-endocrine median πc = 0.01%) with the strongest difference with respect to psychiatric phenotypes (EUR-psychiatric median πc = 0.50%; p = 1.19 × 10-4). Simulating sample sizes of 1,000,000 and 5,000,000 individuals, we also showed that ancestry-specific polygenicity patterns translate into differences across health domains in the genetic variance explained by susceptibility SNPs projected to be genome-wide significant (e.g., EAS hematological-neoplasm p = 2.18 × 10-4; EUR endocrine-gastrointestinal p = 6.80 × 10-4). These findings highlight that traits related to the same health domains may present ancestry-specific variability in their polygenicity.

Project description:BACKGROUND:Caesarean section is considered a relatively preferable and safe method of delivery as compared to normal delivery. Since the last decade, its prevalence has increased in both developed and developing countries. In the context of developing countries viz., South Asia (the highest populated region) and South-East Asia (the third-highest populated region), where a significant proportion of home deliveries were reported,however, the preference for, caesarean delivery and its associated factors are not well understood. OBJECTIVE:To study the caesarean delivery in the South and South-East Asian countries and to determine the factors associated with the preference for caesarean delivery. METHODOLOGY:Demographic and Health Survey Data on from ever-married women of nine developing countries of South and South-East Asia viz., Vietnam, India, Maldives, Timor-Leste, Nepal, Indonesia, Pakistan, Bangladesh, and Cambodia have been considered. Both bivariate and binary logistic regression models were used to estimate the propensity of a woman undergoing for caesarean delivery and to assess the influence of maternal socioeconomic characteristics towards the preference for caesarean delivery. RESULTS:Obtained results have shown an inclination of caesarean delivery among urban than rural women and are quite conspicuous, but is found to be underestimated mostly among rural women. Caesarean delivery in general is mostly predisposed among women whose baby sizes are either very large or smaller than average, have a higher level of education and place of delivery is private medical institutions. The logistic regression also revealed the influence of maternal socioeconomic characteristics towards the preference for caesarean delivery. Based on nine South and South-East Asian countries an overall C-section prevalence of 13%, but based on institutional births its increase to 19%. The forest plot demonstrated that a significant inclination of C-section among urban than rural regions. In Meta-Analysis, very high and significant heterogeneity among countries is observed, but confirms that in terms of prevalence of C-section all of the countries follow independent pattern. CONCLUSION:Study of seven urban and four rural regions of nine South and South- East Asian countries showed, a significant inclination towards the caesarean delivery above the more recent outdated WHO recommended an optimal range of 10-15%and are associated maternal socioeconomic characteristics. In order to control unwanted caesarean delivery, the government needs to develop better healthcare infrastructure and along with more antenatal care related schemes to reduce the risks associated with increased caesarean delivery.

Project description:BACKGROUND:Genetic variation in the endogenous opioid system has been identified as 1 potential source of individual variability in naltrexone treatment outcomes. The majority of naltrexone pharmacogenetic studies have focused on a particular single nucleotide polymorphism (SNP) of the mu-opioid receptor gene (OPRM1; rs1799971; commonly known as the Asn40Asp SNP) in Caucasian samples with decidedly mixed results. The goal of this study was to test the pharmacogenetic effects of naltrexone on subjective response to alcohol and self-administration of alcohol in individuals of East Asian descent. We hypothesized that naltrexone, compared with placebo, would potentiate the aversive and sedative effects of alcohol and reduce alcohol self-administration to a greater extent in Asp40 carriers. METHODS:Participants (N = 77; Asn40Asn, n = 29; Asn40Asp, n = 34, and Asp40Asp, n = 14) completed 2 double-blinded and counterbalanced experimental sessions: one after taking naltrexone (50 mg/d) for 5 days and one after taking matched placebo for 5 days. In each experimental session, participants received a priming dose of intravenous alcohol up to the breath alcohol concentration target of 0.06 g/dl which was immediately followed by an alcohol self-administration period (1 hour). RESULTS:There were no pharmacogenetic effects observed for alcohol-induced stimulation, sedation, craving for alcohol, or alcohol self-administration in the laboratory. During the self-administration period, Asp40 carriers consumed fewer drinks and had a longer latency to first drink as compared to Asn40 homozygotes. CONCLUSIONS:These findings in East Asians add to the mixed literature on naltrexone pharmacogenetics from predominantly Caucasian samples and highlight the complexity of these effects and their overall limited replicability. It is plausible that a consistent pharmacogenetic effect in tightly controlled preclinical and experimental medicine models "fades" in more complex and heterogeneous settings and samples.

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Most frequent South Asian haplotypes of ACE2 share identity by descent with East Eurasian populations.

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Most frequent South Asian haplotypes of ACE2 share identity by descent with East Eurasian populations.

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