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1.
BMC Genom Data ; 25(1): 50, 2024 Jun 03.
Article in English | MEDLINE | ID: mdl-38831280

ABSTRACT

BACKGROUND: Dental caries (DC) is a multifaceted oral condition influenced by genetic and environmental factors. Recent advancements in genotyping and sequencing technologies, such as Genome-Wide Association Studies (GWAS) have helped researchers to identify numerous genetic variants associated with DC, but their prevalence and significance across diverse global populations remain poorly understood as most of the studies were conducted in European populations, and very few were conducted in Asians specifically in Indians. AIM: This study aimed to evaluate the genetic affinity of effect alleles associated with DC to understand the genetic relationship between global populations with respect to the Indian context. METHODOLOGY: This present study used an empirical approach in which variants associated with DC susceptibility were selected. These variants were identified and annotated using the GWAS summary. The genetic affinity was evaluated using Fst. RESULTS: The effect of allele frequencies among different populations was examined, revealing variations in allele distribution. African populations exhibited higher frequencies of specific risk alleles, whereas East Asian and European populations displayed distinct profiles. South Asian populations showed a unique genetic cluster. CONCLUSION: Our study emphasises the complex genetic landscape of DC and highlights the need for population-specific research as well as validation of GWAS-identified markers in Indians before defining them as established candidate genes.


Subject(s)
Dental Caries , Gene Frequency , Genome-Wide Association Study , Humans , Dental Caries/genetics , Dental Caries/epidemiology , Genetic Predisposition to Disease , Alleles , Polymorphism, Single Nucleotide , India/epidemiology , India/ethnology , Asian People/genetics
2.
HGG Adv ; 5(3): 100305, 2024 May 08.
Article in English | MEDLINE | ID: mdl-38720459

ABSTRACT

Over the past decade, genomic data have contributed to several insights on global human population histories. These studies have been met both with interest and critically, particularly by populations with oral histories that are records of their past and often reference their origins. While several studies have reported concordance between oral and genetic histories, there is potential for tension that may stem from genetic histories being prioritized or used to confirm community-based knowledge and ethnography, especially if they differ. To investigate the interplay between oral and genetic histories, we focused on the southwestern region of India and analyzed whole-genome sequence data from 156 individuals identifying as Bunt, Kodava, Nair, and Kapla. We supplemented limited anthropological records on these populations with oral history accounts from community members and historical literature, focusing on references to non-local origins such as the ancient Scythians in the case of Bunt, Kodava, and Nair, members of Alexander the Great's army for the Kodava, and an African-related source for Kapla. We found these populations to be genetically most similar to other Indian populations, with the Kapla more similar to South Indian tribal populations that maximize a genetic ancestry related to Ancient Ancestral South Indians. We did not find evidence of additional genetic sources in the study populations than those known to have contributed to many other present-day South Asian populations. Our results demonstrate that oral and genetic histories may not always provide consistent accounts of population origins and motivate further community-engaged, multi-disciplinary investigations of non-local origin stories in these communities.

3.
Mitochondrion ; 76: 101871, 2024 May.
Article in English | MEDLINE | ID: mdl-38462159

ABSTRACT

The ancient township of Vadnagar tells a story of a long chain of cultural diversity and exchange. Vadnagar has been continuously habituated and shows a presence of rich cultural amalgamation and continuous momentary sequences between the 2th century BCE and present-day. Seven cultural periods developed a complex and enriched settlement at Vadnagar in spatio-temporality. Although archaeological studies done on this oldest settlement suggested a rich cultural heritage, the genetic studies to pinpoint the genetic ancestry was lacking till date. In our current study we have for the first time reconstructed the complete mitogenomes of medieval individuals of the Vadnagar archaeological site in Gujarat. The study aimed to investigate the cosmopolitan nature of the present population as well as the migratory pattern and the inflow of different groups through trade, cultural and religious practices. Our analysis suggests heterogeneous nature of the medieval population of Vadnagar with presence of deeply rooted local ancestral components as well as central Asian genetic ancestry. This Central Asian component associated with mitochondrial haplotype U2e was not shared with any individual from India, but rather with individuals from the Bronze Age of Tajikistan and with an earlier age of coalescence. In summary, we propose that the medieval site of Vadnagar in western India was rich in cultural and genetic aspects, with both local and western Eurasian components.


Subject(s)
Genome, Mitochondrial , Humans , India , DNA, Ancient/analysis , History, Medieval , Human Migration , Archaeology , Female , DNA, Mitochondrial/genetics , Haplotypes , History, Ancient
4.
Hum Mol Genet ; 33(11): 1015-1019, 2024 May 18.
Article in English | MEDLINE | ID: mdl-38538568

ABSTRACT

The Northeastern region of India is considered a gateway for modern humans' dispersal throughout Asia. This region is a mixture of various ethnic and indigenous populations amalgamating multiple ancestries. One reason for such amalgamation is that, South Asia experienced multiple historic migrations from various parts of the world. A few examples explored genetically are Jews, Parsis and Siddis. Ahom is a dynasty that historically migrated to India during the 12th century. However, this putative migration has not been studied genetically at high resolution. Therefore, to validate this historical evidence, we genotyped autosomal data of the Modern Ahom population residing in seven sister states of India. Principal Component and Admixture analyses haave suggested a substantial admixture of the Ahom population with the local Tibeto-Burman populations. Moreover, the haplotype-based analysis has linked these Ahom individuals mainly with the Kusunda (a language isolated from Nepal) and Khasi (an Austroasiatic population of Meghalaya). Such unexpected presence of widespread population affinities suggests that Ahom mixed and assimilated a wide variety of Trans-Himalayan populations inhabiting this region after the migration. In summary, we observed a significant deviation of Ahom from their ancestral homeland (Thailand) and extensive admixture and assimilation with the local South Asian populations.


Subject(s)
Ethnicity , Genetics, Population , Haplotypes , Human Migration , Humans , India/ethnology , Ethnicity/genetics , Thailand , Asian People/genetics , Transients and Migrants
5.
Mol Genet Genomics ; 299(1): 8, 2024 Feb 19.
Article in English | MEDLINE | ID: mdl-38374307

ABSTRACT

Lakshadweep is an archipelago of 36 islands located in the Southeastern Arabian Sea. In the absence of a detailed archaeological record, the human settlement timing of this island is vague. Previous genetic studies on haploid DNA makers suggested sex-biased ancestry linked to North and South Indian populations. Maternal ancestry suggested a closer link with the Southern Indian, while paternal ancestry advocated the Northern Indian genetic affinity. Since the haploid markers are more sensitive to genetic drift, which is evident for the Island populations, we have used the biparental high-resolution single-nucleotide polymorphic markers to reconstruct the population history of Lakshadweep Islands.  Using the fine-scaled analyses, we specifically focused on (A) the ancestry components of Lakshadweep Islands populations; (B) their relation with East, West Eurasia and South Asia; (C) the number of founding lineages and (D) the putative migration from Northern India as the paternal ancestry was closer to the North Indian populations. Our analysis of ancestry components confirmed relatively higher North Indian ancestry among the Lakshadweep population. These populations are closely related to the South Asian populations. We identified mainly a single founding population for these Islands, geographically divided into two sub-clusters. By examining the population's genetic composition and analysing the gene flow from different source populations, this study contributes to our understanding of Lakshadweep Island's evolutionary history and population dynamics. These findings shed light on the complex interactions between ethnic groups and their genetic contributions in making the Lakshadweep population.


Subject(s)
Ethnicity , Genetics, Population , Humans , Ethnicity/genetics , Asian People/genetics , India , Biological Evolution
6.
Int J Legal Med ; 138(2): 615-626, 2024 Mar.
Article in English | MEDLINE | ID: mdl-37853301

ABSTRACT

Stable isotope methods for provenance of unidentified human remains are relatively a newer field of enquiry in forensic archeology. It is of great interest for forensic experts these days. The application of strontium isotope analyses for estimating geolocation of archeological remains is of great interest in bioarcheology and modern forensics. The strontium (Sr) isotope composition of human bones and teeth has been widely used to reconstruct an individual's geo-affiliation, residential mobility, and migration history. Thousands of unknown human remains, reportedly belonging to 282 Indian soldiers of 26th Native Bengal regiment and killed in 1857, were exhumed non-scientifically from an abandoned well situated underneath a religious structure at Ajnala (Amritsar, India). Whether these remains belonged to the individuals, local or non-local to the site, was the important forensic archeological question to be answered by doing their thorough forensic anthropological examinations. In the present study, 27 mandibular teeth (18 s molars, 6 first molars, and 3 premolars) collected from the Ajnala skeletal assemblage were processed for strontium isotope analysis, and the measured ratios were compared with published isotope baseline data to estimate the locality status of these remains. The Sr isotopic values were concentrated in the range of 0.7175 to 0.7270. The comparative analysis of isotopic ratios revealed that most individuals buried in the Ajnala well have 87Sr/86Sr values close to the river as well as groundwater of the Gangetic plain (less radiogenic 87Sr/86Sr ~ 0.716); most likely originated near Varanasi (Uttar Pradesh, India) region, whereas the individuals with higher 87Sr/86Sr ratios (~ 0.7200) probably resided in the West Bengal and Bihar areas where the river as well as groundwater of the Gangetic plain is relatively more radiogenic. Thus, the strontium isotope results reveal that the Ajnala individuals did not grow up or live in the Amritsar region during their childhood, and this observation complemented the previous forensic anthropological and molecular findings. There is very little Indian data on the bioavailable strontium, so the inferences from the present study estimating Sr isotope abundances are expected to provide baseline data for future forensic provenance studies that will contribute to the global efforts of mapping Sr isotope variations by the isotope community.


Subject(s)
Archaeology , Body Remains , Humans , Child , Strontium Isotopes , Strontium , Isotopes
7.
Mitochondrion ; 75: 101828, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38128747

ABSTRACT

Ladakh lies at a strategic location between the Indus River valley and the Hindu Khush Mountains, which makes the "Land of high passes" one of the major routes of movement. Through the years the region has faced multi-layered cultural movements, genetic assimilation and demographic changes. The initial settlement in the years goes back to the early Neolithic age and still continues despite its harsh, unhospitable and cold climate. Previous studies mostly covered the patrilineal markers of the region and an in-depth study lacked to represent the matrilineal ancestry and possible genetic inflow in the region. Hence, our current study first time generated complete mitogenomes of 108 unrelated individuals from Ladakh belonging to three population groups namely, Changpa (n = 38), Brokpa (n = 32) and Monpa (n = 38). In the in-depth analysis, we found that the mitogenome of the three Ladakhi groups are highly diverse in terms of maternal haplogroup distribution carrying lineages specific to East Asia (M9a), Tibbet (A21) and South Asia (M3, M30, U2). In our analysis we found that Changpa and Monpa probably have shared maternal ancestry compared to Brokpa, which is very distinct and also later suffered possible historical Bottleneck. Bayesian evolutionary and Network analysis indicates more ancient maternal lineage of Changpa and Monpa in terms of M9a haplotypes, but they also share some genetic history with Tibeto-Burman speakers in past. These findings conclusively indicate possible matrilineal genetic inflow in Ladakh from three directions, primarily from East Asia or South East Asia during post-glacial, West Eurasia and also from South Asia.


Subject(s)
Biological Evolution , Genetics, Population , Humans , Bayes Theorem , India , Haplotypes , Genetic Variation , Phylogeny , DNA, Mitochondrial/genetics
8.
Cureus ; 15(8): e44308, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37779771

ABSTRACT

Background Personal Hygiene behavior and practices play a major role in health promotion and disease prevention. Socio-demographic, behavioral, and psychological factors sway a person's overall adaptation of good practices. Disease burden leading to loss of productivity and its influence on the economy cannot be overstated. As medical professionals come in contact with a large number of people, they carry the potential to be super-spreaders in disease outbreaks. Thus, it is of utmost importance that medics and paramedics maintain hygiene to the highest standards. Method This cross-sectional study comprised 323 young adult participants from Muslim Town, Faisalabad. A structured questionnaire containing close-ended questions was used for data collection regarding personal hygiene behavior and practices. Dependency between various qualitative categorical variables and hygiene practices was analyzed using Chi-squared tests. Results It was found that although the majority of the participants followed good hygiene for most of the practices; laziness, lack of relevant education, improper time management, and unreliable water supply posed a significant barrier to good practices. Females had demonstrably better practices compared to males. Urbanity did not have a significant correlation with the results.  Conclusion We conclude that a rigorous program of awareness and education regarding this subject is the need of the hour to facilitate an improvement in predictive and preventive health care and reduce morbidity and mortality. Steps should be taken to ease the barriers that are obstructing optimal hygienic practices.

9.
Ann Med Surg (Lond) ; 85(10): 5085-5095, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37811018

ABSTRACT

Background: Traditionally, X-rays have remained the standard modality for bone fracture diagnosis. However, other diagnostic modalities most notably ultrasound have emerged as a simple, radiation-safe, effective imaging tool to diagnose bone fractures. Despite the advantages, there is a prevalent scarcity of literature recognizing its significance in bone trauma management. This review investigates the effectiveness of ultrasound in the diagnosis of various bone fractures when compared to conventional radiography such as X-rays. Methodology: Electronic databases such as PubMed/Medline, SCOPUS, and Web of Science (WOS) were reviewed for observational studies and review articles from the years 2017-2022 utilizing MESH terminology in a broad term search strategy. The search returned a total of 248 articles. After removal of duplicates, abstract, and full-text screening this systematic review ultimately utilized data from 31 articles. All searches were performed and analyzed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) methodology and were conducted during August 2022. In accordance with the guidelines for assessing the quality of included systematic reviews, we used the AMSTAR 2020, Supplemental Digital Content 2, http://links.lww.com/MS9/A241 (A Measurement Tool to Assess Systematic Reviews) tool to evaluate the methodological quality of the included studies. A data extraction form based on the Cochrane Consumers and Communication Review group's extraction template for quality assessment and evidence synthesis was used for data extraction. The information extracted included details such as author information, database, journal details, type of study, etc. Studies included will be classified into long bones, short bones, pneumatic bones, irregular bones, ankle and knee, stress fractures, hip fractures, POCUS, and others. All included studies considered bias and ethical criteria and provided valuable evidence to answer the research question. Results: The search returned a total of 248 articles, with 192 articles remaining after the removal of duplicates. Primary screening of the title and abstract articles from the database search and additional sources identified 68 relevant articles for full-text screening. This systematic review ultimately used data from 33 articles of the remaining articles we included all of them because they had more than 70% certainty, using the STROBE tool for observational articles, narrative reviews with the ENTREQ guide, and systematic reviews and meta-analyses with the PRISMA guide; however, two articles were excluded at the eligibility stage because of risk of bias. Conclusion: This systematic review provides insightful evidence on safety and effectiveness of ultrasound in diagnosing fractures when compared to the conventional imaging modalities such as X-rays. This shall promote further large-scale, multi-centre research that can eventually guide clinic practice in diagnosing and managing various bone fractures.

10.
iScience ; 26(10): 107797, 2023 Oct 20.
Article in English | MEDLINE | ID: mdl-37744037

ABSTRACT

The Sinhalese are the major ethnic group in Sri Lanka, inhabiting nearly the whole length and breadth of the island. They speak an Indo-European language of the Indo-Iranian branch, which is held to originate in northwestern India, going back to at least the fifth century BC. Previous genetic studies on low-resolution markers failed to infer the genomic history of the Sinhalese population. Therefore, we have performed a high-resolution fine-grained genetic study of the Sinhalese population and, in the broader context, we attempted to reconstruct the genetic history of Sri Lanka. Our allele-frequency-based analysis showed a tight cluster of Sinhalese and Tamil populations, suggesting strong gene flow beyond the boundary of ethnicity and language. Interestingly, the haplotype-based analysis preserved a trace of the North Indian affiliation to the Sinhalese population. Overall, in the South Asian context, Sri Lankan ethnic groups are genetically more homogeneous than others.

11.
Mitochondrion ; 71: 104-111, 2023 07.
Article in English | MEDLINE | ID: mdl-37379890

ABSTRACT

The rich cultural and genetic diversity of South Asia emerged from multiple migrations and cultural assimilation of multiple waves of migrants. The Parsi community of North-western India were one of those who migrated from West Eurasia in the aftermath of 7th century CE and assimilated into the local cultural framework. Earlier genetic studies further strengthened this notion with the finding that they harbour both Middle Eastern and South Asian genetic components. Although these studies covered both autosomal and uniparental markers, still maternal ancestry was not covered in depth and with good resolution of mitochondrial markers. Hence in our current study, we have first time generated a complete mitogenome of 19 ancient samples of the first Parsi settlers excavated from the archaeological site of Sanjan and performed detailed phylogenetic analysis to infer their maternal genetic affinity. In our analysis, we found that the Parsi mitogenome with mtDNA haplogroup M3a1 + 204 shares clade with both Middle Eastern and South Asian modern individuals in both the Maximum Likelihood tree and Bayesian phylogenetic tree. This haplogroup was also prevalent among the medieval Swat valley population of present-day Northern Pakistan and was also observed in two Roopkund A individuals. In the phylogenetic network this sample share haplotype with both South Asian and Middle Eastern samples. So conclusively, the first Parsi settlers' maternal ancestry encompasses both South Asian and Middle Eastern genetic composition.


Subject(s)
Genetics, Population , Genome, Mitochondrial , Humans , Ethnicity/genetics , Phylogeny , Bayes Theorem , India , DNA, Mitochondrial/genetics , Haplotypes , Genetic Variation
12.
Genes (Basel) ; 14(5)2023 04 23.
Article in English | MEDLINE | ID: mdl-37239323

ABSTRACT

Since 2006, Pattanam coastal village of the Ernakulam District in Kerala, India, has witnessed multi-disciplinary archaeological investigations in collaboration with leading research institutions across the world. The results confirm that the Pattanam site could be an integral part of the lost ancient port of Muziris, which, as per the material evidence from Pattanam and its contemporary sites, played an important role in the transoceanic exchanges between 100 BCE (Before Common Era) and 300 CE (Common Era). So far, the material evidence with direct provenance to the maritime exchanges related to ancient cultures of the Mediterranean, West Asian, Red Sea, African, and Asian regions have been identified at Pattanam. However, the genetic evidence supporting the impact of multiple cultures or their admixing is still missing for this important archaeological site of South India. Hence, in the current study, we tried to infer the genetic composition of the skeletal remains excavated from the site in a broader context of South Asian and worldwide maternal affinity. We applied the MassArray-based genotyping approach of mitochondrial makers and observed that ancient samples of Pattanam represent a mixed maternal ancestry pattern of both the West Eurasian ancestry and the South Asian ancestry. We observed a high frequency of West Eurasian haplogroups (T, JT, and HV) and South Asian-specific mitochondrial haplogroups (M2a, M3a, R5, and M6). The findings are consistent with the previously published and ongoing archaeological excavations, in which material remains from over three dozen of sites across the Indian Ocean, Red Sea, and Mediterranean littoral regions have been unearthed. This study confirms that people belonging to multiple cultural and linguistic backgrounds have migrated, probably settled, and eventually died on the South-western coast of India.


Subject(s)
Asian People , Genetics, Population , Humans , India , Racial Groups
13.
Med Sci Law ; 63(4): 298-308, 2023 Oct.
Article in English | MEDLINE | ID: mdl-36883247

ABSTRACT

Stable isotope analysis from bones and teeth has been widely used to estimate the likely geographic locations and dietary status of individuals whose osseous remains have been retrieved from some forensic or bio-archaeological contexts. The carbon and nitrogen stable isotope signatures can provide insights into geographic affinity and dietary habits. Ajnala skeletal remains represent a serious crime against humanity committed in past by colonial rulers and by amateur archaeologists of modern times. In present study, isotopic concentrations of carbon (δ13C) and nitrogen (δ15N) estimated from 21 mandibular molars have been used to estimate the local or non-local status of badly damaged skeletal remains retrieved from an abandoned well at Ajnala (India). The collagen samples having C/N ratio within range of 2.8-3.6 were considered as well-preserved and non-contaminated ones. The isotope concentrations of carbon and nitrogen varied from -18.7‰ to -22.9‰ and +7.6‰ to +11.7‰, with an average of -20.49 ± 1.2‰ and +9.31 ± 1.1‰, respectively. The analysis of the obtained isotope values reflected the consumption of C3/C4 mixed diet by majority of the individuals, and such type of dietary habits are mainly restricted to the reported Indo-Gangatic plain of India to which slain soldiers reportedly belonged to. These observations corroborated the previous observations about the geographic affinity and dietary status of Ajnala individuals. Though C and N isotopes are by and large not the confirmed/direct indicators of geographic origin, they can provide corroboratory information to support other observations narrowing down the dietary habits of individuals of certain specific geographical regions.


Subject(s)
Carbon , Nitrogen , Humans , Body Remains , Carbon Isotopes/analysis , Nitrogen Isotopes/analysis
14.
Proc Biol Sci ; 290(1992): 20222374, 2023 02 08.
Article in English | MEDLINE | ID: mdl-36750197

ABSTRACT

The molecular regulation of sleep in avian migrants is still obscure. We thus investigated this in migratory redheaded buntings, where four life-history states (LHS; i.e. non-migratory, pre-migratory, migratory and refractory states) were induced. There was increased night-time activity (i.e. Zugunruhe) during the migratory state with reduced daytime activity. The recordings of the sleep-wake cycle in buntings showed increased night-time active wakefulness coupled with drastically reduced front and back sleep during migratory phase. Interestingly, we found the buntings to feed and drink even after lights-off during migration. Gene expression studies revealed increased hypothalamic expression of glucocorticoid receptor (nr3c1), and pro-inflammatory cytokines (il1b and il6) in pre-migratory and migratory states, respectively, whereas in brainstem Ca2+/calmodulin-dependent protein kinase 2 (camk2) was upregulated during the migratory state. This suggested a heightened pro-inflammatory state during migration which is a feature of chronic sleep loss, and a possible role of Ca2+ signalling in promoting wakefulness. In both the hypothalamus and brainstem, the expression of melatonin receptors (mel1a and mel1b) was increased in the pre-migratory state, and growth hormone-releasing hormone (ghrh, known to induce sleep) was reduced during the migratory state. The current results demonstrate key molecules involved in the regulation of sleep-wake cycle across LHS in migratory songbirds.


Subject(s)
Passeriformes , Songbirds , Animals , Photoperiod , Seasons , Hypothalamus/metabolism , Passeriformes/physiology , Songbirds/physiology , Brain Stem , Sleep , Animal Migration/physiology
15.
Genes (Basel) ; 14(2)2023 02 14.
Article in English | MEDLINE | ID: mdl-36833406

ABSTRACT

Ancient DNA (aDNA) research first began in 1984 and ever since has greatly expanded our understanding of evolution and migration. Today, aDNA analysis is used to solve various puzzles about the origin of mankind, migration patterns, and the spread of infectious diseases. The incredible findings ranging from identifying the new branches within the human family to studying the genomes of extinct flora and fauna have caught the world by surprise in recent times. However, a closer look at these published results points out a clear Global North and Global South divide. Therefore, through this research, we aim to emphasize encouraging better collaborative opportunities and technology transfer to support researchers in the Global South. Further, the present research also focuses on expanding the scope of the ongoing conversation in the field of aDNA by reporting relevant literature published around the world and discussing the advancements and challenges in the field.


Subject(s)
DNA, Ancient , Evolution, Molecular , Human Migration , Humans
16.
Cureus ; 15(1): e33746, 2023 Jan.
Article in English | MEDLINE | ID: mdl-36788871

ABSTRACT

The use of Edaravone, given orally, for the treatment of amyotrophic lateral sclerosis (ALS) was officially approved by the Federal Drug Association (FDA) in 2017. ALS is a rare and progressive degenerative disease that worsens over time. It attacks and destroys the nerve cells that control voluntary muscles, thus leading to weakness, eventual paralysis, and, ultimately death. Edaravone was given initially intravenously, but recent evidence shows better results with oral suspension. This narrative review is aimed to investigate the benefit of Edaravone for the management of ALS, compare it to Riluzole, discuss its mechanism of action, route of use, and side effects, and ultimately discuss future implications of this pharmacotherapy.

17.
Hum Genet ; 142(2): 167-180, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36242641

ABSTRACT

The Tibetan plateau and high mountain ranges of Nepal are one of the challenging geographical regions inhabited by modern humans. While much of the ethnographic and population-based genetic studies were carried out to investigate the Tibetan and Sherpa highlanders, little is known about the demographic processes that enabled the colonization of the hilly areas of Nepal. Thus, the present study aimed to investigate the past demographic events that shaped the extant Nepalese genetic diversity using mitochondrial DNA (mtDNA) variations from ethnic Nepalese groups. We have analyzed mtDNA sequences of 999 Nepalese and compared data with 38,622 published mtDNA sequences from rest of the world. Our analysis revealed that the genomic landscapes of prehistoric Himalayan settlers of Nepal were similar to that of the low-altitude extant Nepalese (LAN), especially Newar and Magar population groups, but differ from contemporary high-altitude Sherpas. LAN might have derived their East Eurasian ancestry mainly from low-altitude Tibeto-Burmans, who likely have migrated from East Asia and assimilated across the Eastern Himalayas extended from the Eastern Nepal to the North-East of India, Bhutan, Tibet and Northern Myanmar. We also identified a clear genetic sub-structure across different ethnic groups of Nepal based on mtDNA haplogroups and ectodysplasin-A receptor (EDAR) gene polymorphism. Our comprehensive high-resolution mtDNA-based genetic study of Tibeto-Burman communities reconstructs the maternal origins of prehistoric Himalayan populations and sheds light on migration events that have brought most of the East Eurasian ancestry to the present-day Nepalese population.


Subject(s)
DNA, Mitochondrial , Genetics, Population , Humans , DNA, Mitochondrial/genetics , Asian People , Ethnicity/genetics , Tibet , Haplotypes
18.
IDCases ; 29: e01582, 2022.
Article in English | MEDLINE | ID: mdl-35915737

ABSTRACT

Thrombosis following COVID-19 vaccination commonly occurs with vector-based vaccines. The proposed mechanism is vaccine-induced thrombotic thrombocytopenia (VITT), with thrombocytopenia as principal manifestation. We present a 51-year-old male who came with isolated portal vein thrombosis (PVT) one day after Moderna vaccination, without associated thrombocytopenia, challenging VITT as being the only patho-mechanism. Further exploration of these possible alternative mechanisms is needed for COVID-19 vaccine-related thrombotic complications.

19.
Am J Transl Res ; 14(5): 3464-3471, 2022.
Article in English | MEDLINE | ID: mdl-35702131

ABSTRACT

OBJECTIVE: Obstructive Sleep Apnea (OSA) is a heterogeneous disorder with a complex interplay of genetic and environmental factors. Over the years, with advancement in genotyping and sequencing techniques, various loci have shown an association with OSA. It is pertinent to understand the status of these associated variants in different ethnic groups. The aim of the study was to assess the genetic affinity among different population groups by evaluating the risk allele frequencies of variants associated with OSA. METHOD: The variants associated with OSA were obtained from the GWAS catalog with a significant p value of <5 × 10-7; 95 variants were obtained (www.ebi.ac.uk/gwas). Further, the variants were narrowed down on the basis of risk allele frequencies (>5%). The fst was calculated to assess the genetic affinity between super population groups and among the sub-population groups present in the 1000 genome project. RESULT: The fst values observed indicated all super populations were genetically related (SAS, AMR, EAS and EUR) except in the African (AFR) population group. Further, the closely related super population i.e., SAS, AMR, EAS and EUR when bifurcated on the basis of sub-population groups shows population stratification and SAS population groups form separate clusters on the MDS plot. CONCLUSION: The study highlights genetic heterogeneity among different population groups that gets diluted and results are biased when the samples are pooled irrespective of their endogamous groups. Our results provide insight to researchers to target specific endogamous groups for future studies on OSA.

20.
Front Genet ; 13: 813934, 2022.
Article in English | MEDLINE | ID: mdl-35571044

ABSTRACT

In 2014, 157 years after the Sepoy Mutiny of 1857, several unidentified human skeletons were discovered in an abandoned well at Ajnala, Punjab. The most prevailing hypothesis suggested them as Indian soldiers who mutinied during the Indian uprising of 1857. However, there is an intense debate on their geographic affinity. Therefore, to pinpoint their area of origin, we have successfully isolated DNA from cementum-rich material of 50 good-quality random teeth samples and analyzed mtDNA haplogroups. In addition to that, we analyzed 85 individuals for oxygen isotopes (δ18O values). The mtDNA haplogroup distribution and clustering pattern rejected the local ancestry and indicated their genetic link with the populations living east of Punjab. In addition, the oxygen isotope analysis (δ18O values) from archaeological skeletal remains corroborated the molecular data and suggested the closest possible geographical affinity of these skeletal remains toward the eastern part of India, largely covering the Gangetic plain region. The data generated from this study are expected to expand our understanding of the ancestry and population affinity of martyr soldiers.

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