Ethnic Groups Worldwide Research Articles

Bioclimatic and masticatory influences on human cranial diversity verified by analysis of 3D morphometric homologous models

This study analyzes the effects of bioclimate and masticatory factors on the regional variability of human cranial forms across 150 ethnic groups worldwide. Morphometric variables were generated using principal component analysis applied to 3D homologous models. Relationships between cranial form and bioclimate (temperature and precipitation) and masticatory factors (infratemporal space) were tested considering sampling bias due to past population movements during the late Pleistocene and/or early- to mid-Holocene. Cranial size correlated with thermal conditions, consistent with Bergmann’s rule. The length/breadth proportion of the neurocranium aligned with Allen’s rule for thermal adaptation, while no relationship with masticatory stress was found. Facial form responded to either climate or masticatory conditions, although the primary factor was unclear due to the high correlation between stresses. However, masticatory stress was identified as an equally significant factor behind facial flatness in cold regions, else than the effect of Allen’s rule. High narrowness of nasal and orbital openings correlated significantly with cold temperatures and cranial size, suggesting not only functional but also allometric effect. This study demonstrated the complexity of environmental influences on cranial form diversity, nonetheless suggested reduction of selective pressure on cranial form caused by natural environmental stress due to the development of civilization.

Highlighting the South Asian Heart Failure Epidemic.

Heart failure (HF) remains a progressive syndrome with high morbidity and mortality, and accounts for many hospitalisations globally with a downstream impact of increasing healthcare costs. South Asian individuals account for most of the global burden of non-communicable diseases. In this systematic review, a literature search was performed for all studies focusing on South Asians and HF using PubMed as the primary research tool and citations were included from relevant MEDLINE-indexed journals. Upon identification of relevant studies, pertinent data points were extracted systematically from each eligible study. South Asians have an earlier age of onset of many non-communicable diseases compared to other ethnic groups worldwide, including cardiovascular disease (CVD). Given the large number of South Asians impacted by CVD and both traditional and non-traditional risk factors for CVD, HF has the potential to become an epidemic among South Asians across the world. Individuals of South Asian origin are at elevated risk for CVD compared to many other populations and should be followed closely for the potential development of HF. This review describes what is unique to South Asian individuals at risk for and with established HF, as well as management and prognostic considerations. Future directions and potential policy changes are highlighted that can reduce the HF burden among South Asians globally.

A Review of Traditional Anthelmintic Approaches: Exploring Medicinal Plants and Polyherbal Formulations for Effective and Safe Gastrointestinal Parasite Treatment

Abstract: Gastrointestinal parasites have become the most common reason for infection in humans, affecting many people in the world. Helminthic infections pose a large threat to public health in developing countries. The most common parasites of helminths in humans are whipworms(Trichuristrichiura), roundworms(Ascarislumbricoides), tapeworms(Taenia solium), and hookworms (Ancylostoma duodenale and Necator americanus). In the current scenario, synthetic medicines are found to be effective in curing the infection but these medicines produce side-effects that impair the effectiveness of the treatment. Fortunately, in the traditional system of medicines various medicinal plants have been mentioned for their anthelmintic activities, which are relatively free from side effects and are used by ethnic groups worldwide. In the 21st century, an ideal anthelmintic agent should be cost-effective, provide a high percentage of cure, have a broad spectrum of action, and free from toxicity to the host. However, none of the modern marketed medicines fulfill these requirements. Therefore, in this view, several researchers have undertaken various in vivo and in vitro studies to scrutinize folklore medicinal plants for their proclaimed anthelmintic activity. In thisreview, we have summarized some scientifically approved polyherbal formulations and Indian medicinal plants documented for anthelmintic activity, which can be further studied to achieve novel herbal lead molecules from them by isolating their principal compounds.

Prevalence of DNA-Repair Gene mutations in Mexican men with prostate cancer

Introduction and objectiveMexico reported 26,742 new cases of prostate cancer in 2020. Different risk factors have been identified in the pathogenesis of prostate cancer. Among them, genetic factors and alterations or mutations in specific genes have been described in different ethnic groups worldwide. The aim of our study is to report the prevalence of germline DNA-repair gene mutations in Mexican patients with prostate cancer. Material and methodWe performed germline genetic testing in 50 patients with localized prostate cancer and 50 patients with metastatic prostate cancer. Demographic, clinical, and histopathological data were collected. ResultsThirty-seven germline mutations were identified in 32 patients. The most commonly affected genes were ATM in 6%, followed by FANCA (5%), and ATR (4%). BRCA2 mutations were identified in 3%. The frequency of mutations was higher in the metastatic group. Discussion and conclusionThe results of our study show different mutations from those reported in different populations or regions. The use of PARP inhibitors is indicated in patients with germline mutations, specifically BRCA2, showing improvement in overall survival and progression free survival. To our knowledge, this is the first study reporting the prevalence of mutations in DNA-repair genes in Mexican patients with prostate cancer.

Mutational Analysis of the SLC4A11 Gene in a (Filipino) Family with Congenital Hereditary Endothelial Dystrophy

Aim: The study aims to identify if mutations in the SLC4A11 gene are present in Filipino families affected with congenital hereditary endothelial dystrophy (CHED). Methods: This is a family cohort study that investigated the genetic profile of a selected family in northern Luzon, Philippines, whose members were diagnosed with congenital hereditary endothelial dystrophy (CHED). A patient who was diagnosed with CHED prior to this study served as the proband for this family. A detailed family history was obtained and a complete ophthalmologic examination was performed on each of the family members. A total of six affected members and three unaffected members were included in this study. DNA was isolated from peripheral blood samples of the family members, polymerase chain reaction (PCR) was used to amplify the gene’s entire coding region (19 exons and 2 putative promoter regions), and finally, the amplified regions were analyzed using DNA sequencing. Results: Consanguinity was not present in the family. Corneal haze was reported to have been present since birth or shortly thereafter in all the affected patients. Slit-lamp examination showed edematous corneas. Molecular studies of the SLC4A11 gene revealed four novel homozygous point mutations variably presenting in the six affected members, as well as the three unaffected members. One unaffected family member (I-1) had a novel sense mutation absent in the other family members. All affected siblings showed little phenotypic variability. Conclusions: This is the first report that gives us a genetic profile of a northern Luzon family with members affected by CHED. This study supports earlier findings that mutations in the SLC4A11 gene are not consistently the same among different ethnic groups worldwide, probably due to the disease’s genetic heterogeneity. Our study documented five novel mutations, adding to the growing list of mutations probably responsible for acquiring the CHED phenotype. It is possible that there are more novel mutations waiting to be discovered in this hereditary disease. Screening for these specific mutations in other families may prove useful for genetic counseling, prenatal diagnosis, and the future development of gene therapy.

Prevalencia de mutaciones en genes de reparación en hombres mexicanos con cáncer de próstata

Introduction and objectiveMexico reported 26,742 new cases of prostate cancer in 2020. Different risk factors have been identified in the pathogenesis of prostate cancer. Among them, genetic factors and alterations or mutations in specific genes have been described in different ethnic groups worldwide. The aim of our study is to report the prevalence of germline DNA-repair gene mutations in Mexican patients with prostate cancer. Material and methodWe performed germline genetic testing in 50 patients with localized prostate cancer and 50 patients with metastatic prostate cancer. Demographic, clinical, and histopathological data were collected. ResultsThirty-seven germline mutations were identified in 32 patients. The most commonly affected genes were ATM in 6%, followed by FANCA (5%), and ATR (4%). BRCA2 mutations were identified in 3%. The frequency of mutations was higher in the metastatic group. Discussion and ConclusionThe results of our study show different mutations from those reported in different populations or regions. The use of PARP inhibitors is indicated in patients with germline mutations, specifically BRCA2, showing improvement in overall survival and progression free survival. To our knowledge, this is the first study reporting the prevalence of mutations in DNA-repair genes in Mexican patients with prostate cancer.

Ethnobotany of traditional cosmetics among the Oromo women in Madda Walabu District, Bale Zone, Southeastern Ethiopia

Traditional cosmetics play a significant role in the cultural practices and personal hygiene of many ethnic groups worldwide. The Oromo, an indigenous community in Ethiopia, has a rich history of utilizing local plants for cosmetic purposes. However, the use of plants as traditional cosmetics has only been poorly investigated as more emphasis was given to traditional medicines. The study thus aimed to identify and document plant species, and parts used in traditional cosmetics and associated knowledge, and practices among Oromo women in the Madda Walabu district, Southeastern Ethiopia. A total of 150 Oromo women were interviewed to gather ethnobotanical information including the plant species used for cosmetics, their preparation methods, and their applications. Ethnobotanical indices were computed to determine the most important species used by the women. A total of 48 plant species belonging to 31 families used as sources of traditional cosmetics were recorded. Most of these plants were trees. Leaves were the most commonly used plant part in traditional cosmetics, and maceration and decoction were the most common preparation methods applied to prepare traditional cosmetics. Topical application of traditional cosmetics was the most common, while oral infusions were rarely reported type of administration. All categories had high informant consensus factor (ICF) values, ranging from 0.80 to 0.98. The highest ICF value was found for skin treatment, followed by the hair, and face mask. Overall, Commiphora habessinica, Gnidia stenophylla, Kalanchoe lanceolata, Mimusops kummel, Sesamothamnus rivae, Terminalia brownii, T. laxiflora, Acacia drepanolobium, A. mellifera, and Aloe citrina were the most frequently cited and culturally important plants by Oromo women for traditional cosmetics in the area. The study highlights the importance of local plant resources for maintaining cultural practices and personal hygiene. However, the cultural heritage associated with traditional cosmetics is facing threats from various factors. Therefore, a continuous effort to document and disseminate knowledge about traditional cosmetics practices to ensure their preservation and transmission and awakening younger generations about the importance of traditional cosmetics and their role in cultural heritage is crucial.

Variation in traditional knowledge of culturally important macromycete species among three indigenous communities of Oaxaca, Mexico

BackgroundFor centuries, wild mushrooms have been a forest resource of significant cultural value in several ethnic groups worldwide. In Mexico, extensive traditional knowledge on the use of fungal resources has been developed and deeply rooted. Mexico is the second country in the world in which the most species of wild mushroom are consumed, and it is considered a pioneer in ethnomycology. Nonetheless, there are still many indigenous groups in this country that have not been studied from an ethnomycological approach. The present study aimed to record the traditional knowledge on wild mushrooms in three indigenous groups of the state of Oaxaca, Mexico, and assess the variation in this knowledge within and across the studied groups.MethodsThe data were recorded from April to October 2022 within three communities belonging to the indigenous groups Chatino, Chontal, and Chinanteco. Through 84 interviews, information related to their knowledge of wild mushrooms was obtained. The cultural significance index of wild edible mushrooms was calculated for each community. Regression analyses, analysis of variance and covariance, t test, and non-metric multidimensional scaling analysis were performed to assess the distribution of traditional knowledge in the communities.ResultsA total of 32 culturally important mushroom species were recorded for the three indigenous groups (30 edible, 2 medicinal); 23 used by Chatinos, 16 by Chontales, and 6 by Chinantecos. Only Chatinos and Chinantecos use wild mushrooms in medicine. The cultural significance of wild edible mushrooms differed among groups. Traditional knowledge about wild mushrooms declines when the level of schooling increases and age decreases, especially in the Chatino group. This knowledge distributes more homogeneously in the Chontal and Chinanteco groups. Their age determines the difference in knowledge between men and women.ConclusionDocumenting how traditional knowledge differs among ethnic groups is relevant for preserving cultural and biological diversity. Factors such as level of schooling and age can affect traditional knowledge of wild mushrooms, but the effects of these factors vary within and across communities. Conducting studies encompassing a broader range of variables is of interest for a better understanding of the human–mushroom relationship.

Digital trends in autism: a scoping review exploring coverage of autism across YouTube, Twitter, and Facebook.

Autism continues to be a leading neurodevelopmental disorder across adult and pediatric populations that transcends racial, ethnic, age, and socioeconomic groups worldwide. Autism care and treatment also exerts immense costs on the healthcare system and lost productivity which are partly attributed to the existing resource limitations globally. Organizations, campaigns, and policies exist worldwide in increasing equity and accessibility of resources and services to individuals with autism. In the context of our digital era, a wealth of information is also more readily available on autism through electronic communication including social media platforms. As YouTube, Twitter and Facebook are ever-growing and among the leading social media platforms in contemporary times, examination of content covered on autism across these communication mediums is timely and warranted. This review consolidates findings from 32 sources on the sources, formats, and nature of content covered on YouTube, Twitter, and Facebook pertaining to a wealth of dimensions surrounding autism. Strengths and limitations of the studies and endeavors are presented. Implications for future campaign development, health equity, health policy, neurodiversity, and patient care are also delineated. Lastly, recommendations for future research and practice are discussed which present directions for tapping into the potential of YouTube, Twitter, and Facebook as health communication mediums across the ever-changing autism landscape.

Ethno-Medicinal Plants from the North-Central Western Ghats of India for Alternative Health Care

Ethnomedicine, synonymous with traditional medicine, is a crucial healthcare system practiced by various ethnic groups worldwide, especially among those with limited access to modern Western medicine. This study explores the rich bio-cultural diversity of the North Central Western Ghats in Karnataka, India, which harbors diverse ethnomedicinal practices. The region's tropical forests are home to an extensive array of plant species, with over 600 endemic to southern India and 95 exclusively endemic to Karnataka. The research focuses on documenting and analyzing the traditional knowledge of local communities regarding the use of plants for treating various human diseases. However, this task presents significant challenges and requires collaborative efforts from the government, NGOs, and Herbal Drug Companies. Over the last decade, ethnomedicinal studies have seen a rise, but there is still limited understanding of ethnomedicine's role in the traditional healthcare system in India. The forests of North Central Western Ghats, including Agumbe, Arbail Ghat, Chorla Betta, and others, exhibit a combination of deciduous and evergreen vegetation. These forests hold a variety of medicinal plants, adding to the region's bio-cultural richness. Scientific validation of the locally used ethnomedicinal plants further supports the development of herbal drug formulations with the support of the Ministry of Ayush, enabling the conservation and sustainable utilization of threatened and endangered species. The study emphasizes the importance of preserving traditional healers' knowledge and promoting collaboration for the preservation of ethnomedicinal practices in the region.

P222 Multi-central profile of refugee cystic fibrosis patients in Turkey

Cystic fibrosis (CF) is an autosomal recessive disease caused by cystic fibrosis transmembrane regulator protein (CFTR) gene mutations. The incidence of CF varies considerably among different ethnic groups worldwide, although it is most common in the Caucasian race. This study aims to examine the clinical course and treatment of CF among refugee patients in our country.

CONTENTIONS ABOUT COMMODIFIED ETHNIC IDENTITY; THE CASE OF CULTURAL TOURISM IN HMMAR AND MURSI COMMUNTIES OF SOUTH OMO RIFT VALLEY, ETHIOPIA

Most ethnic groups worldwide tend to engage in commercializing and commodifying their indigenous cultures and heritage. Cultural tourism is one of the areas where ethnicity is often highly commodified. In this aspect of the worldwide movement, the notion of cultural authenticity falls under a growing danger while some argue commodification will help to preserve identity through commercializing it. The other debate pertaining to the commodification of cultural identity is whether it fosters emancipation or exploitation. A much-disputed question here is who is exploited by commodification, the tourist or the community. Drawing upon these contentions around commodified ethnic identity, this study explores the specific case of cultural tourism in the Ethiopian South Omo rift valley. The findings show that the outcomes of commodification in cultural tourism for local identities can be both constructive and destructive or emancipating and exploitative. Keywords: commodification, ethnic identity, cultural tourism, emancipation, authenticity

Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.

Primary ciliary dyskinesia (PCD) is a hereditary disease caused by pathogenic variants in genes associated with motile cilia. Some variants responsible for PCD are reported to be ethnic-specific or geographical-specific. To identify the responsible PCD variants of Japanese PCD patients, we performed next-generation sequencing of a panel of 32 PCD genes or whole-exome sequencing in 26 newly identified Japanese PCD families. We then combined their genetic data with those from 40 Japanese PCD families reported previously, for an overall analysis of 66 unrelated Japanese PCD families. We conducted Genome Aggregation Database and TogoVar database analyses to reveal the PCD genetic spectrum of the Japanese population and compare with other ethnic groups worldwide. We identified 22 unreported variants among the 31 patients in the 26 newly identified PCD families, including 17 deleterious variants estimated to cause lack of transcription or nonsense-mediated mRNA decay and 5 missense mutations. In all 76 PCD patients from the 66 Japanese families, we identified 53 variants on 141 alleles in total. Copy number variation in DRC1 is the most frequent variant in Japanese PCD patients, followed by DNAH5 c.9018C>T. We found 30 variants specific to the Japanese population, of which 22 are novel. Furthermore, 11 responsible variants in the Japanese PCD patients are common in East Asian populations, while some variants are more frequent in other ethnic groups. In conclusion, PCD is genetically heterogeneous between different ethnicities, and Japanese PCD patients have a characteristic genetic spectrum.

Prostate cancer among South Asian men in the United Kingdom: A systematic review

Introduction: Rates of prostate cancer (PC) vary considerably between ethnic groups worldwide, and migratory studies have demonstrated the importance of both inherent and environmental influences. Healthcare systems also differ significantly worldwide, and comparisons of PC data between the United Kingdom and America have previously shown contradictory conclusions among ethnic groups. The South Asian population (SA) is the most predominant UK ethnic minority group. Aims: To systematically explore and critically analyse the available UK-based evidence regarding PC among SA men. Specifically, to review research that assesses the following factors: PC incidence, disease characteristics, treatment and survival outcomes. Results: The existing evidence suggests that UK SA men have a lower PC incidence and younger age at diagnosis, in comparison with White men in the United Kingdom. Contrasting evidence is presented in studies that separately analyse men originating from India, Pakistan and Bangladesh. There is insufficient and contradictory evidence regarding whether SA men show altered PC disease characteristics or have differential survival rates. The evidence is limited regarding PC treatment; however, this indicates that SA men are less frequently treated surgically compared to White men Conclusion: Further high-quality research is required focusing on accurate ethnicity allocation, analysis of separate SA origin countries, socio-economic adjustment, subgroup analysis of treatment in low-risk PC and identifying the support needs of SA minorities with PC. This will help to ensure that ethnic minorities with PC are appropriately diagnosed, counselled and treated Level of evidence: 3

Global patterns of the cranial form of modern human populations described by analysis of a 3D surface homologous model

This study assessed the regional diversity of the human cranial form by using geometric homologous models based on scanned data from 148 ethnic groups worldwide. This method adopted a template-fitting technique for a nonrigid transformation via the iterative closest point algorithm to generate the homologous meshes. Through the application of principal component analysis to 342 sampled homologous models, the largest variation was detected in overall size, and small South Asian crania were clearly verified. The next greatest diversity was found in the length/breadth proportion of the neurocranium, which showed the contrast between the elongated crania of Africans and the globular crania of Northeast Asians. Notably, this component was slightly correlated with the facial profile. Well-known facial features, such as the forward projection of the cheek among Northeast Asians and compaction of the European maxilla, were reconfirmed. These facial variations were highly correlated with the calvarial outline, particularly the degree of frontal and occipital inclines. An allometric pattern was detected in facial proportions in relation to overall cranial size; in larger crania, the facial profiles tend to be longer and narrower, as demonstrated among many American natives and Northeast Asians. Although our study did not include data on environmental variables that are likely to affect cranial morphology, such as climate or dietary conditions, the large datasets of homologous cranial models will be usefully available for seeking various attributions to phenotypic skeletal characteristics.

A Comparison of Dietary Patterns and Factors Influencing Food Choice among Ethnic Groups Living in One Locality: A Systematic Review.

Globally, the number of minority ethnic groups in high-income countries is increasing. However, despite this demographic change, most national food consumption surveys are not representative of ethnically diverse populations. In consequence, many ethnic minorities’ dietary intakes are underreported, meaning that accurate analysis of food intake and nutrient status among these groups is not possible. This systematic review aims to address these gaps and understand differences in dietary intakes and influencers of dietary habits of ethnic groups worldwide. A systematic search was conducted through three databases (Pubmed, Web of Science and Scopus) and manual searches, generating n = 56,647 results. A final search of these databases was completed on 13 September 2021, resulting in a total of 49 studies being included in this review. Overall, food group intakes—particularly fruit, vegetable and fish intake—and diet quality scores were seen to differ between ethnicities. Overall Black/African American groups were reported to be among the poorest consumers of fruit and vegetables, whilst Asian groups achieved high diet quality scores due to higher fish intakes and lower fat intakes compared to other groups. Limited data investigated how nutrient intakes, dietary and meal patterns compared between groups, meaning that not all aspects of dietary intake could be compared. Socioeconomic status and food availability appeared to be associated with food choice of ethnic groups, however, confounding factors should be considered more closely. Future work should focus on comparing nutrient intakes and meal patterns between ethnicities and investigate potential targeted interventions which may support adherence to food-based dietary guidelines by all ethnic groups.

A REVIEW OF HEALTH FUNDING FOR HIV/AIDS IN NIGERIA; 2007-2021

Human immunodeficiency virus (HIV) infection has spread over the last 30 years and has great impact on health, and employment, affecting all social and ethnic groups worldwide. Recent epidemiological data that HIV remains a public health issue that persistently drain our economic sector having claimed more than 25 million lives in the world over the last three decades. Narrative analysis was deployed for this study, literatures from previous works and official government publication were reviewed. Funding for HIV/AIDS has been so impactful and instrumental mainly from the U.S President’s Emergency Plan for AIDS Relief (PEPFAR) and the Global Fund to fight AIDS, Tuberculosis, and Malaria with technical assistance from the U.S Centers for Disease Control and Prevention (CDC).Most data were obtained from governmental and institutional reports.

Global Meta-Analysis on the Association between Behcet Syndrome and Polymorphisms from the HLA Class I (A, B, and C) and Class II (DRB1, DQB1, and DPB1) Genes.

Behcet syndrome (BS) is a multisystemic perivasculitis whose genetic susceptibility is linked to HLA region. We first meta-analysed all HLA class I and II genes involved in BS susceptibility in all ethnic groups worldwide. We identified 1141 articles and finally included 31 case-control studies after multiple rounds of selection. We analysed frequencies for 24 HLA-A alleles (3 alleles for HLA-A∗26 at four digits), 50 HLA-B alleles (11 alleles for HLA-B∗51 at four digits), 15 HLA-C alleles, 16 HLA-DRB1 alleles, 6 HLA-DQB1 alleles, and 15 HLA-DPB1 alleles. We meta-analysed only HLA allelic frequencies from at least three studies; therefore, we investigated 21 alleles out of 140. Going from 7.00 to 1.6 OR, we found 11 class I alleles conferring risk for BS: B∗51 : 08, B∗51, B∗51 : 01, B∗51 : 02, DQB1∗03, A∗26 : 01, Cw∗14, Cw∗15, Cw∗16, B∗15, and A∗26. Overall, the studies included populations from Europe (Greece, Spain, Italy, Germany, and Ireland), Asia (Korea, China, China Han, and Thailand), Middle East (Israel, Saudi Arabia, and Iran), and Morocco (as no other North-African population was included). We collected a number of ethnical groups sufficient to conduct an ethnic-specific meta-analysis where Europeans showed 11.25 OR for B∗51:08 and Japan 3.50 OR for A∗26 : 01. A remarkable result was that the most frequent HLA − B∗51 two-digit alleles associated with BS were different among populations: HLA − B∗51 : 08 in Europe, HLA − B∗51 : 01 in Turkey, and HLA − B∗51 : 02 in Japan. Overall, we discussed our real-world results with other imputation studies.

Annotation of 1350 Common Genetic Variants of the 19 ALDH Multigene Family from Global Human Genome Aggregation Database (gnomAD).

Human aldehyde dehydrogenase (ALDH) is a multigene family with 19 functional members encoding a class of diverse but important enzymes for detoxification or biotransformation of different endogenous and exogenous aldehyde substrates. Genetic mutations in the ALDH genes can cause the accumulation of toxic aldehydes and abnormal carbonyl metabolism and serious human pathologies. However, the physiological functions and substrate specificity of many ALDH genes are still unknown. Although many genetic variants of the ALDH gene family exist in human populations, their phenotype or clinical consequences have not been determined. Using the most comprehensive global human Genome Aggregation Database, gnomAD, we annotated here 1350 common variants in the 19 ALDH genes. These 1350 common variants represent all known genetic polymorphisms with a variant allele frequency of ≥0.1% (or an expected occurrence of ≥1 carrier per 500 individuals) in any of the seven major ethnic groups recorded by gnomAD. We detailed 13 types of DNA sequence variants, their genomic positions, SNP ID numbers, and allele frequencies among the seven major ethnic groups worldwide for each of the 19 ALDH genes. For the 313 missense variants identified in the gnomAD, we used two software algorithms, Polymorphism Phenotyping (PolyPhen) and Sorting Intolerant From Tolerant (SIFT), to predict the consequences of the variants on the structure and function of the enzyme. Finally, gene constraint analysis was used to predict how well genetic mutations were tolerated by selection forces for each of the ALDH genes in humans. Based on the ratio of observed and expected variant numbers in gnomAD, the three ALDH1A gene members, ALDH1A1, ALDH1A2, and ALDH1A3, appeared to have the lowest tolerance for loss-of-function mutations as compared to the other ALDH genes (# observed/# expected ratio 0.15–0.26). These analyses suggest that the ALDH1A1, ALDH1A2, and ALDH1A3 enzymes may serve a more essential function as compared with the other ALDH enzymes; functional loss mutations are much less common in healthy human populations than expected. This informatic analysis may assist the research community in determining the physiological function of ALDH isozymes and associate common variants with clinical phenotypes.

English

BACKGROUND Palmaris longus (PL) tendon agenesis varies from 5 % to 30 % in different ethnic groups worldwide. Its agenesis is associated with decreased wrist grip, pinch grip, presence of cheek dimples, difference of prevalence of agenesis with gender and handedness and with flexor carpi superficialis tendon. Student and general population surveys done in previous studies shows the association between these variables. The purpose of this study was to find out the association between the presence of cheek dimples with absence of palmaris long tendon. METHODS We examined 1200 medical and allied health students (600 males, 600 females) aged 18 - 24 years to assess the incidence of palmaris longus absence and the presence of cheek and chin dimples. The presence or absence of palmaris longus was assessed by clinical inspection using standard tests. The effectiveness of these’ standard tests’ is also tested along with wrist strength and pinch strength. RESULTS 163 students had PL agenesis. One hundred and twenty-one subjects had unilateral absence of palmaris longus (13.5 %). The tendon was absent bilaterally in 42 subjects (3.5) 77 students had either unilateral or bilateral cheek dimples out of 163 PL agenesis. The Mishra’s test is found to be most effective for properly defining the PL at wrist. CONCLUSIONS Prevalence of absence of palmaris longus is around 13.5 %. Unilateral agenesis of PL is 10 %. Absence of palmaris longus has strong association to presence of cheek dimples. Up to 45 % of PL agenesis will show either unilateral or bilateral cheek dimples. Studies on cheek dimples, panniculus carnosus are very scanty in literature; more studies might reveal interesting correlation. The grip strength of the wrist is unaffected due to palmaris longus agenesis; however, the pinch grip of 4th finger with thumb appears to be certainly decreased. Mishra’s test proves to be the best in demonstrating the PL. A radiant smile displaying the cheek dimples, has 50 % possibility of absence of PL. KEYWORDS Palmaris Longus Agenesis, Cheek Dimples, Bifid Zygomaticus Major, Panniculus Carnosus, Chin Dimples