Genetic Data Research Articles

The symptomatology of Attention-Deficit/Hyperactivity Disorder and the genetic control of vitamin D levels.

Vitamin D deficiency has been associated with psychiatric disorders and behavioral phenotypes such as Attention-Deficit/Hyperactivity Disorder (ADHD). Considering that vitamin D levels are polygenic, we aim to evaluate the overall effects of its genetic architecture on symptoms of inattention, hyperactivity, and impulsivity and on the serum levels of vitamin D in two independent samples of adults, as well as the specific effects of five relevant polymorphisms in vitamin D-related genes. We evaluated 870 subjects from an ADHD sample (407 cases and 463 controls) and 319 subjects from an academic community (nutrigenetic sample). Vitamin D serum levels were obtained through Elisa test and genetic data by TaqMan™ allelic discrimination and Infinium PsychArray-24 BeadChip genotyping. Polygenic Scores (PGS) were calculated on PRSice2 based on the latest GWAS for Vitamin D and statistical analyses were conducted at Plink and SPSS software. Vitamin D PGSs were associated with inattention in the ADHD sample and with hyperactivity when inattention symptoms were included as covariates. In the nutrigenetic sample, CYP2R1 rs10741657 and DHCR7 rs12785878 were nominally associated with impulsivity and hyperactivity, respectively, and both with vitamin D levels. In the clinical sample, RXRG rs2134095 was associated with impulsivity. Our findings suggest a shared genetic architecture between vitamin D levels and ADHD symptoms, as evidenced by the associations observed with PGS and specific genes related to vitamin D levels. Interestingly, differential effects for vitamin D PGS were found in inattention and hyperactivity, which should be considered in further studies involving ADHD.

Comparative analysis of machine learning algorithms for Alzheimer's disease classification using EEG signals and genetic information.

Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by cognitive decline, memory impairments, and behavioral changes. The presence of abnormal beta-amyloid plaques and tau protein tangles in the brain is known to be associated with AD. However, current limitations of imaging technology hinder the direct detection of these substances. Consequently, researchers are exploring alternative approaches, such as indirect assessments involving monitoring brain signals, cognitive decline levels, and blood biomarkers. Recent studies have highlighted the potential of integrating genetic information into these approaches to enhance early detection and diagnosis, offering a more comprehensive understanding of AD pathology beyond the constraints of existing imaging methods. Our study utilized electroencephalography (EEG) signals, genotypes, and polygenic risk scores (PRSs) as features for machine learning models. We compared the performance of gradient boosting (XGB), random forest (RF), and support vector machine (SVM) to determine the optimal model. Statistical analysis revealed significant correlations between EEG signals and clinical manifestations, demonstrating the ability to distinguish the complexity of AD from other diseases by using genetic information. By integrating EEG with genetic data in an SVM model, we achieved exceptional classification performance, with an accuracy of 0.920 and an area under the curve of 0.916. This study presents a novel approach of utilizing real-time EEG data and genetic background information for multimodal machine learning. The experimental results validate the effectiveness of this concept, providing deeper insights into the actual condition of patients with AD and overcoming the limitations associated with single-oriented data.

Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene.

Chronic enteropathy associated with SLCO2A1 gene is a rare intestinal disease caused by loss-of-function SLCO2A1 mutations, with clinical and genetic characteristics remaining largely unknown, especially in Chinese patients. This study aims to reveal clinical and genetic features of Chinese CEAS patients, highlighting the previously unreported or unemphasized characteristics. We enrolled 12 Chinese patients with chronic enteropathy associated with SLCO2A1 gene admitted to Peking Union Medical College Hospital from January 2018 to December 2022. Clinical and genetic data of these patients were collected and analyzed. 58.3% of patients were male, who also had primary hypertrophic osteoarthropathy, whereas female patients did not have primary hypertrophic osteoarthropathy. Apart from common symptoms associated with anemia and hypoalbuminemia, abdominal pain, ileus, diarrhea, and hematochezia were present. 4 of the 5 female patients had early-onset amenorrhea, though the causal relationship remained to be clarified. Endoscopy and computed tomography enterography revealed that lesions can occur in any part of the digestive tract, most commonly in the ileum. Pathology showed multiple superficial ulcers with adjacent vascular dilatation, and loss of SLCO2A1 expression, particularly in gastrointestinal vascular endothelial cells. Genetic analysis confirmed SLCO2A1 mutations in all patients and identified 11 new SLCO2A1 variants for CEAS. This study reports new clinical, pathological, and genetic findings in 12 Chinese patients with chronic enteropathy associated with SLCO2A1 gene. This study provides insights into the pathogenesis of this disease. However, studies with larger sample sizes and more in-depth mechanism research are still required.

From rare events to systematic data collection: the RESCUED registry for sudden cardiac death in the young in Germany.

Approximately one-third of sudden cardiac deaths in the young (SCDY) occur due to a structural cardiac disease. Forty to fifty percent of SCDY cases remain unexplained after autopsy (including microscopic and forensic-toxicological analyses), suggesting arrhythmia syndromes as a possible cause of death. Due to the possible inheritability of these diseases, blood relatives of the deceased may equally be carriers of the causative genetic variations and therefore may have an increased cardiac risk profile. A better understanding of the forensic, clinical, and genetic data might help identify a subset of the general population that is at increased risk of sudden cardiac death. The German registry RESCUED (REgistry for Sudden Cardiac and UnExpected Death) comprises information about SCDY fatalities and clinical and genetic data of both the deceased and their biological relatives. The datasets collected in the RESCUED registry will allow for the identification of leading causes of SCDY in Germany and offer unique possibilities of scientific analyses with the aim of detecting unrecognized trends, risk factors, and clinical warning signs of SCDY. In a pilot phase of 24months, approximately 180 SCDY cases (< 50years of age) and 500 family members and clinical patients will be included. RESCUED is the first registry in Germany collecting comprehensive data of SCDY cases and clinical data of the biological relatives reviewed by cardiac experts. RESCUED aims to improve individual risk assessment and public health approaches by directing resources towards early diagnosis and evidence-based, personalized therapy and prevention in affected families. Trial registration number (TRN): DRKS00033543.

Towards Comprehensive Newborn Hearing and Genetic Screening in Russia: Perspectives of Implementation

The universal newborn hearing screening (NHS) program was implemented in Russia in 2008 to replace the high-risk newborn hearing screening. More than 95% coverage and significant improvement in early detection and intervention is achieved. Meanwhile, it was shown that current OAE-based hearing screening missed 13% of newborns with genetically ascertained hereditary sensorineural hearing loss (SNHL). The aim of the study is to assess the results of genetic investigation and NHS in a large cohort of Russian children with bilateral SNHL and to study the feasibility of implementation of combined hearing and genetic screening in Russia. Genetic, audiological and NHS data of 1292 pediatric patients with bilateral SNHL born in 2008–2021 were analyzed. GJB2 sequencing was performed for all subjects, 644 patients had pathological GJB2 genotype, 406 of them were homozygous for c.35delG variant. The group of 155 GJB2-negative patients were searched for other SNHL genes, The pathological genotypes were identified at 87 patients. The most frequent genes were STRC (21.8%), USH2A (16.1%), OTOF (8%) and SLC26A4 (6.9%). Children with confirmed genetic etiology passed NHS in 21% of cases. The perspectives of implementation of national comprehensive newborn hearing and genetic screening including whole exome sequencing technologies are discussed.

Medulloblastomas with ELP1 pathogenic variants: a weakly penetrant syndrome with a restricted spectrum in a limited age window

Abstract Background ELP1 pathogenic variants (PV) have been recently identified as the most frequent variants predisposing to Sonic hedgehog (SHH) medulloblastomas (MB); however, guidelines are still lacking for the genetic counselling in this new syndrome. Methods We retrospectively reviewed clinical and genetic data of a French series of 29 ELP1-mutated MB. Results All patients developed SHH-MB, with a biallelic inactivation of PTCH1 found in 24 tumors. Other recurrent alterations encompassed the TP53 pathway and activation of MYCN/MYCL signaling. Median age at diagnosis was 7.3 years (range: 3-14). ELP1-mutated MB behave as sporadic cases, with similar distribution within clinical and molecular risk groups and similar outcomes (5y-OS = 86%); no unusual side effect of treatments was noticed. Remarkably, a germline ELP1 PV was identified in all patients with available constitutional DNA (n=26); moreover, all tested familial trio (n=11) revealed that the PVs were inherited. Two of the 26 index cases from the French series had a family history of MB; pedigrees from these patients and from one additional Dutch family suggested a weak penetrance. Apart from MB, no cancer was associated with ELP1 PVs; second tumors reported in 4 patients occurred within the irradiation fields, in usual time-lapse for expected radiotherapy-induced neoplasms. Conclusions the low penetrance, the ‘at risk’ age window limited to childhood and the narrow tumor spectrum, question the actual benefit of genetic screening in these patients and their family. Our results suggest restricting ELP1 germline sequencing to patients with SHH-MB, depending on the parents’ request.

Genetic profile of Brazilian patients with LAMA2-related dystrophies.

LAMA2-related dystrophies (LAMA2-RD) constitute a rare neuromuscular disorder with a broad spectrum of phenotypic severity. Our understanding of the genotype-phenotype correlations in this condition remains incomplete, and reliable clinical data for clinical trial readiness is limited. In this retrospective study, we reviewed the genetic data and medical records of 114 LAMA2-RD patients enrolled at seven research centers in Brazil. We identified 58 different pathogenic variants, including 21 novel ones. Six variants were more prevalent and were present in 81.5% of the patients. Notably, the c.1255del, c.2049_2050del, c.3976 C>T, c.5234+1G>A, and c.4739dup variants were found in patients unable to walk and without cortical malformation. In contrast, the c.2461A>C variant was present in patients who could walk unassisted. Among ambulatory patients, missense variants were more prevalent (p < 0.0001). Although no specific hotspot regions existed in the LAMA2, 51% of point mutations were in the LN domain, and 88% of the missense variants were found within this domain. Functional analysis was performed in one intronic variant (c.4960-17C>A) and revealed an out-of-frame transcript, indicating that the variant creates a cryptic splicing site (AG). Our study has shed light on crucial phenotype-genotype correlations and provided valuable insights, particularly regarding the Latin American population.

CRIMINAL LIABILITY FOR ANALYSING GENOMIC DATA WITHOUT OWNER'S CONSENT: A COMPARATIVE STUDY

Background: In the rapidly evolving landscape of genomics and biotechnology, the United Arab Emirates (UAE) has launched the Emirates Genome Program to harness the potential of genomic technologies for advancing healthcare services. Central to this initiative is the informed and voluntary participation of citizens in genetic research aimed at contributing to national health objectives through genetic data utilisation. Notably, the enactment of UAE Decree-Law No. (49) of 2023 underscores the importance of safeguarding genomic privacy as a foundational element for data security and individual rights. This study addresses the challenge of striking a delicate balance between individual genetic rights and the pressing scientific and medical needs of genomic research. It aims to analyse the right to genomic privacy and examine crimes associated with the unauthorised analysis of biological samples. Methods: This research employed an analytical legal methodology and a comparative approach to explore the crime of disclosing genomic data. By analysing Decree-Law No. (49) of 2023 and other relevant Emirati legislation, we examined the legal framework governing genomic research and data protection in the UAE. Comparative legal analysis was then conducted between Emirati and French laws to identify similarities and differences in approaches to genomic data disclosure crimes. The study also considered international standards and ethical principles to provide a comprehensive, multidisciplinary understanding of the intersection of law, ethics, and science in genomic privacy. Results and conclusions: This study’s findings underscore the necessity of establishing a robust legal framework that safeguards individual rights and ensures the confidentiality of genetic data. Such measures are crucial for fostering public trust in genomic research and aligning the UAE's genomic endeavours with rigorous ethical and legal standards. Ultimately, Decree-Law No. (49) of 2023 exemplifies the state's commitment to promoting ethical and legal practices in genomic research, thereby facilitating sustainable advancements in medical science.

Genetic variability profiling of the p53 signaling pathway in chronic lymphocytic leukemia. Individual and combined analysis of TP53, MDM2 and NQO1 gene variants.

TP53 gene disruption, including 17p13 deletion [del(17p)] and/or TP53 mutations, is a negative prognostic biomarker in chronic lymphocytic leukemia (CLL) associated with disease progression, treatment failure and shorter survival. Germline variants in p53 signaling pathway genes could also lead to p53 dysfunction, but their involvement in CLL has not been thoroughly evaluated. The aim of this study was to determine the association of TP53, MDM2 and NQO1 gene variability with clinical and genetic data of CLL patients. Individual genotype and haplotype data of CLL patients were compared with clinical prognostic factors, cytogenetic and molecular cytogenetic findings as well as IGHV and TP53 mutational status. The study included 116 CLL patients and 161 healthy blood donors. TP53 (rs1042522, rs59758982, rs1625895), NQO1 (rs1800566) and MDM2 (rs2279744, rs150550023) variants were genotyped using different PCR approaches. Analysis of genotype frequencies revealed no association with the risk of CLL. TP53 rs1042522, rs1625895 and MDM2 rs2279744 variants were significantly associated with abnormal karyotype and the presence of del(17p). Similarly, these two TP53 variants were associated with TP53 disruption. Moreover, TP53 C-A-nondel and G-A-del haplotypes (rs1042522-rs1625895-rs59758982) were associated with an increased likelihood of carrying del(17p) and TP53 disruptions. MDM2 T-nondel haplotype (rs2279744-rs150550023) was found to be a low risk factor for del(17p) (OR = 0.32; CI: 0.12-0.82; p = 0.02) and TP53 disruptions (OR = 0.41; CI: 0.18-0.95; p = 0.04). Our findings suggest that TP53 and MDM2 variants may modulate the risk to have chromosome alterations and TP53 disruptions, particularly del(17p). To our knowledge this is the first study of several germline variants in p53 pathway genes in Argentine patients with CLL.

Wildlife following people: A multidisciplinary assessment of the ancient colonization of the Mediterranean Basin by a long‐lived raptor

Abstract Modern humans widely shaped present ecosystems through intentional and unintentional geographical redistribution of wildlife, both in historical and pre‐historical times. However, the patterns of ancient human‐mediated indirect changes in wildlife range are largely unknown, and the mechanisms behind them remain obscure. We used a multidisciplinary approach to (a) reconstruct the process of colonization of the Mediterranean Basin by a long‐lived bird of prey, the Bonelli's eagle (Aquila fasciata), and (b) test the hypothesis that this colonization was unintentionally favoured by anatomically modern humans through a release of competition by dominant species, primarily golden eagles (A. chrysaetos). The fossil record of Bonelli's eagles in the Mediterranean Basin was restricted to the last c. 50 ky. This timing matches the period of modern human presence in Europe. Distribution modelling showed that Bonelli's eagles find more suitable conditions in interglacial periods, while glacial maxima are largely unfavourable unless in coastal refugia. In agreement with this, all Bonelli's eagle's fossils were found in coastal areas, and demographic inference from genetic data revealed a drop in the effective population size by around the last glacial maximum. In today's communities, we found a strongly asymmetric competitive relationship between (subordinate) Bonelli's and (dominant) golden eagles, with the former occupying far more humanized areas than the latter both at the landscape scale and the local (i.e. nesting cliff) scale. Moreover, the nesting habitat overlap analysis indicated that, in the absence of the other species, a notably higher population of Bonelli's eagle, but not of golden eagle, could be expected. Our findings are consistent with the human‐mediated competitor release hypothesis, by which anatomically modern humans could have unintentionally favoured the large‐scale colonization by Bonelli's eagles of a previously competitively hostile Mediterranean Basin. Reconstructing the role of ancient humans in shaping present ecosystems may help to understand the historical, current and future population trajectories of competing species of conservation concern under the ongoing scenario of global environmental change. It also illustrates how human‐mediated apparent competition may promote large‐scale redistribution and colonization of wildlife, including long‐lived species. Read the free Plain Language Summary for this article on the Journal blog.

Assessing the causality of interferon‐γ and its receptor 1/2 with systemic lupus erythematosus risk using genetic data

AbstractBackgroundThe interferon‐γ (IFN‐γ) signaling pathway is activated in systemic lupus erythematosus (SLE). This study aimed to assess the causal association between IFN‐γ, IFN‐γ receptor 1 (IFN‐γR1), and IFN‐γR2 and SLE using a bidirectional Mendelian randomization (MR) design.MethodsGenetic instruments for exposure to IFN‐γ, IFN‐γR1, and IFN‐γR2 were derived from a large genome‐wide association study (GWAS) that included a sample size of 3301 participants. Instrumental variables for SLE were selected from another independent GWAS analysis comprising 5201 cases and 6099 controls with European ancestry. Bidirectional two‐sample MR was performed using inverse variance weighting, MR‐Egger regression, and weighted median methods. A series of sensitivity analyses were conducted to assess the robustness of the results.ResultsThe inverse variance weighting showed that IFN‐γ had a positive causal association with the risk of SLE (odd ratio [OR] = 1.24, 95% confidence interval [CI]: 1.03–1.47, p = 0.018). IFN‐γR2 levels were not associated with SLE risk after adjustment for multiple comparisons (OR = 0.85, 95% CI: 0.73–0.99, p = 0.034). No genetic association was also detected between IFN‐γR1 and SLE (OR = 0.97, 95% CI: 0.79–1.19, p = 0.768). Evidence from bidirectional MR did not support reverse causality. The weighted median regression also showed directionally similar estimates.ConclusionHigher levels of IFN‐γ are significantly associated with an increased risk of SLE, providing insights into the pathogenesis of SLE.

Coexisting RET/PTC and TERT Promoter Mutation Predict Poor Prognosis but Effective RET and MEK Targets in Thyroid Cancer.

To investigate the role of coexisting RET/PTC rearrangement and TERT promoter mutation in the prognosis and therapeutic targeting in papillary thyroid cancer (PTC). A total of 669 PTC patients with complete clinical follow-up and genetic data were pooled from thyroid cancer datasets TCGA, MSK MetTropism, and MSK-IMPACT, from whom 163 patients (112 women and 47 men, 4 unknown) with wild-type BRAF/RAS were identified, with median age (IQR) of 46.00 (33.00, 61.00) years and median follow-up time (IQR) of 16.13 (8.09, 27.91) months for comparative genotype cohort analysis of mortality. There was a significant concurrence index between RET/PTC and TERT promoter mutations, being 2.040 (95% CI 1.110-3.747, P = 0.023). Mortality occurred in 5/100 (5%) patients harboring neither mutation, 2/18 (11.1%) patients harboring TERT promoter mutation alone, 0/31 (0%) patients harboring RET/PTC alone, and 7/14 (50%) patients harboring both genetic alterations, corresponding to HRs (95% CI) of 1 (Reference), 2.469 (0.405-14.02), 3.296e-09 (0-inf), and 9.019 (2.635-30.87), respectively, which remained essentially unchanged after adjustment for patient race, sex, and age. Similar results were observed with BRAF/RAS and TERT promoter mutations. Mechanistically, RET/PTC used the MAP kinase pathway to upregulate the mutated TERT, but not the wild-type TERT, and, correspondingly, targeting RET and MEK could suppress mutated TERT but not the wild-type TERT. Coexisting RET/PTC and TERT promoter mutation identify PTC as a unique clinical entity with high mortality, providing new implications for genetic-based prognostication and potential therapeutic targeting of RET and MEK guided by RET/PTC and TERT status.

Genetic Variability and Correlation Studies in Chilli (Capsicum annuum L.) Under Agro-Climatic Condition of Prayagraj

The present study assesses the extent of genetic variability and correlation in 12 different genotypes of chillies for various compositional and yield properties for identifying predominant genotypes for involvement in coming breeding programs. One of India's most significant crops for both vegetables and spices is the chilli. In the world, India is the top producer of dried chili. Around the world, people utilize chilli as a spice and to make drinks and medications. Since the beginning of time, curry has been an essential component of Indian cuisine. The field trial was conducted from December 2022 to June 2023 at the Horticulture Research Farm, Department of Horticulture, Naini Agricultural Institute, Sam Higginbottom University of Agriculture, Technology and Sciences, Prayagraj (U.P.), India. There is a great need and opportunity to assess and create location-specific cultivars with increased production potential. Twelve distinct genotypes of chillies were gathered from various regions of India for this inquiry in order to examine how well they performed in the Prayagraj agroclimatic conditions. The genetic data on yield and attributes associated with yield would be useful in developing a productive breeding program to enhance the chilli crop and create genotypes and hybrids that show promise.

Causal inference between pernicious anemia and cancers: a bidirectional two-sample mendelian randomization analysis

BackgroundObservational study investigated the association between pernicious anemia (PA) and cancers. However, with the exception of gastric cancer, the results are mostly contradictory. The purpose of this study was to investigate the potential causal relationship between PA and cancers through bidirectional two-sample Mendelian randomized (MR) analysis.MethodsThe European sample FinnGen project provided the genetic summary data for PA and 20 site-specific cancers. This bidirectional two-sample MR design mainly used the inverse variance weighting (IVW) method to evaluate the causal relationship between PA and cancer risk. Benjamini-Hochberg correction was performed to reduce the bias caused by multiple tests.ResultsOur study shows that there was a causal relationship between PA and gastric cancer, prostate cancer, testicular cancer and malignant melanoma of skin, and there was a reverse causal relationship between prostate cancer or gastric cancer and PA (P < 0.05). After Benjamini-Hochberg correction test, there was still a causal correlation between PA and gastric or prostate cancer (P’ < 0.05), while there was only an implied causal association between PA and testicular cancer and malignant melanoma of skin (P’> 0.05). There was still a reverse causal relationship between gastric cancer and PA (P‘< 0.05), while prostate cancer shows an implied reverse causal relationship(P’> 0.05). In addition, MR-Egger and MR-PRESSO tests showed no significant horizontal pleiotropy.ConclusionsPA may be genetically associated with testicular cancer, prostate cancer, gastric cancer, and malignant melanoma of skin.

A knot of hybrids: Differentiating Asian knotweeds in North‐Eastern France using genetic, cytological, and morphological data

AbstractThe two invasive Reynoutria species, Reynoutria japonica var. japonica and Reynoutria sachalinensis, and their hybrid Reynoutria x bohemica are often misidentified by managers and nonspecialists. The taxonomic confusions are all the more exacerbated by the infraspecific variability of introduced populations in terms of morphology, genetic diversity, and ploidy level. We resolved the identity of North‐Eastern French invasive populations using 4582 single‐nucleotide polymorphisms (SNPs) from a RADseq analysis, DNA contents estimated by flow cytometry, and 12 vegetative morphometric variables. The SNPs supported only one single genotype for R. japonica over 11 localities, while the nine localities of Reynoutria x bohemica were represented by one genotype each. Estimation of genome size using DAPI staining and flow cytometry revealed only octoploid cytotypes for R. japonica and hexaploid cytotypes for R. x bohemica, whereas R. sachalinensis was represented by tetraploid and hexaploid cytotypes. Among morphometric variables, no single one allows for a clear differentiation of the three taxa. We propose a combination of characters to easily and quickly identify these three invasive taxa based on six vegetative criteria including leaf and apex length, as well as leaf shape, leaf base, and apex shape, and the extrafloral nectaries on the node.

Volatile Profiles and DNA Barcodes of Myrtaceae species with Occurrence in the Brazilian Amazon.

Myrtaceae family includes many species with taxonomic challenges, making it one of the most complex families to identify. This study used DNA barcoding to find molecular markers for species authentication based on the Myrtaceae family's chemical composition and genetic diversity. Essential oils and genetic material were extracted from the leaves of six different species:Eugenia uniflora,E. patrisii,Myrcia splendens,Psidium guajava,P. guineense, andPsidiumsp. The samples were analyzed based on compound classes and grouped into two categories. Group I included samples with high amounts of oxygenated sesquiterpenes (3.69-76.05%) and fatty acid derivatives (0.04-43.59%), such asE. uniflora,Myrcia splendens, andE. patrisii. Group II included samplesP. guajava,P. guineense, andPsidiumsp., which had a significant content of monoterpene hydrocarbons (0.69-72.35%), oxygenated sesquiterpenes (8.06-68.1%), phenylpropanoids (0.45-22.59%), and sesquiterpene hydrocarbons (0.27-21.84%). ThePsbA-trnHgene sequences had a high genetic variability, allowing the species to be distinguished. A phylogenetic analysis showed two main clusters with high Bootstrap values corresponding to the subtribes Eugeniineae, Myrciinae, and Pimentinae. The results suggest a weak correlation between genetic and chemical data in these Myrtaceae species.

Environmentally associated colour divergence does not coincide with population structure across Lesser Antillean anoles

Abstract Species distributed across heterogeneous environments may undergo local adaptation, which can be limited by the homogenizing effects of gene flow. Lesser Antillean anoles exhibit dorsal colour variation associated with dramatic shifts in environment across small spatial scales, providing an excellent system for studying the maintenance of local adaptation despite ongoing gene flow. The 1995 Soufriere Hills eruption on Montserrat provides an opportunity to understand how natural disasters may influence the evolution of insular species. Thus, our study had two main objectives. First, we collected genetic, phenotypic, and environmental data to investigate whether environmentally associated dorsal coloration reflects underlying population structure in three species of Lesser Antillean anoles. Second, we examined the short-term evolutionary consequences of volcanism by comparing pre- and posteruption samples of Anolis lividus using multilocus sequence data. We found all three species exhibited genetic isolation-by-distance but not isolation-by-environment. Furthermore, phenotypic differences within each species were not predicted by genetic distances, suggesting gene flow across colour morphs. We confirmed the repopulation of A. lividus in the impacted area and found genetic diversity equivalent to pre-eruption sampling. Our findings contribute to our understanding of local adaptation in spatially small-scale systems and the impact of catastrophic natural disasters on population structure.

Large-scale lexical and genetic alignment supports a hybrid model of Han Chinese demic and cultural diffusions.

The Han Chinese history is shaped by substantial demographic activities and sociocultural transmissions. However, it remains challenging to assess the contributions of demic and cultural diffusion to Han culture and language, primarily due to the lack of rigorous examination of genetic-linguistic congruence. Here we digitized a large-scale linguistic inventory comprising 1,018 lexical traits across 926 dialect varieties. Using phylogenetic analysis and admixture inference, we revealed a north-south gradient of lexical differences that probably resulted from historical migrations. Furthermore, we quantified extensive horizontal language transfers and pinpointed central China as a dialectal melting pot. Integrating genetic data from 30,408 Han Chinese individuals, we compared the lexical and genetic landscapes across 26 provinces. Our results support a hybrid model where demic diffusion predominantly impacts central China, while cultural diffusion and language assimilation occur in southwestern and coastal regions, respectively. This interdisciplinary study sheds light on the complex social-genetic history of the Han Chinese.

Extension of the geographical range of the primary burrowing crayfish Cambarus strigosus Hobbs, 1981 (Decapoda: Astacidea: Cambaridae) in South Carolina

Abstract Knowledge of the geographical distribution for many primary burrowing crayfishes is often limited to information presented in species descriptions or field notes associated with epigean crayfish surveys. Cambarus strigosusHobbs, 1981, a rare primary burrowing crayfish, was collected as part of a survey of the Sumter National Forest, South Carolina (SC), USA. Prior to this discovery, C. strigosus appeared to be endemic to mid-reaches of the Broad River Drainage in Georgia (GA). We conducted additional field sampling in SC and GA and used mitochondrial DNA (mtDNA) to compare the relative genetic distance between individuals across all populations in an effort to determine the identity of the specimens collected. Genetic data indicated that the crayfish collected in SC was C. strigosus, with one shared haplotype between SC and GA populations. Our genetic results exhibited geographic structuring and indicated that SC populations have a specific haplotype unique to them, providing strong evidence that SC populations are not introduced. Two additional SC records of C. strigosus from 1983 housed in the US National Museum were examined and determined to be C. strigosus. With these records, we hypothesized that like in GA, the distribution of C. strigosus in SC is limited to riparian habitats associated with the Savannah River Drainage. While the range of this species has been extended, it is still limited to small portions of this drainage. Thus, further sampling to determine the true extent of C. strigosus distribution within SC along with conservation efforts are needed to protect this globally rare species.

Uterine leiomyoma causes an increase in systolic blood pressure: a two-sample Mendelian randomization study

ObjectivesHypertension and hypertensive disorders of pregnancy (HDP) are common diseases in women at different stages, which affect women’s physical and mental health, and the impact of the latter on the offspring cannot not be ignored. Observational studies have investigated the correlation between uterine leiomyoma (UL) and the above conditions, but the relationship remains unclear. In this study, we employed two-sample Mendelian randomization (MR) analysis to assess the association between UL and hypertension, HDP, as well as blood pressure.MethodsWe collected genetic association data of UL (35,474 cases), hypertension (129,909 cases), HDP (gestational hypertension with 8,502 cases, pre-eclampsia with 6,663 cases and eclampsia with 452cases), systolic blood pressure (SBP) and diastolic blood pressure (DBP) (both 757,601 participants) from published available genome-wide association studies (GWAS). The single nucleotide polymorphisms (SNPs) associated with UL phenotype were used as instrumental variables, and hypertension, three sub-types of HDP, SBP and DBP were used as outcomes. The inverse-variance weighted (IVW) method was employed as the primary method of causal inference. Heterogeneity was assessed using Cochran’s Q test, and sensitivity analyses were conducted using MR-Egger regression and MR pleiotropy residual sum and outlier (MR-PRESSO) tests to evaluate the pleiotropy of instrumental variables. PhenoScanner search was used to remove confounding SNP. Robustness and reliability of the results were assessed using methods such as the weighted median and weighted mode.ResultsThe IVW analysis revealed a positive correlation between genetically predicted UL and SBP [odds ratio (OR)= 1.67, 95% confidence interval (CI):1.24~2.25, P = 0.0007], and no statistical association was found between UL and hypertension, HDP, or DBP. The MR-Egger regression suggested that the above causal relationships were not affected by horizontal pleiotropy. The weighted median method and weighted model produced similar results to the IVW.ConclusionBased on large-scale population GWAS data, our MR analysis suggested a causal relationship between UL and SBP. Therefore, women with UL, especially pregnant women, should pay attention to monitoring their blood pressure levels. For patients with hypertension who already have UL, interventions for UL may serve as potential therapeutic methods for managing blood pressure.