A genetic history of migration, diversification, and admixture in Asia

L.L. Cavalli-Sforza spearheaded early efforts to study the genetic history of humans, recognizing the importance of sampling diverse populations worldwide. He supported research on human evolutionary genetics in Asia, with research on human dispersal into Asia and genetic distances between present-day East Asians in the late 20th century. Since then, great strides have been made in understanding the genetic history of humans in Asia, through large-scale genomic sequencing of present-day humans and targeted sequencing of DNA from ancient humans. In this review, I survey the genetic prehistory of humans in Asia, based on research using sequence data from humans who lived in Asia as early as 45,000 years ago. Genetic studies comparing present-day Australasians and Asians show that they likely derived from a single dispersal out of Africa, rapidly differentiating into three main lineages: one that persists partially in South Asia, one that is primarily found today in Australasia, and one that is widely represented across Siberia, East Asia, and Southeast Asia. Studies of ancient DNA from human remains in Asia dating from as far back as 45,000 years has greatly increased our understanding of the population dynamics leading to the current Asian populations. Based on "Jin L, Underhill PA, Doctor V, Davis RW, Shen P, Cavalli-Sforza LL, Oefner PJ. Distribution of haplotypes from a chromosome 21 region distinguishes multiple prehistoric human migrations. Proc Natl Acad Sci U S A. 1999;96(7):3796-3800”.

Investigation On Psychological Status of Patients With Cervical Precancerous Lesions And Cancer Among Han And Ethnic Minority In Yunnan Province of China

Objective The aim of this study was to explore the correlation and difference of influencing factors by analyzing the psychological status of patients with cervical precancerous lesions and cancer in Han and Ethnic minorities. So as to provide evidence for more targeted psychological intervention for categories types of patients. Methods 200 Han patients with cervical lesions and 100 Ethnic minority patients in Yunnan cancer center were investigated with the Chinese version of Kessler 10 Scale. Statistical analysis was performed using t-test, analysis of variance, and multivariable linear regression. Results There was no significant difference in the distribution of demographic characteristics between the two groups (P>0.05).The results of univariate analysis showed that the impression of K10 score was statistically significant among the following factors: educational level, awareness of HPV vaccine, disease screening status, employee medical insurance, economic burden of disease, cancerous or not, pathological type, treatment modalities, marital status, and family genetic history of tumor (P<0.05).Among them, the marital status had opposite effects on the two groups of patients. The mean score of married Han patients were higher than those of Han patients with other marital status, but the score of Ethnic minority patients the opposite. Multivariate analysis indicates that the economic burden of the disease, occupation, and family genetic history of tumor had a greater impact on the total score of Han patients among many factors, accounting for a total of 8.1% (Adj=0.081).Treatment modalities had the greatest effect on the scores of ethnic minority patients, accounting for 8.4%(Adj=0.084). Conclusion The factors affecting the psychological status of patients between the two groups have similarities and differences. Multifactorial analysis showed that the main factors affecting the psychology of Han patients were: economic burden caused by the disease, occupation, and family genetic history of tumor; while the main factors affecting the psychology of minority patients were: treatment modalities. Therefore, targeted recommendations and policy measures can be proposed respectively. We should not only increase the publicity of disease-related knowledge, but also call on all women to receive vaccines and regular screening of women in the high incidence age group. It is also necessary to positively guide patients with higher education level and give more encouragement and spiritual support to patients with family genetic history of tumor and heavy economic burden of the disease. The effect of marital relationship on patients cannot be neglected at the same time. More targeted psychological intervention and more favorable treatment modalities should be provided for patients.

Coalescent tree recording with selection for fast forward-in-time simulations

Forward simulations are increasingly important in evolutionary genetics to simulate selection with realistic demography, mating systems and ecology. To reach the performance needed for genome-wide simulations a number of new simulation techniques have been developed recently. Kelleher et al. (2018) introduced a technique consisting in recording the entire genetic history of the population and placing mutations on the coalescent tree. This method cannot model selection. I recently introduced a simulation technique that speed up fitness calculation by assuming that fitness effects among haplotypes are multiplicative (Matthey-Doret, 2021). More precisely, fitness measures are stored for subsets of the genome and, at time of reproduction, if no recombination happen within a given subset, then the fitness for this subset for the offspring haplotype is directly inferred from the parental haplotype. Here, I present a hybrid of the above two techniques. The algorithm records the genetic history of a species, directly places the mutations on the tree and infers fitness of subsets of the genome from parental haplotypes. At recombinant sites, the algorithm explores the tree to reconstruct the genetic data at the recombining segment. I benchmarked this new technique implemented in SimBit and report an important improvement of performance compared to previous techniques to simulate selection. This improvement is particularly drastic at low recombination rate. Such developments of new simulation techniques are pushing the horizon of the realism with which we can simulate species molecular evolution.

Diverse northern Asian and Jomon-related genetic structure discovered among socially complex Three Kingdoms period Gaya region Koreans

The genetic history of prehistoric and protohistoric Korean populations is not well understood due to the lack of ancient Korean genomes. Here, we report the first paleogenomic data from Korea; eight shotgun-sequenced genomes (0.7X~6.1X coverage) from two archeological sites in Gimhae: Yuha-ri shell mound and Daesung-dong tumuli, the most important funerary complex of the Gaya confederacy. All eight individuals are from the Korean Three Kingdoms period (4th-7th century CE), during which there is archaeological evidence of extensive trade connections with both northern (modern-day China) and eastern (modern-day Japan) kingdoms. All genomes are best modeled as an admixture between a northern-Chinese Iron Age genetic source and a Japanese-Jomon-related ancestry. The proportion of Jomon-related ancestry suggests the presence of two genetic groups within the population. The observed substructure indicates diversity among the Gaya population that is not related to either social status or sex.

IMPULSIVITY AND SELF-HARM BEHAVIOR IN YOUNG ADULT WOMAN WITH AUTHORITATIAN PARENTING: A CASE REPORT

Authoritarian parenting is a risk factor for impulsive behavior and children's self-efficacy. The maladaptive behavior of a teenager is influenced by many factors, including parenting, family and friendships. This can cause various psychological problems. In this case, we had report woman (21 y.o) with impulsive behavior and selfharm turned out to have authoritarian parenting and a genetic history. Data were taken from interviews and mental status examinations in psychiatric clinics, then a literature review was carried out. Result revealed that permissive and authoritarian parenting styles lead to personality disorder. Authoritarian parenting has a negative impact on the adaptation of behavior and personality of children in adolescence and can persist into adulthood if not handled properly. In addition to parenting, genetics and the environment also influence adolescence

HUBUNGAN AKTIVITAS FISIK DAN RIWAYAT GENETIK DENGAN KADAR ASAM URAT DI POSYANDU CINTA LANSIA

Adding age causes some changes both physically and mentally. These changes affect a person's condition both psychological, physiological, and socio-economic aspects and experience various complaints and health problems such as increased uric acid levels in the blood (hyperuricemia). This study aims to determine the relationship between physical activity and genetic history with uric acid levels at the Cinta Lansia Banguntapan Bantul posyandu. The research design was a survey analysis with a case control study design. The research sample was 34 elderly using purposive sampling. Collecting data using the PAL form and data analysis using the Chi - Square test. The results of this study showed that those corelated with gout in the elderly were physical activity (P value = 0.007, OR = 15.00) and genetic history (P value = 0.004, OR = 10.714). It is recommended for elderly posyandu cadres to improve the elderly exercise program and strive for health promotion in the community related to gout and its prevention.

Metabolic landscapes in sarcomas

Metabolic rewiring offers novel therapeutic opportunities in cancer. Until recently, there was scant information regarding soft tissue sarcomas, due to their heterogeneous tissue origin, histological definition and underlying genetic history. Novel large-scale genomic and metabolomics approaches are now helping stratify their physiopathology. In this review, we show how various genetic alterations skew activation pathways and orient metabolic rewiring in sarcomas. We provide an update on the contribution of newly described mechanisms of metabolic regulation. We underscore mechanisms that are relevant to sarcomagenesis or shared with other cancers. We then discuss how diverse metabolic landscapes condition the tumor microenvironment, anti-sarcoma immune responses and prognosis. Finally, we review current attempts to control sarcoma growth using metabolite-targeting drugs.

Correlation between Family RB1 Gene Pathogenic Variant with Clinical Features and Prognosis of Retinoblastoma under 5 Years Old

Retinoblastoma (RB) is the most common primary intraocular malignant tumor in infants and the prototype of human hereditary tumors. Its occurrence and development are closely related to the pathogenic variant of tumor suppressor RB1 gene. We aim to analyze the characteristics of RB1 gene pathogenic variant and clinical phenotype in retinoblastoma patients and their relatives. Children with RB were recruited from August 2007 to November 2017. QT-PCR, probing, and gene sequencing were used to analyze the sequence of RB1 gene in RB children, their parents, or grandparents with a clear history of illness. The SPSS20.0 software was used to analyze the correlation between polymorphisms of RB1 gene and the incidence and prognosis of the enrolled children and relatives. 40 RB children (20 males and 20 females) were recruited, unilateral RB accounted for 52.5% (21/40), bilateral RB accounted for 42.5% (17/40), and trilateral RB accounted for 5.0% (2/40). 6 patients had a clear family history (15.0%, 6/40). It had been verified that 19 probands (47.5%) have RB1 gene pathogenic variants (11 frameshift and 8 missense pathogenic variants), of which germline inheritance accounted for 47.4% (9/19) and nongermline heredity accounted for 52.6% (10/19). Pathogenic variants of 10 nucleic acid sites without reported were found, among which c.2455C>G (p.L819V) was confirmed to have heterozygous pathogenic variants in both a bilateral RB patient and his mother with unilateral RB. Family genetic high-risk factors, bilateral/trilateral RB, >12-month-onset RB have a higher proportion of RB1 gene pathogenic variant than children with no family history, unilateral RB, and ≤12-month ( P = 0.021 , 0.001,0.034). The proportion of pedigree inheritance of infantile retinoblastoma with bilateral disease is high. There was a certain proportion of RB1 gene pathogenic variant in 3-5-year-old children with bilateral RB, even if they had no family genetic history. Therefore, the detection of RB1 gene pathogenic variant should not only focus on infants but also on the phenotype of RB1 gene pathogenic variant in children over 3 years old with bilateral eye disease.