The Association between Obesity Susceptibility and Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans.

Background: A high-altitude environment has inhibitory effects on obesity. Tibetans are not a high-risk population for obesity, but there are still obese individuals within that population. Obesity has become a worldwide health problem, and previous studies have found that obesity is closely associated with hereditary factors. Few studies have investigated obesity in Tibetans, and the association between gene polymorphisms and obesity in Tibetans remains unclear. Methods: Our study investigated the fat mass of 140 native Tibetan individuals (70 men and 70 women) from Lhasa and analyzed the associations between polymorphisms of melanocortin 4 receptor (MC4R), Src homology 2B adapter protein 1 (SH2B1), and neuronal growth regulator 1 (NEGR1) and obesity. Result: Among Tibetan individuals, there were differences in genotype and allele frequencies between those in the obesity group and those in the healthy group at MC4R (rs17782313) and SH2B1 (rs7359397). The polymorphisms of MC4R (rs17782313) were associated with fat mass and obesity in Tibetan men and women, and there was an association between SH2B1 (rs7359397) polymorphisms and fat mass and obesity in Tibetan men. However, polymorphisms of NEGR1 (rs3101336) were not associated with fat mass or obesity in Tibetan individuals. Conclusion: Among Tibetan individuals, polymorphisms of MC4R (rs17782313) and SH2B1 (rs7359397) were associated with obesity, but NEGR1 (rs3101336) polymorphisms were not associated with obesity.

Alterations in the diversity, composition and function of the gut microbiota in Uyghur individuals with sarcopenia.

BACKGROUND: Research on the gut microbiota has emerged as a new direction for understanding pathophysiologic changes in diseases associated with aging, such as sarcopenia. Several studies have shown that there are differences in the gut microbiota between individuals with sarcopenia and without sarcopenia. However, these differences are not consistent across regions and ethnic groups, and additional research is needed. METHODS: In this study, we collected fresh fecal samples from 31 Uyghur individuals with sarcopenia and 31 healthy controls. We used 16S rRNA sequencing to obtain fecal base sequences and analyzed the diversity, composition and function of the gut microbiota. RESULTS: There was no significant difference in alpha diversity between the sarcopenia group and the healthy control group (P > 0.05). There was a significant difference in beta diversity between the groups (P < 0.05). In the sarcopenia group, the abundances of Alloprevotella, un_f_Prevotellaceae, Anaerovibrio, Prevotellaceae_NK3B31_group, Mitsuokella, Prevotella and Allisonella were lower than those in the heathy control group, and the abundances of Flavobacteriales, Flavobacteriaceae, Catenibacterium, Romboutsia, Erysipelotrichaceae_UCG-003, GCA-900066575, Lachnospiraceae_FCS020_group, and un_f_Flavobacteriaceae were higher than those in the heathy control group. Linear discriminant analysis effect size (LEfSe) revealed that the microbial species in the control group that were significantly different from those in the sarcopenia group were concentrated in the genus Alloprevotella, while the species in the sarcopenia group were concentrated in the genus Catenibacterium. Functional prediction analysis revealed that D-alanine, glycine, serine, and threonine metabolism and transcription machinery, among others, were enriched in the sarcopenia group, which indicated that metabolic pathways related to amino acid metabolism and nutrient transport may be regulated to varying degrees in the pathophysiological context of sarcopenia. CONCLUSIONS: There were significant differences in the composition and function of the gut microbiota between Xinjiang Uyghur sarcopenia individuals and healthy individuals. These findings might aid in the development of probiotics or microbial-based therapies for sarcopenia in Uyhur individuals.

Whole mitochondrial genome analysis in highland Tibetans: further matrilineal genetic structure exploration.

Introduction: The Qinghai-Tibet Plateau is one of the last terrestrial environments conquered by modern humans. Tibetans are among the few high-altitude settlers in the world, and understanding the genetic profile of Tibetans plays a pivotal role in studies of anthropology, genetics, and archaeology. Methods: In this study, we investigated the maternal genetic landscape of Tibetans based on the whole mitochondrial genome collected from 145 unrelated native Lhasa Tibetans. Molecular diversity indices, haplotype diversity (HD), Tajima's D and Fu's Fs were calculated and the Bayesian Skyline Plot was obtained to determining the genetic profile and population fluctuation of Lhasa Tibetans. To further explore the genetic structure of Lhasa Tibetans, we collected 107 East Asian reference populations to perform principal component analysis (PCA), multidimensional scaling (MDS), calculated Fst values and constructed phylogenetic tree. Results: The maternal genetic landscape of Tibetans showed obvious East Asian characteristics, M9a (28.28%), R (11.03%), F1 (12.41%), D4 (9.66%), N (6.21%), and M62 (4.14%) were the dominant haplogroups. The results of PCA, MDS, Fst and phylogenetic tree were consistent: Lhasa Tibetans clustered with other highland Tibeto-Burman speakers, there was obvious genetic homogeneity of Tibetans in Xizang, and genetic similarity between Tibetans and northern Han people and geographically adjacent populations was found. In addition, specific maternal lineages of Tibetans also be determined in this study. Discussion: In general, this study further shed light on long-time matrilineal continuity on the Tibetan Plateau and the genetic connection between Tibetans and millet famers in the Yellow River Basin, and further revealed that multiple waves of population interaction and admixture during different historical periods between lowland and highland populations shaped the maternal genetic profile of Tibetans.

Normative reference data for body composition in healthy indigenous populations on the Qinghai-Tibet Plateau.

Body composition represents an important aspect of physical fitness and has received increasing attention in recent years. The present study was designed and conducted to provide reference values for age-, sex-, and altitude-specific body composition for healthy indigenous Tibetan adults living on the Qinghai-Tibet Plateau, which has not yet been studied. A cross-sectional survey was conducted among 2,356 healthy Tibetan adults (1,433 females and 923 males) living on the Qinghai-Tibet Plateau for generations. The body composition of the participants was measured by bioelectrical impedance analysis (BIA). The measurements included weight, basal metabolic rate (BMR), fat-free mass (FFM), skeletal muscle mass (SMM), protein mass (PM), bone mass (BM), fat mass (FM), percentage of body fat (PBF), subcutaneous fat mass (SFM), visceral fat mass (VFM), total body water (TBW), intracellular water (ICW), and extracellular water (ECW). Overall, males had greater FFM, SMM, PM, BM, and water mass, whereas females were high in fat mass. Participants from plains generally had higher body composition values, and PM, BM, FM and body water values decreased with increasing altitude, with the lowest values found in >4,000 m Shigatse. FFM, SMM, PM, and BM tended to decrease with increasing age, whereas fat mass and ECW tended to increase with increasing age. This study provides the first normative reference data of body composition for healthy indigenous individuals on the Qinghai-Tibet Plateau. These datasets are important for future research related to body composition. A considerable decrease in body composition values in > 4,000 m-altitude areas suggested that body composition cutoff values should be established by altitude. Age-, sex-, and altitude-specific alterations in body composition values also inform the prevention and amendment of abnormal body composition changes and resultant health complications.

Genomic insights into the genetic structure and population history of Mongolians in Liaoning Province.

The Mongolian population exceeds six million and is the largest population among the Mongolic speakers in China. However, the genetic structure and admixture history of the Mongolians are still unclear due to the limited number of samples and lower coverage of single-nucleotide polymorphism (SNP). In this study, we genotyped genome-wide data of over 700,000 SNPs in 38 Mongolian individuals from Fuxin in Liaoning Province to explore the genetic structure and population history based on typical and advanced population genetic analysis methods [principal component analysis (PCA), admixture, FST, f 3 -statistics, f 4 -statistics, qpAdm/qpWave, qpGraph, ALDER, and TreeMix]. We found that Fuxin Mongolians had a close genetic relationship with Han people, northern Mongolians, other Mongolic speakers, and Tungusic speakers in East Asia. Also, we found that Neolithic millet farmers in the Yellow River Basin and West Liao River Basin and Neolithic hunter-gatherers in the Mongolian Plateau and Amur River Basin were the dominant ancestral sources, and there were additional gene flows related to Eurasian Steppe pastoralists and Neolithic Iranian farmers in the gene pool of Fuxin Mongolians. These results shed light on dynamic demographic history, complex population admixture, and multiple sources of genetic diversity in Fuxin Mongolians.

Genomic Insight Into the Population Admixture History of Tungusic-Speaking Manchu People in Northeast China.

Manchu is the third-largest ethnic minority in China and has the largest population size among the Tungusic-speaking groups. However, the genetic origin and admixture history of the Manchu people are far from clear due to the sparse sampling and a limited number of markers genotyped. Here, we provided the first batch of genome-wide data of genotyping approximate 700,000 single-nucleotide polymorphisms (SNPs) in 93 Manchu individuals collected from northeast China. We merged the newly generated data with data of publicly available modern and ancient East Asians to comprehensively characterize the genetic diversity and fine-scale population structure, as well as explore the genetic origin and admixture history of northern Chinese Manchus. We applied both descriptive methods of ADMIXTURE, fineSTRUCTURE, F ST , TreeMix, identity by decedent (IBD), principal component analysis (PCA), and qualitative f-statistics (f 3, f 4, qpAdm, and qpWave). We found that Liaoning Manchus have a close genetic relationship and significant admixture signal with northern Han Chinese, which is in line with the cluster patterns in the haplotype-based results. Additionally, the qpAdm-based admixture models showed that modern Manchu people were formed as major ancestry related to Yellow River farmers and minor ancestry linked to ancient populations from Amur River Bain, or others. In summary, the northeastern Chinese Manchu people in Liaoning were an exception to the coherent genetic structure of Tungusic-speaking populations, probably due to the large-scale population migrations and genetic admixtures in the past few hundred years.

The association between sarcopenia susceptibility and polymorphisms of FTO, ACVR2B, and IRS1 in Tibetans.

BACKGROUND: Hypoxia within the plateau has a negative effect on skeletal muscle and may play a role in the development of sarcopenia in humans. Tibetans having lived in the Qinghai-Tibet Plateau for thousands of years, are a high-risk group for sarcopenia; however, they have a distinctive suite of genetic traits that enable them to tolerate environmental hypoxia and are genetically significantly different from Han Chinese and other lowland populations. Sarcopenia has been consistently found to be associated with single-nucleotide polymorphisms, but few studies have investigated the role of single-nucleotide polymorphisms in a range of muscle phenotypes and sarcopenia in Tibetan peoples. METHODS: Our study aimed to investigate the skeletal muscle mass and fat mass of 160 Tibetans (80 men and 80 women) from Lhasa (altitude of 3600 meters) and analyze the association between the polymorphisms of fat mass and obesity protein (FTO) rs9939609, FTO rs9936385, activin type IIB receptor (ACVR2B) rs2276541, insulin receptor substrate 1 (IRS1) 2943656 and sarcopenia. RESULT: FTO rs9939609 and rs9936385 polymorphisms were associated with lower limb skeletal muscle mass and sarcopenia for Tibetan women, and TT homozygotes had a higher risk for sarcopenia. But ACVR2B rs2276541 and IRS1 2943656 polymorphisms were unassociated with sarcopenia in Tibetan. CONCLUSION: In Tibetans, FTO rs9939609 and rs9936385 polymorphisms were associated with sarcopenia, and ACVR2B rs2276541 and IRS1 2943656 polymorphisms were unassociated with sarcopenia.

Obesity and Heath-Carter Somatotyping of 3438 Adults in the Xinjiang Uygur Autonomous Region of China by Multivariate Analysis.

INTRODUCTION: This study aimed to investigate the somatotype and obesity of adults in the Xinjiang Uygur Autonomous Region of China and to explore multivariate path analysis for the feasibility and scientificity of using somatotypes to evaluate obesity. SUBJECTS AND METHODS: According to anthropometric methods, a cross-sectional study was performed on 10 indexes of 3438 adults (1690 men and 1748 women, aged > 20 years) living in the Xinjiang Uygur Autonomous Region of China (including Kazakh, Kyrgyz, Xibe, Uzbek, Tatar and Tajik). The Heath-Carter anthropometric method and body mass index (BMI) were used to evaluate somatotype and obesity, respectively. The feasibility and scientificity of using somatotypes to evaluate obesity were analysed by correspondence analysis. RESULTS: Among the six populations, the somatotypes were mainly distributed as endomorphic mesomorph, mesomorph-endomorph and mesomorphic endomorph populations, accounting for 66.5% of males and 78.8% of females. The obesity rate (27.4% in males, 27.8% in females) of the six populations in the Xinjiang Uygur Autonomous Region of China was much higher than the average Chinese adult obesity rate (12.1%) and the global adult obesity rate (male: 11%, female: 15%). The distribution of BMI was significantly different (male: P=0.000, female: P=0.033) in different populations, and the incidence of overweight and obesity in the Xinjiang Uygur Autonomous Region of China increased gradually. This study found that there were significant differences in somatotype distribution among different obesity groups in the Xinjiang Uygur Autonomous Region of China (P=0.000). There was a strong correlation between overweight or obesity and endomorph-mesomorph, endomorphic mesomorph and mesomorphic endomorph. Furthermore, this study indicated that using somatotypes to evaluate obesity was reliable and scientific. CONCLUSION: This study concluded that the somatotype of overweight or obese people was mainly related to endomorphic mesomorph, mesomorph-endomorph, and mesomorphic endomorph.

Diagnostic reference values for sarcopenia in Tibetans in China.

Sarcopenia is an age-associated disease characterized by loss of muscle mass and function, but the diagnostic cutoff values remain controversial. To investigate the diagnostic cutoff values and incidence of sarcopenia in a plateau population, the limb skeletal muscle mass, gait speed and grip strength of 2318 Tibetan adults were measured according to the criteria of the Asian Working Group for Sarcopenia. We found that the diagnostic reference values for sarcopenia in the high-altitude population were significantly lower than those in the plain population, and the incidences of sarcopenia in the high-altitude population over 60 years old were 17.2% in men and 36.0% in women, which were significantly higher than those in the plain population. Our study proposes reference values for the diagnosis of sarcopenia in Tibet. We suggest that the cutoff value for sarcopenia in the plateau population should be established based on altitude. Hypoxia may be an important risk factor for sarcopenia.

Locomotive function and quality of life among older people in Liaoning, China: Falls efficacy as mediator or moderator?

OBJECTIVES: This study aimed to examine the role of falls efficacy in the relationship between the locomotive function and quality of life. METHODS: From March to May in 2016, we conducted a cross-sectional survey among 830 community residents aged ≥60 years from Jinzhou,China.GLFS-25 (25-question Geriatric Locomotive Function Scale), FES-I(International edition of Falls Efficacy Scale),and SF-12 (12-item Short Form Health Survey) were used to estimate locomotive function, falls efficacy and quality of life, respectively. The higher score of GLFS-25, the worse the locomotive function. RESULTS: Median age was 68.69 years (ranges 60-88). Locomotive function, falls efficacy and quality of life all presented a linear relationship within each other, locomotive function score was negatively correlated with falls efficacy score (-0.461, P < 0.01). locomotive function score was negatively correlated with quality of life score (-0.523, P < 0.01).Falls efficacy score was positively correlated with quality of life score (0.415, P < 0.01).Falls efficacy exerted both a mediating and moderating role between locomotive function and quality of life, and the mediation effect accounted for 45.5% of the total effect. CONCLUSIONS: Poorer locomotive function was associated with poorer quality of life, and greater falls efficacy was associated with better quality of life. In addition, falls efficacy was demonstrated to be both a mediator and moderator variable in the linkage between locomotive function and quality of life. Aged care professional practitioners and our policy makers should strengthen the awareness of the psychological role of the elderly falls efficacy.

Estimation of stature by using the dimensions of the right hand and right foot in Han Chinese adults.

The Han Chinese people are the main ethnic group in China and the largest ethnic group in the world. The dimensions of the hands and feet have been successfully used for the estimation of stature. A total of 26,927 healthy adult subjects, comprising 13,221 men and 13,706 women, were recruited. The survey samples were chosen through random cluster sampling. The mean values were significantly higher in men than those in women for all measurements (P<0.001). All the measurements showed a statistically significant correlation with stature (P<0.01). The combination of the right hand length and the right foot length was the best predictor of stature because it had the lowest standard error of estimate. The use of multiple regression equations yielded better results than did the use of linear regression equations. The accuracy of stature prediction ranged from ±4.81 to ±6.39 cm. The present study was of great importance with regards to improving the physical anthropology database of ethnic groups in China.

Chest circumference and sitting height among children and adolescents from Lhasa, tibet compared to other high altitude populations.

OBJECTIVES: The adaptation of human beings to a high altitude environment during growth has been reported in several populations but is less known for Tibetans. The objective of this study was to investigate similarities and differences of Tibetans in patterns and characteristics of physical growth and development in comparison to other high altitude populations. METHODS: We measured the stature, weight, chest circumference and sitting height of 2,813 healthy children and adolescents aged 6- to 21-year-old living at 3,658-4,500 m in Tibet, China, and compared them with published data from other high altitude populations. Eligible participants must have been born and raised in Tibet, and both their parents' families have to be Tibetan for at least the past three generations. RESULTS: The physical growth and development of children and adolescents in Tibet and the Andes followed similar patterns, such as delayed growth, short stature and sitting height, and large chest dimensions. Relative to stature, Tibetan sitting heights are similar to Andeans, but chest circumferences are smaller. CONCLUSIONS: Findings from this study reinforce the conclusion that Tibetan and Andean populations have adapted differently to high altitude hypoxia. The physical features of each population may result from unique adaptation to hypoxia, as well as socio-ecological factors, such as poor nutrition.

Study on the adult physique with the Heath-Carter anthropometric somatotype in the Han of Xi'an, China.

The study of somatotypes has important significance for medical and physical anthropology as well as sports science. The aim of this study was to understand the somatotype components of the Han population in Xi'an and compare the somatotypes of the Han and five other nationalities in China. The study sample consisted of 429 people of Han nationality (207 males, 222 females) from Xi'an, China, aged ≥20 years old. The Heath-Carter anthropometric method was employed. We evaluated the differences in age and sex by one-way ANOVA and t test. A comparison of somatotypes between the Han and other nationalities was made using the U test. The results showed that the male and female samples all could be classified as having a mesomorphic endomorph profile. The difference in endomorphy was strongest between sexes in all age groups (P < 0.01). There were prominent differences in mesomorphy and ectomorphy between males and females in the 50-59- and ≥60-year-old age groups. In females, the differences in somatotype components appeared to be distinguished between ages (P < 0.01 or P < 0.05). However, in males, there were prominent differences in somatotype components between the 20-29 year olds and all other age groups (P < 0.01 or P < 0.05) except for between those 20-29 and ≥60 years old in endomorphy. Compared with the other five nationalities, there were prominent differences in somatotype components between males and females. These results suggest that the somatotype of the Han population in Xi'an, China, has a predominantly mesomorphic endomorph profile. The endomorphic component shows distinct differences between ages and genders, respectively. Additionally, there are distinct differences in the somatotype components between Xi'an Han and five other nationalities in China in males and females.

The traits of five types of tongue movement in Han of Shaanxi, China.

The study sample consisting of 429 people (207 males, 222 females) of Han nationality in Shaanxi, China. Five types of tongue movements were investigated, including tongue rolling, tongue folding, tongue twisting, pointed tongue and clover-leaf tongue. The results revealed that the frequencies of tongue rolling, tongue folding, tongue twisting, pointed tongue and clover-leaf tongue were 63.6, 14.0, 12.6, 54.8 and 0 %, respectively. There were no significant gender differences except with pointed tongue. Compared with other nationalities, tongue rolling, tongue folding, and pointed tongue of Han in Shaanxi had an average frequency. Tongue twisting and clover-leaf tongue had low frequencies. There were significant differences in frequency of clover-leaf tongue between Han and another seven nationalities of China (P < 0.01). Furthermore, only three pairs of trait correlations were exhibited among ten pairs of types of tongue movement combination traits when analyzed using Pearson's correlation coefficient. The data indicated that the correlations of tongue movement were between tongue rolling and tongue folding, between pointed tongue and tongue rolling, and also between tongue folding and pointed tongue, respectively. Additionally, there were significant differences in frequency of tongue movements with age. The possible mechanism of variations of tongue movements with aging may involve the degradation of tongue function, and differential gene activation and modulation, or protein translation.

Estimation of human age according to telomere shortening in peripheral blood leukocytes of Tibetan.

In most normal somatic cells, the terminal restriction fragments (TRF) length and age are inversely correlated, which can be used to determine individual age. However, very little is known about the quantitative relationship between human telomeres and age. The aim of the present study was to investigate age-, gender-, and ethnicity-related changes in telomere length in human peripheral blood leukocytes (PBLs). Changes with age in telomere lengths were assessed by Southern blotting. The results shown that telomeres shorten in human PBLs in an age-dependent manner (r = -0.913, P < 0.01). The formula for age estimation according to telomere shortening was Y = -16.539X + 236.287 (Y: age, year; X: mean TRF length, kb). We analyzed the mean TRF length in males and females and found that males had shorter telomeres than females. Moreover, we compared the TRF length of Tibetan and Han population in China and found that telomere length did not differ between 2 populations. We conclude that estimation of human age according to telomere shortening in PBLs is a novel method especially when there is no morphologic information, furthermore, the gender must be considered when age estimation is carried out based on telomere shortening.

[Genetic polymorphism of 15 STR loci in Tibetan population].

The polymorphism distributions of 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, and FGA) were investigated in a Tibetan population by multiplex PCR amplification using five fluorochromes (6FAM, VIC, NED, PET, LIZ). Gene frequency, discrimination power (DP), heterozygosity (H), polymorphism information content (PIC) and probability of paternity exclusion (EPP) were calculated, and all loci were tested for Hardy-Weinberg equilibrium. Results indicate that the gene frequency of these 15 STR loci is in Hardy-Weinberg equilibrium. The DP is at 0.7555-0.9602, H is at 0.5651-0.8530, PIC is at 0.5528-0.8456, and EPP is at 0.3811-0.8549. Cumulative DP of the 15 STR is 0.99999999, and cumulative EPP is 0.999999997. Therefore, these 15 STR loci can be used as genetic markers of Tibetan populations in anthropological studies, linkage analysis of genetic diseases, individual identification and paternity testing in forensic medicine.

[Genetic polymorphism of 15 STR loci in a Lhasa Tibetan population].

The polymorphism distributions of 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA) were investigated in a Lhasa Tibetan population by multiplex PCR amplification using five fluorochromes (6FAM, VIC, NED, PET, LIZ). Gene frequency, discrimination power (DP), heterozygosity (H), polymorphism information content (PIC) and probability of paternity exclusion (EPP) were calculated, and all loci were tested for Hardy-Weinberg equilibrium. Results indicate that the gene frequency of these 15 STR loci is in Hardy-Weinberg equilibrium. The DP is at 0.7515 - 0.9599, H is at 0.5576 - 0.8538, PIC is at 0.5455 - 0.8458, and EPP is at 0.37550.8520. Cumulative DP of the 15 STR is 0.99999999, and cumulative EPP is 0.999999997. Therefore, these 15 STR loci can be used as genetic markers of in Lhasa Tibetan populations in anthropological studies, linkage analysis of genetic diseases, individual identification and paternity testing in forensic medicine.