Characteristics of dental morphology in the Xinjiang Uyghurs and correlation with the EDARV370A variant

Teeth are one of the most important materials for anthropological studies because they are likely to be preserved in ancient remains.While the frequencies of dental characteristics can provide clues to the phylogeny of populations,genetic studies at the individual level can further reveal the biological mechanisms and evolutionary context of dental characteristics.In this study,by analyzing 38 dental characteristics of 242 Xinjiang Uyghur individuals,we found that(i)the dental characteristics of the Uyghurs showed evidence of admixture between European and East Asian populations.The admixture proportions were in line with those previously reported in population genetic studies;(ii)the Xinjiang Uyghur dental characteristics formed three clusters in pairwise correlation analysis.One of the main clusters consisted of characteristics including incisor shoveling,double shoveling and mesial ridge;and(iii)all the characteristics in this cluster were significantly correlated with the genetic variant EDARV370A.The extracted composite phenotypic factor was also significantly associated with EDARV370A,which explained 18%of the total phenotypic variance.This indicated a pleiotropic effect,i.e.,the same genetic factor affects a number of dental characteristics at the same time.Our results confirmed that EDARV370A,a genetic variant that first originated in East Asia about 30000 years ago,played an important role in incisor shoveling in East Asia.This finding suggested that incisor shoveling in modern humans in East Asia is likely to have appeared after the late Pleistocene.

Helicobacter pylori infection in Xinjiang Uyghur Autonomous Region:Prevalence and analysis of related factors

BACKGROUND^(14)C urea breath test(^(14)C UBT)and immunohistochemical staining(IHC)are widely used for detection Helicobacter pylori(H.pylori)infection with different sensitivity,and there is a difference in H.pylori infection rate in Uyghur and Han ethnic groups.Both need large cohort studies to evaluate the differences more accurately.AIM To analyze the difference between^(14)C UBT and IHC for H.pylori detection in Xinjiang Uyghur Autonomous Region and the difference between Uyghur and Han populations.METHODS There were 3944 cases of H.pylori infection detected by both IHC and^(14)C UBT at the same time(interval<1 wk,with sampling site including gastric antrum,selected from 5747 patients).We compared the sensitivity of^(14)C UBT and IHC.We also compared 555 pairs of Han/Uyghur cases(completely matched for gender and age)for their H.pylori infection rates.The overall H.pylori infection rate of all 5747 cases and the correlation with other clinicopathological data were also further analyzed.SPSS V23.0 software was used for statistical analysis.RESULTS The sensitivity was 94.9%for^(14)C UBT and 65.1%for IHC,which was a significant difference(n=3944,P<0.001).However,among those cases negative for H.pylori by^(14)C UBT(detection value≤100),4.8%were positive by IHC.Combining both methods,the overall H.pylori infection rate was 48.6%(n=5747),and differences in gender,age group,ethnicity and region of residence significantly affected the H.pylori positive rates.According to age group(Han/Uyghur),the positive rates were≤30 years(62.2%/100.0%),31-40 years(45.2%/85.7%),41-50 years(47.2%/79.2%),51-60 years(44.6%/76.1%),61-70 years(40.9%/68.2%),71-80 years(41.7%/54.1%)and≥81 years(42.9%/NA).The H.pylori infection rates of Han/Uyghur paired cases were 41.4%and 73.3%,which was a significant difference(P<0.001)(555 pairs).H.pylori positivity was significantly related to moderate-severe grade 2-3 chronic/active gastritis and intestinal metaplasia(all P<0.05).CONCLUSION The sensitivity of^(14)C UBT was significantly higher,but combined application can still increase the accuracy.The prevention H.pylori should be emphasized for Uygur and young people.

DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children

Developmental dyslexia is a complex reading and writing disorder with strong genetic components. In previous genetic studies about dyslexia, a number of candidate genes have been identified. These include DCDC2, which has repeatedly been associated with developmental dyslexia in various European and American populations. However, data regarding this relationship are varied according to population. The Uyghur people of China represent a Eurasian population with an interesting genetic profile. Thus, this group may provide useful information about the association between DCDC2 gene polymorphisms and dyslexia. In the current study, we examined genetic data from 392 Uyghur children aged 8–12 years old from the Xinjiang Uyghur Autonomous Region of China. Participants included 196 children with dyslexia and 196 grade-, age-, and gender-matched controls. DNA was isolated from oral mucosal cell samples and fourteen single nucleotide polymorphisms（rs6456593, rs1419228, rs34647318, rs9467075, rs793862, rs9295619, rs807701, rs807724, rs2274305, rs7765678, rs4599626, rs6922023, rs3765502, and rs1087266） in DCDC2 were screened via the SNPscan method. We compared SNP frequencies in five models（Codominant, Dominant, Recessive, Heterozygote advantage, and Allele） between the two groups by means of the chi-squared test. A single-locus analysis indicated that, with regard to the allele frequency of these polymorphisms, three SNPs（rs807724, rs2274305, and rs4599626） were associated with dyslexia. rs9467075 and rs2274305 displayed significant associations with developmental dyslexia under the dominant model. rs6456593 and rs6922023 were significantly associated with developmental dyslexia under the dominant model and in the heterozygous genotype. Additionally, we discovered that the T-G-C-T of the four-marker haplotype（rs9295619-rs807701-rs807724-rs2274305） and the T-A of the two-marker haplotype（rs3765502-1087266） were significantly different between cases and controls. Thus, we conclude that DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children.