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Correlation between facial morphology and gene polymorphisms in the Uygur youth population.

ABSTRACT: Human facial morphology varies considerably among individuals and can be influenced by gene polymorphisms. We explored the effects of single nucleotide polymorphisms (SNPs) on facial features in the Uygur youth population of the Kashi area in Xinjiang, China. Saliva samples were collected from 578 volunteers, and 10 SNPs previously associated with variations in facial physiognomy were genotyped. In parallel, 3D images of the subjects' faces were obtained using grating facial scanning technology. After delimitation of 15 salient landmarks, the correlation between SNPs and the distances between facial landmark pairs was assessed. Analysis of variance revealed that ENPP1 rs7754561 polymorphism was significantly associated with RAla-RLipCn and RLipCn-Sbn linear distances (p = 0.044 and p = 0.012, respectively) as well as RLipCn-Stm curve distance (p = 0.042). The GHR rs6180 polymorphism correlated with RLipCn-Stm linear distance (p = 0.04), while the GHR rs6184 polymorphism correlated with RLipCn-ULipP curve distance (p = 0.047). The FGFR1 rs4647905 polymorphism was associated with LLipCn-Nsn linear distance (p = 0.042). These results reveal that ENPP1 and FGFR1 influence lower anterior face height, the distance from the upper lip to the nasal floor, and lip shape. FGFR1 also influences the lower anterior face height, while GHR is associated with the length and width of the lip.

SUBMITTER: He H

PROVIDER: S-EPMC5438688 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature

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Correlation between facial morphology and gene polymorphisms in the Uygur youth population.

He Huiyu H Mi Xue X Zhang Jiayu J Zhang Qin Q Yao Yuan Y Zhang Xu X Xiao Feng F Zhao Chunping C Zheng Shutao S

Oncotarget 20170401 17

Human facial morphology varies considerably among individuals and can be influenced by gene polymorphisms. We explored the effects of single nucleotide polymorphisms (SNPs) on facial features in the Uygur youth population of the Kashi area in Xinjiang, China. Saliva samples were collected from 578 volunteers, and 10 SNPs previously associated with variations in facial physiognomy were genotyped. In parallel, 3D images of the subjects' faces were obtained using grating facial scanning technology. ...[more]

PMID: 28415752

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Project description:BackgroundOur previous data suggested that three single-nucleotide polymorphisms (SNPs), rs1048661, rs3825942, and rs2165241, of the lysyl oxidase-like 1 gene (LOXL1) are significantly associated with exfoliation syndrome (XFS) and exfoliation glaucoma (XFG). The following study investigated other SNPs that potentially effect XFS/XFG.MethodsA total of 216 Uygur patients diagnosed with XFS/XFG, and 297 Uygur volunteers were admitted to the First Affiliated Hospital at Xinjiang Medical University between January 2015 and October 2017. Blood samples were collected by venipuncture. Alleles and genotypes of LOXL1, TBC1D21, ATXN2, APOE, CLU, AFAP1, TXNRD2, CACNA1A, ABCA1, GAS7, and CNTNAP2 were analyzed by direct sequencing.ResultsThe allele G of rs41435250 of LOXL1 was a risk allele for XFS/XFG (P < 0.001), whereas the allele G of rs893818 of LOXL1 was a protective allele for XFS/XFG (P < 0.001). After adjusting all data for age and gender, the following results were obtained: the frequency of genotype CC for rs7137828 of ATXN2 was significantly higher in XFS/XFG patients than in controls (P = 0.027), while no significance was found with reference to the frequency of genotype TT. The frequency of genotype GG for rs893818 of LOXL1 (P < 0.001) and the frequency of genotype AA were both significantly higher in XFS/XFG groups compared to the control group (P < 0.001). In addition, the frequency of genotype TT for rs41435250 of LOXL1 was higher in XFS/XFG patients than in controls (P = 0.003), while no significant difference was found with reference to the frequency of genotype GG after adjusting for age and gender. In addition, the haplotypes G-A/T-G/G-G for rs41435250 and rs893818 were significantly associated with XFS/G.ConclusionsWith reference to LOXL1, the rs41435250 resulted as a risk factor and rs893818 as a protective factor for XFS/XFG in the Uygur populations. Meanwhile, the rs16958445 of TBC1D21 and the rs7137828 of ATXN2 have also shown to be associated with pathogenesis of XFS/XFG.

Project description:Tuberculosis (TB) is an infectious disease caused by a mycobacterial infection, with high morbidity and mortality worldwide. The pathogenesis of TB is still unclear; however, a growing body of evidence suggests that host genetic factors may play important roles in susceptibility to TB, and different gene polymorphisms in different ethnic and genetic backgrounds may lead to different effects. In view of the above theories, our research group used bioinformatics to screen for 12 single nucleotide polymorphisms (SNPs), including rs1045481, rs1045491, rs2740349, rs10719, rs642321, rs3744741, rs7813, rs3742330, rs3757, rs14035, rs720012, and rs4961280, which are derived from 6 main genes (i.e., GEMIN4, DICER1, DROSHA, DGCR8, AGO2, and RAN) acting in the microRNA-machinery pathway. We then analyzed the correlations between TB patients of Uygur in Xinjiang China and the above SNPs using a case-control study. The results showed that the genotypic distributions of rs720012 (from gene DGCR8) and rs4961280 (from gene AGO2) were not in accordance with the Hardy-Weinberg equilibrium (P?<?.05), so they were deleted. Subjects carrying the rs3742330 AG/GG genotype, rs1045481 GA genotype, rs1045491 CT genotype, and rs7813 AG genotype, respectively, had an increased risk of TB than individuals carrying rs3742330 AA genotype, rs1045481 GG/AA genotype, rs1045491 CC/TT genotype, and rs7813 AA/GG genotype between different groups. Expression quantitative trait loci analysis found that rs3744741 and rs2740349 from gene GEMIN4 had a regulatory effect, while rs3742330 from gene DICER1 had a reverse regulatory effect. Finally, according to the results of Linkage Disequilibrium between SNPs, the haplotype analysis showed that the haplotype of GCTAC from gene GEMIN4 had statistical differences when compared with active and inactive TB. The current experimental results provide a direction for our future research, and the research team will conduct more in-depth studies on the correlation between miRNA and TB.

Dataset Information

Correlation between facial morphology and gene polymorphisms in the Uygur youth population.

Publications

Correlation between facial morphology and gene polymorphisms in the Uygur youth population.

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