BMP7 Gene involved in nonsyndromic orofacial clefts in Western han Chinese

Background: Nonsyndromic orofacial clefts (NSOCs) are the most common craniofacial birth defects with complex etiology in which multiple genes and environmental exposures are involved. Bone morphogenetic protein 7 (BMP7), as a member of the transforming growth factor-beta (TGF-beta) superfamily, has been shown to play crucial roles in palate and other orofacial ectodermal appendages development in animal models. Material and Methods: This study was designed to investigate the possible associations between BMP7 gene and the NSOCs (221 case-parent trios) in Western Han Chinese. Five tagSNPs at BMP7, rs12438, rs6099486, rs6127973, rs230188 and rs6025469 were picked and tried to cover the entire gene. In order to identify the contribution of BMP7 gene to the etiology of NSOCs, we performed several statistical analysis from different aspects including transmission disequilibrium test (TDT), pairwise linkage disequilibrium (LD), parent-of-origin effect and Chi-squared/Fisher’s exact tests. Results: Rs6127973 G allele and G/G homozygotes were over-transmitted for both NSOCs ( P =0.005 and P =0.011, respectively) and NSCL/P ( P =0.0061 and P =0.011, respectively), rs6127973 G allele was also paternally over- transmitted for both NSOCs ( P =0.0061) and NSCL/P ( P =0.011). Conclusions: This study suggested that rs6127973 may be a risk factor of being NSOCs and confirmed the role of BMP7 gene in orofacial deformity from Western Han Chinese, which will also supply scientific evidence for future research and genetic counseling

New insights from GWAS for the cleft palate among han Chinese population

Genome wide association studies (GWAS) already have identified tens of susceptible loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). However, whether these loci associated with nonsyndromic cleft palate only (NSCPO) remains unknown. In this study, we replicated 38 SNPs (Single nucleotide polymorphisms) which has the most significant p values in published GWASs, genotyping by using SNPscan among 144 NSCPO trios from Western Han Chinese. We performed the transmission disequilibrium test (TDT) on individual SNPs and gene-gene (GxG) interaction analyses on the family data; Parent-of-Origin effects were assessed by separately considering transmissions from heterozygous fathers versus heterozygous mothers to affected offspring. Allelic TDT results showed that T allele at rs742071 (PAX7) (p=0.025, ORtransmission=3.00, 95%CI: 1.09-8.25) and G allele at rs2485893 (10kb 3? of SYT14) were associated with NSCPO (p=0.0036, ORtransmission= 0.60, 95%CI: 0.42-0.85). Genotypic TDT based on 3 pseudo controls further confirmed that rs742071 (p-value=0.03, ORtransmission=3.00, 95%CI: 1.09-8.25) and rs2485893 were associated with NSCPO under additive model (p-value= 0.02, ORtransmission= 0.66, 95%CI: 0.47-0.92). Genotypic TDT for epistatic interactions showed that rs4844913 (37kb 3? of DIEXF) interacted with rs11119388 (SYT14) (p-value=1.80E-08) and rs6072081 (53kb 3? of MAFB) interacted with rs6102085 (33kb 3? of MAFB) (p-value=3.60E-04) for NSCPO, suggesting they may act in the same pathway in the etiology of NSCPO. In this study, we found that rs742071 and rs2485893 were associated NSCPO from Han Chinese population; also, interactions of rs4844913:rs11119388 and rs6072081:rs6102085 for NSCPO were identified, gene-gene interactions have been proposed as a potential source of the remaining heritability, these findings provided new insights of the previous GWAS

A Developed Framework for the Multi-District Ecological Compensation Standards Integrating Ecosystem Service Zoning in an Urban Area in China

Ecological compensation is an effective means to adjust relationships among stakeholders in order to conserve and/or sustainably use ecosystem services. The current ecological compensation standards (ECS) do not well reflect the differences in ecological, social, and economic development. Thus, we took a typical urbanization area (the Suzhou–Wuxi–Changzhou region) in China as an example, because of its prominent contradiction between rapid socio-economic development and fragile ecosystem. Combined with the ecological, economic, and social conditions, the methods of ecosystem service value (ESV) evaluation, cluster analysis, and scenario analysis were used to propose an optimized spatial zoning method and optimal development scenario. Then, the ECS by different zones were determined by using ESV assessment, cost-benefit analysis, and contingent valuation method. The results showed that (1) the regions were divided into two categories, with a total of four zones: ESV output areas (synergetic development zones (SDZ) and ecological conservation zones (ECZ)) and ESV input areas (ecological degradation zones (EDegZ) and economic development zones (EDevZ)); (2) among five scenarios, the best development mode in the future was the protection and development scenario, which was consistent with the existing planning; and (3) the ECS for the SDZ should be paid about 1.94 billion Yuan/year, the ECZ should be paid about 0.80 billion Yuan/year, the ECS for the EDegZ should pay about 2.20–2.25 million Yuan/year, and the EDevZ should pay about 0.06–7.33 million Yuan/year. By feasibility analysis, the ESV input areas were fully capable of inter-regional compensation, which could promote the effective purchase of ecological services. The developed evaluation framework of ECS in this study can accurately provide a scientific basis for the determination of ecological compensation regulations and policies in the future

A systematic review of fuzzing based on machine learning techniques.

Security vulnerabilities play a vital role in network security system. Fuzzing technology is widely used as a vulnerability discovery technology to reduce damage in advance. However, traditional fuzz testing faces many challenges, such as how to mutate input seed files, how to increase code coverage, and how to bypass the format verification effectively. Therefore machine learning techniques have been introduced as a new method into fuzz testing to alleviate these challenges. This paper reviews the research progress of using machine learning techniques for fuzz testing in recent years, analyzes how machine learning improves the fuzzing process and results, and sheds light on future work in fuzzing. Firstly, this paper discusses the reasons why machine learning techniques can be used for fuzzing scenarios and identifies five different stages in which machine learning has been used. Then this paper systematically studies machine learning-based fuzzing models from five dimensions of selection of machine learning algorithms, pre-processing methods, datasets, evaluation metrics, and hyperparameters setting. Secondly, this paper assesses the performance of the machine learning techniques in existing research for fuzz testing. The results of the evaluation prove that machine learning techniques have an acceptable capability of prediction for fuzzing. Finally, the capability of discovering vulnerabilities both traditional fuzzers and machine learning-based fuzzers is analyzed. The results depict that the introduction of machine learning techniques can improve the performance of fuzzing. We hope to provide researchers with a systematic and more in-depth understanding of fuzzing based on machine learning techniques and provide some references for this field through analysis and summarization of multiple dimensions

sj-docx-3-cpc-10.1177_10556656221125392 - Supplemental material for <i>MMP16</i> as NSCL ± P Susceptible Gene in Western Han Chinese

Supplemental material, sj-docx-3-cpc-10.1177_10556656221125392 for MMP16 as NSCL ± P Susceptible Gene in Western Han Chinese by Yansong Lin, Jiayu Shi, Bing Shi and Zhonglin Jia in The Cleft Palate-Craniofacial Journal</p

sj-docx-4-cpc-10.1177_10556656221125392 - Supplemental material for <i>MMP16</i> as NSCL ± P Susceptible Gene in Western Han Chinese

Supplemental material, sj-docx-4-cpc-10.1177_10556656221125392 for MMP16 as NSCL ± P Susceptible Gene in Western Han Chinese by Yansong Lin, Jiayu Shi, Bing Shi and Zhonglin Jia in The Cleft Palate-Craniofacial Journal</p

sj-docx-5-cpc-10.1177_10556656221125392 - Supplemental material for <i>MMP16</i> as NSCL ± P Susceptible Gene in Western Han Chinese

Supplemental material, sj-docx-5-cpc-10.1177_10556656221125392 for MMP16 as NSCL ± P Susceptible Gene in Western Han Chinese by Yansong Lin, Jiayu Shi, Bing Shi and Zhonglin Jia in The Cleft Palate-Craniofacial Journal</p

sj-tif-2-cpc-10.1177_10556656221125392 - Supplemental material for <i>MMP16</i> as NSCL ± P Susceptible Gene in Western Han Chinese

Supplemental material, sj-tif-2-cpc-10.1177_10556656221125392 for MMP16 as NSCL ± P Susceptible Gene in Western Han Chinese by Yansong Lin, Jiayu Shi, Bing Shi and Zhonglin Jia in The Cleft Palate-Craniofacial Journal</p

sj-tif-1-cpc-10.1177_10556656221125392 - Supplemental material for <i>MMP16</i> as NSCL ± P Susceptible Gene in Western Han Chinese

Supplemental material, sj-tif-1-cpc-10.1177_10556656221125392 for MMP16 as NSCL ± P Susceptible Gene in Western Han Chinese by Yansong Lin, Jiayu Shi, Bing Shi and Zhonglin Jia in The Cleft Palate-Craniofacial Journal</p