scholarly journals Correlation analysis of IL-11 polymorphisms and Hirschsprung disease subtype susceptibility in Southern Chinese Children

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Hong Zhang ◽  
Jing-Lu Zhao ◽  
Yi Zheng ◽  
Xiao-Li Xie ◽  
Li-Hua Huang ◽  
...  
Keyword(s):  
Association Analysis ◽  
Southern China ◽  
Hirschsprung Disease ◽  
Surgical Patient ◽  
Nucleotide Polymorphisms ◽  
Disease Subtype ◽  
Enteric Ganglia ◽  
Southern Chinese ◽  
Independence Testing ◽  
The Relationship

Abstract Background Hirschsprung disease (HSCR) is a hereditary defect, which is characterized by the absence of enteric ganglia and is frequently concurrent with Hirschsprung-associated enterocolitis (HAEC). However, the pathogenesis for HSCR is complicated and remains unclear. Recent studies have shown that pro-inflammatory cytokines such as interleukin-11 (IL-11) are involved in the enteric nervous system's progress. It was found that IL-11 SNPs (rs8104023 and rs4252546) are associated with HSCR in the Korean population waiting for replication in an independent cohort. This study evaluated the relationship between IL-11 and the susceptibility of patients to HSCR by performing subphenotype interaction examination, HAEC pre-/post-surgical patient-only association analysis, and independence testing. Methods In this study, a cohort consisting of children from Southern China, comprising 1470 cases and 1473 controls, was chosen to examine the relationship between two polymorphisms (rs8104023 and rs4252546 in IL-11) and susceptibility to HSCR by replication research, subphenotype association analysis, and independence testing. Results The results showed that IL-11 gene polymorphisms (rs8104023 and rs4252546) are not associated with the risk of HSCR in the Chinese population. The results of both short-segment and long-segment (S-HSCR and L-HSCR) surgery (3.34 ≤ OR ≤ 4.05, 0.02 ≤ P ≤ 0.04) showed that single nucleotide polymorphisms (SNP) rs8104023 is associated with susceptibility to HAEC. Conclusions This study explored the relationship between genetic polymorphisms and susceptibility to HAEC in HSCR subtypes for the first time. These findings should be replicated in a larger and multicentre study.

scholarly journals Polymorphisms in the SP110 and TNF-α Gene and Susceptibility to Pulmonary and Spinal Tuberculosis among Southern Chinese Population

2017 ◽  
Vol 2017 ◽  
pp. 1-8 ◽  
Author(s):  
Ying Zhou ◽  
Chun-yan Tan ◽  
Zhi-jiang Mo ◽  
Qi-le Gao ◽  
Dan He ◽  
...  
Keyword(s):  
Protective Factor ◽  
Southern China ◽  
Spinal Tuberculosis ◽  
Control Group ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Healthy Individuals ◽  
Single Nucleotide ◽  
Southern Chinese ◽  
Tnf Α

Objective. To investigate the association of single-nucleotide polymorphisms (SNPs) in SP110 gene and TNF-α gene among pulmonary TB (PTB) and spinal TB (STB) patients. Methods. In a total of 190 PTB patients, 183 STB patients were enrolled as the case group and 362 healthy individuals at the same geographical region as the control group. The SP110 SNPs (rs722555 and rs1135791) and the promoter -308G>A (rs1800629) and -238G>A (rs361525) polymorphisms in TNF-α were genotyped. Results. TNF-α -238G>A polymorphism was involved in susceptibility to STB, but not to PTB. The TNF-α -238 A allele was a protective factor against STB (A versus G: OR [95% CI] = 0.331 [0.113–0.972], P=0.044). Furthermore, the presence of the -238 A allele was considered a trend to decrease the risk of STB (AG versus GG: P=0.062, OR [95% CI] = 0.352 [0.118–1.053]; AA + AG versus GG: P=0.050, OR [95CI%] = 0.335 [0.113–0.999]). However, SP110 SNPs (rs722555 and rs1135791) and TNF-α -308G>A (rs1800629) showed no association with PTB and STB in all genetic models. Conclusion. The TNF-α -238 A allele appeared a protective effect against STB, whereas the SP110 SNPs (rs722555 and rs1135791) and TNF-α -308G>A (rs1800629) showed no association with susceptibility to PTB and STB patients in southern China.

scholarly journals The lncRNA SOX2OT rs9839776 C>T Polymorphism Indicates Recurrent Miscarriage Susceptibility in a Southern Chinese Population

2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Zhenzhen Fang ◽  
Di Che ◽  
Shuang Qing ◽  
Qingfeng Li ◽  
Hui Men ◽  
...  
Keyword(s):  
Chinese Population ◽  
Southern China ◽  
Recurrent Miscarriage ◽  
Age Groups ◽  
Migration And Invasion ◽  
Multiple Tumor ◽  
Southern Chinese ◽  
Increased Risk ◽  
Healthy Control ◽  
The Relationship

Genetic susceptibility may be involved in the onset of recurrent miscarriage. Previous studies have shown that some genetic polymorphisms that regulate cell migration are associated with susceptibility to recurrent miscarriage. The SOX2 overlapping transcript (SOX2OT) may regulate the migration and invasion of multiple tumor cells and is related to susceptibility to various diseases. However, whether lncRNA SOX2OT polymorphisms are related to recurrent miscarriage susceptibility is unclear. Therefore, we investigated the relationship between the lncRNA SOX2OT rs9839776 C>T polymorphism and recurrent miscarriage susceptibility. We recruited 570 subjects with recurrent miscarriage and 578 healthy control subjects from a population in southern China and used the TaqMan method for genotyping. We found a significant association between the rs9839776 CT genotype in the SOX2OT gene and an increased risk for recurrent miscarriage (CT vs CC: adjusted OR=1.357, 95%CI=1.065−1.728, P=0.0134). However, we did not observe any significant associations between the recurrent miscarriage risk and the number of miscarriages in different age groups. In conclusion, our study indicated that the rs9839776 CT genotype may contribute to an increased risk of recurrent miscarriage in the southern Chinese population and that rs9839776 may act as a prognostic biomarker in recurrent miscarriage patients. However, an experiment-based study with a larger sample size should be performed to confirm these results.

scholarly journals Associations of SLC6A20 genetic polymorphisms with Hirschsprung’s disease in a Southern Chinese population

2019 ◽  
Vol 39 (8) ◽  
Author(s):  
Xiaoli Xie ◽  
Qiuming He ◽  
Lihua Huang ◽  
Le Li ◽  
Yuxiao Yao ◽  
...  
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Neurodevelopmental Disorder ◽  
Dose Effect ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genetic Components ◽  
Southern Chinese ◽  
First Time ◽  
The Relationship

Abstract Hirschsprung’s disease (HSCR) is a neurodevelopmental disorder characterized by the absence of nerves in intestine with strong genetic components. SLC6A20 was found to be associated with HSCR in Korean population waiting for replication in an independent cohort. In the present study, ten single nucleotide polymorphisms (SNPs) in the SLC6A20 were selected from Southern Chinese with 1470 HSCR cases and 1473 ethnically matched healthy controls. Our results indicated that SNP rs7640009 was associated with HSCR and SLC6A20 has a gene–dose effect in the extent of the aganglionic segment during enteric nervous system (ENS) development. It is the first time to reveal the relationship between SNP rs2191026 and HSCR-associated enterocolitis (HAEC) susceptibility.

scholarly journals miR-618 rs2682818 C>A polymorphism decreases Hirschsprung disease risk in Chinese children

2020 ◽  
Vol 40 (5) ◽  
Author(s):  
Yi Zheng ◽  
Tongyi Lu ◽  
Xiaoli Xie ◽  
Qiuming He ◽  
Lifeng Lu ◽  
...  
Keyword(s):  
Disease Risk ◽  
Malignant Tumors ◽  
Hirschsprung Disease ◽  
Chinese Children ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Functional Region ◽  
Tumor Susceptibility ◽  
Southern Chinese ◽  
Stratified Analysis

Abstract MicroRNAs (miRNAs) are endogenous non-coding small RNAs that play an important role in the development of many malignant tumors. In addition, recent studies have reported that single nucleotide polymorphisms (SNPs) located in the miRNA functional region was inextricably linked to tumor susceptibility. In the present study, we investigated the susceptibility between miR-618 rs2682818 C>A and Hirschsprung disease (HSCR) in the Southern Chinese population (1470 patients and 1473 controls). Odds ratios (ORs) and 95% confidence intervals (CIs) were used for estimating the strength of interrelation between them. We found that the CA/AA genotypes of miR-618 rs2682818 were associated with a decreased risk of HSCR when compared with the CC genotype (OR = 0.84, 95% CI = 0.72–0.99, P=0.032). Based on the stratified analysis of HSCR subtypes, the rs2682818 CA/AA genotypes were able to significantly lessen the risk of HSCR compared with CC genotype in patients with long-segment HSCR (adjusted OR = 0.70, 95% CI = 0.52–0.93, P=0.013). In conclusion, our results indicated that the miR-618 rs2682818 C>A polymorphism was associated with a reduced risk of HSCR in Chinese children, especially in patients with long-segment HSCR (L-HSCR) subtype.

scholarly journals Investigating Health Equity and Healthcare Needs among Immigrant Women Using the Association Rule Mining Method

Healthcare ◽  
2021 ◽  
Vol 9 (2) ◽  
pp. 195
Author(s):  
Ming-Hseng Tseng ◽  
Hui-Ching Wu
Keyword(s):  
Association Analysis ◽  
Association Rule ◽  
Association Rule Mining ◽  
Immigrant Women ◽  
Parental Knowledge ◽  
Physical Factors ◽  
Rule Mining ◽  
Socioeconomic Characteristics ◽  
Healthcare Needs ◽  
The Relationship

Equitable access to healthcare services is a major concern among immigrant women. Thus, this study investigated the relationship between socioeconomic characteristics and healthcare needs among immigrant women in Taiwan. The secondary data was obtained from “Survey of Foreign and Chinese Spouses’ Living Requirements, 2008”, which was administered to 5848 immigrant women by the Ministry of the Interior, Taiwan. Additionally, descriptive statistics and significance tests were used to analyze the data, after which the association rule mining algorithm was applied to determine the relationship between socioeconomic characteristics and healthcare needs. According to the findings, the top three healthcare needs were providing medical allowances (52.53%), child health checkups (16.74%), and parental knowledge and pre- and post-natal guidance (8.31%). Based on the association analysis, the main barrier to the women’s healthcare needs was “financial pressure”. This study also found that nationality, socioeconomic status, and duration of residence were associated with such needs, while health inequality among aged immigrant women was due to economic and physical factors. Finally, the association analysis found that the women’s healthcare problems included economic, socio-cultural, and gender weakness, while “economic inequality” and “women’s health” were interrelated.

scholarly journals Evaluating of the spatial heterogeneity of soil loss tolerance and its effects on erosion risk in the carbonate areas of southern China

Solid Earth ◽  
2017 ◽  
Vol 8 (3) ◽  
pp. 661-669 ◽  
Author(s):  
Yue Li ◽  
Xiao Yong Bai ◽  
Shi Jie Wang ◽  
Luo Yi Qin ◽  
Yi Chao Tian ◽  
...  
Keyword(s):  
Soil Erosion ◽  
Spatial Heterogeneity ◽  
Soil Loss ◽  
Carbonate Rock ◽  
Southern China ◽  
Clastic Rock ◽  
Erosion Risk ◽  
Soil Loss Tolerance ◽  
Loss Tolerance ◽  
The Relationship

Abstract. Soil loss tolerance (T value) is one of the criteria in determining the necessity of erosion control measures and ecological restoration strategy. However, the validity of this criterion in subtropical karst regions is strongly disputed. In this study, T value is calculated based on soil formation rate by using a digital distribution map of carbonate rock assemblage types. Results indicated a spatial heterogeneity and diversity in soil loss tolerance. Instead of only one criterion, a minimum of three criteria should be considered when investigating the carbonate areas of southern China because the one region, one T value concept may not be applicable to this region. T value is proportionate to the amount of argillaceous material, which determines the surface soil thickness of the formations in homogenous carbonate rock areas. Homogenous carbonate rock, carbonate rock intercalated with clastic rock areas and carbonate/clastic rock alternation areas have T values of 20, 50 and 100 t/(km2 a), and they are extremely, severely and moderately sensitive to soil erosion. Karst rocky desertification (KRD) is defined as extreme soil erosion and reflects the risks of erosion. Thus, the relationship between T value and erosion risk is determined using KRD as a parameter. The existence of KRD land is unrelated to the T value, although this parameter indicates erosion sensitivity. Erosion risk is strongly dependent on the relationship between real soil loss (RL) and T value rather than on either erosion intensity or the T value itself. If RL > > T, then the erosion risk is high despite of a low RL. Conversely, if T > > RL, then the soil is safe although RL is high. Overall, these findings may clarify the heterogeneity of T value and its effect on erosion risk in a karst environment.

scholarly journals AChRAb and MuSKAb double-seropositive myasthenia gravis: a distinct subtype?

2021 ◽  
Vol 42 (3) ◽  
pp. 863-869
Author(s):  
Jieni Zhang ◽  
Yin Chen ◽  
Jiaxin Chen ◽  
Xin Huang ◽  
Haiyan Wang ◽  
...  
Keyword(s):  
Myasthenia Gravis ◽  
Case Control Study ◽  
Southern China ◽  
Case Control ◽  
Disease Subtype ◽  
Bulbar Dysfunction ◽  
Control Study ◽  
Worse Prognosis ◽  
Distinct Subtype ◽  
Immunosuppressant Treatment

Abstract Introduction This study investigated the characteristics of double-seropositive myasthenia gravis (DSP-MG) in southern China for disease subtype classification. Methods A case-control study was carried out in which the characteristics of DSP-MG patients (n = 17) were compared to those of muscle-specific tyrosine kinase antibody-positive (MuSK)-MG and acetylcholine receptor antibody-positive (AChR)-MG patients (n = 8 and 27, respectively). We also performed a literature review of DSP-MG patients. Results Compared to AChR-MG, DSP-MG had greater bulbar dysfunction (47.1% vs 18.6%, P = 0.04), higher incidence of myasthenia crisis (41.2% vs 14.8%, P = 0.04), more severe Myasthenia Gravis Foundation of America classification at maximum worsening, greater autoantibody abnormalities (70.6% vs 33.3%, P = 0.015), greater need for immunosuppressant treatment (58.8% vs 3.7%, P < 0.001), and worse prognosis with less remission (11.8% vs 55.6%, P = 0.001). There were no differences between DSP-MG and MuSK-MG patients. DSP-MG described in published reports was comparable to MuSK-MG. Discussion DSP-MG in southern China may be a subtype of MuSK-MG.

scholarly journals Associations between neurochemical receptor genes, 2D:4D, impulsivity and relationship quality

2018 ◽  
Vol 14 (12) ◽  
pp. 20180642 ◽  
Author(s):  
Eiluned Pearce ◽  
Rafael Wlodarski ◽  
Anna Machin ◽  
Robin I. M. Dunbar
Keyword(s):  
Relationship Quality ◽  
Multiple Testing ◽  
Romantic Relationship ◽  
Preliminary Evidence ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Digit Ratios ◽  
The Relationship ◽  
Romantic Relationship Quality

The ratio between the second and fourth digits (2D:4D) has been widely used as a proxy for fetal exposure to androgens and has been linked to a number of sociosexual traits in humans. However, the role of genes in this equation remains unknown. Here ( N = 474), we test, firstly, for associations between 2D:4D and single-nucleotide polymorphisms (SNPs) in nine neurochemical receptor genes ( AR, OXTR, AVPR1A, OPRM1, DRD1/2, ANKK1, 5HTR1A/2A ), and secondly, whether digit ratios mediate the relationship between genetic variation and sociosexuality. We demonstrate significant associations between AR , OPRM1 and AVPR1A and 2D:4D. Moreover, mediation analysis indicates that, in women, AR and OPRM1 variation drives digit ratios, which are related positively to impulsivity and, for OPRM1 , negatively to romantic relationship quality. Although these findings are subject to multiple testing issues, this study provides preliminary evidence that in women genetic factors may affect both impulsivity and perceived relationship quality through influencing factors indexed by digit ratios.

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