The association of genetic variants in FGFR2 with osteoporosis susceptibility in Chinese Han population

Abstract Objective: The present study was conducted for exploring the influence of fibroblast growth factor 2 receptor (FGFR2) gene polymorphisms on osteoporosis occurrence risk in the Chinese population. Methods: Polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) was conducted for the genotyping of polymorphism in 145 osteoporosis patients and 123 controls. The status of Hardy–Weinberg equilibrium was detected in the control group. Genotype and allele frequency comparison of polymorphism between the two groups was performed by χ2 test, odds ratio (OR) with 95% confidence interval (95% CI) was used for the result expression about the association of FGFR2 polymorphisms with osteoporosis. Furthermore, the results were adjusted by clinical features via logistic regression analysis. Results: AA genotype and A allele of rs2420946 were significantly associated with the increased risk of osteoporosis development adjusted by clinical features (OR = 2.238, 95% CI = 1.055–4.746; OR = 1.482, 95% CI = 1.042–2.019). Similarly, CC genotype and C allele frequencies of rs1219648 were detected the significant difference between the case and control groups (P<0.01); moreover, it was still significant by the adjustion of clinical features, which indicated that rs1219648 was significantly associated with the risk of osteoporosis occurrence (OR = 2.900, 95% CI = 1.341–6.271; OR = 1.602, 95% CI = 1.126–2.279). Haplotype T-A-C-T also obviously increased the occurrence risk of osteoporosis (OR = 1.844, 95% CI = 1.180–2.884). Besides, the significant interaction of FGFR2 polymorphisms with drinking status in osteoporosis was also found (P<0.05), especially rs2981579. Conclusion: FGFR2 rs2420946 and rs1219648 polymorphisms may be the risk factor of osteoporosis in Chinese population. Furthermore, the interaction of FGFR2 polymorphisms with drinking may play an important role in osteoporosis etiology.

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Association between CYP3A4 gene rs4646437 polymorphism and the risk of hypertension in Chinese population: a case–control study

Bioscience Reports ◽

10.1042/bsr20190296 ◽

2019 ◽

Vol 39 (4) ◽

Cited By ~ 1

Author(s):

Juan Wang ◽

Hongliang Ji ◽

Helei Jia ◽

Dongsheng Guan

Keyword(s):

Chinese Population ◽

Case Control ◽

Control Group ◽

Case Group ◽

Genotype Distribution ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Increased Risk ◽

Significant Difference ◽

Cyp3a4 Gene

Abstract Using a case–control design, we assessed the association between single nucleotide polymorphisms of CYP3A4 gene rs4646437 polymorphism and the risk of hypertension in Chinese population. We recruited 450 hypertension patients from The First Clinical College, Henan University of Chinese Medicine between June 2017 and May 2018. There was a significant difference in genotype distribution between case group and control group (χ2=18.169, P=0.000). The minor A allele was significantly higher in the case group than that in the control group (31.0 vs 24.8%, P=0.000, odds ratio [OR]=1.36, 95% confidence interval [95% CI]: 1.12–1.66). Significant differences were also observed in other gene models: the GA/AA genotype did not increase the risk of hypertension compared with GG genotype (OR=1.16, 95% CI: 0.90–1.49, P=0.259). Compared with GG/GA genotype, the AA genotype also increased the risk of hypertension (OR=2.34, 95% CI: 1.56–3.50, P=0.000). For additive model, the AA genotype was significantly associated with GG genotype (OR=2.25, 95% CI: 1.49–3.42, P=0.000). The same results were found for AA vs GA (OR=2.50, 95% CI: 1.60–3.89, P=0.000). For the allele genotype, the A allele frequency was significantly higher in the case group than that in the control group (31.0 vs 24.8%, P=0.002). The A allele of CYP3A4 rs4646437 was associated with an increased risk for hypertension (OR=1.36, 95% CI: 1.12–1.66, P=0.002). Our results revealed a possible genetic association between CYP3A4 gene rs4646437 and hypertension, and the AA genotype of rs4646437 increased the risk of hypertension in Chinese Han population, and this effect could be confirmed by multivariable analyses.

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FGFR2 gene polymorphism rs2981582 is associated with non-functioning pituitary adenomas in Chinese Han population: a case–control study

Bioscience Reports ◽

10.1042/bsr20181081 ◽

2018 ◽

Vol 38 (6) ◽

Cited By ~ 3

Author(s):

Bin Zhu ◽

Juan Wang ◽

Lingling Qin ◽

Lei Wang ◽

Yanfei Zheng ◽

...

Keyword(s):

Additive Model ◽

Growth Factor Receptor ◽

Recessive Model ◽

Chinese Han ◽

Fgfr2 Gene ◽

Potential Association ◽

Increased Risk ◽

Significant Difference ◽

Healthy Control

The association of the fibroblast growth factor receptor 2 gene (FGFR2) polymorphism rs2981582 with breast cancer has been extensively studied, whereas the role of this polymorphism in non-functioning pituitary adenoma (NFPA) has not been elucidated. We thus investigated a potential association of rs2981582 with NFPA. A total of 79 patients and 142 healthy control participants were enrolled in our study. DNA of the participants was extracted from peripheral blood samples and genotyped by using the MassARRAY method. We found that the AA genotype was associated with a higher risk of developing NFPA (OR = 1.743, 95%CI: 1.151–2.64, P=0.008). After adjusting for risk factors, significant difference was still observed between the two groups (OR = 1.862, 95%CI: 1.172–2.957, P=0.008). Moreover, under the assumptions of the recessive model (OR = 3.051, 95%CI: 1.403–6.635, P=0.005) and the additive model (AG: OR = 0.329, 95%CI: 0.144–0.755, P=0.009; AA: OR = 0.326, 95%CI: 0.141–0.757, P=0.009), rs2981582 was associated with an increased risk of NFPA. Our results proved that FGFR2 rs2981582 AA genotype was associated with a higher risk of NFPA. The recessive model and additive model also showed increased the risk of NFPA.

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Connection for TESPA1 Polymorphisms to ankylosing spondylitis incidence in the Chinese Population

10.21203/rs.3.rs-28181/v1 ◽

2020 ◽

Author(s):

Hua-Wei Liu ◽

Dai-Xu Wei ◽

Da-Wei He ◽

Jiu-Zheng Deng ◽

Jian-Jin Zhu ◽

...

Keyword(s):

Ankylosing Spondylitis ◽

Chinese Han Population ◽

Control Group ◽

Case Group ◽

Genotype Distribution ◽

Chinese Han ◽

Han Population ◽

Increased Risk ◽

Hardy Weinberg Equilibrium ◽

And Control

Abstract Background The aim of this study was to investigate whether thymocyte-expressed, positive selection-associated 1 (TESPA1) gene polymorphisms were associated with increased risk of developing ankylosing spondylitis(AS) in a Chinese Han population. Methods A total of 99 AS patients were recruited as case group and 96 healthy individuals were collected as control group. TESPA1 polymorphisms were genotyped by polymerase chain reaction (PCR) and sequencing methods. The genotype distribution of TESPA1 gene rs4758993 and rs4758994 polymorphism was detected by Hardy-Weinberg equilibrium (HWE). The genotype and allele distributions of each polymorphism were also compared between groups. Moreover, odds ratios (OR) with 95% confidence intervals (95%CI) were calculated using the χ2 test to evaluate the association between AS susceptibility and TESPA1 polymorphisms. Results rs4758993 and rs4758994 polymorphisms were conformed to be in HWE in genotypes distribution of the control group (P > 0.05 for both). A remarkable decrease trend of rs4758993 AG genotype and A allele were detected in AS patients than in healthy controls (P = 0.01 and 0.02, respectively), indicating that they obviously decreased the risk of AS in a Chinese Han population (OR = 0.303, 95%CI = 0.144–0.637; OR = 0.002, 95%CI = 0.173–0.703). However, No significant differences were detected for TESPA1 gene rs4758994 polymorphism in both genotype and allele distributions between case and control groups (P > 0.05). Conclusions Our findings suggest that TESPA1 gene rs4758993 polymorphism was significantly associated with AS susceptibility in the Chinese Han population and the mutant A allele severed as a protect factor for the development of AS.

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Clinical features of gastroesophageal reflux disease in children with different genotypes of C825T polymorphic loci of GNB3 gene

Journal of Medical Science ◽

10.20883/jms.2017.248 ◽

2017 ◽

Vol 86 (3) ◽

pp. 207

Author(s):

Marta Dats-Opoka ◽

Halyna Makukh

Keyword(s):

Gastroesophageal Reflux Disease ◽

Gastroesophageal Reflux ◽

Nutritional Status ◽

Clinical Features ◽

Reflux Disease ◽

Control Group ◽

Healthy Children ◽

Polymorphic Loci ◽

Increased Risk ◽

Significant Difference

Introduction. Considering the steady growth of the gastroesophageal reflux disease (GERD) in children in recent decades, the difficulty of GERD diagnosing in children, the variety of GERD clinical and morphological features as well as the factors that cause it, including genetic predisposition, a detailed analysis of each of them remains relevant.Aim. To analyze the peculiarities of nutritional status in children with GERD and its correlation with the different genotypes of C825T polymorphic loci of GNB3 gene as well as its association with different GERD clinical manifestations.Material and Methods. The analysis of GERD clinical features was carried out and the nutritional status in 100 children of school age was estimated. Molecular and genetic research of C825T loci of GNB3 gene using PCR method (rs5443) was carried out in the studied group (100 children) and in 40 healthy children that formed the control group.Results. The distribution of the genotypes of C825T polymorphic loci of the GNB3 gene in children with GERD and healthy children in the control group did not have any statistically significant difference (χ2 = 0.27, р = 0.87). Among more than a half of the children in both groups, the GNB3 825ST heterozygous genotype were detected (54.0% of the experimental group and 57.5% of the control group), according to de Vries et al. data is a factor of GERD increased risk. The association between the genotype of C825T locus of GNB3 gene and the data of intragastric endoscopy with pH monitoring was found: in patients with hyperacidic GERD the genotype 825CT was predominantly revealed, and in children with normal and hypoacidic GERD a higher frequency of the 825TT genotype was found. In children with GERD having a lack of the nutritional status (61%), the genotype 825CT (61.82%, p = 0.013) and 825TT (100%, p = 0.005) of the GNB3 gene were detected significantly more often.Conclusions. The distribution of the genotypes of C825T polymorphic loci of the GNB3 gene in children with GERD was determined. Differences in GERD development depending on the different GNB3 genotypes were not detected. The distribution of the genotypes of C825T loci of the GNB3 gene remained unchanged at different GERD clinical manifestations. The presence of 825CT and 825TT genotypes of GNB3 gene in patients with GERD is associated with a decrease in physical development signs. The association between genotype of C825T loci of GNB3 gene and pH intragastric endoscopy data was identified: in patients with hyperacidity GERD 825CC genotype was usually found, and in children with normal- and hypoacidity GERD 825TT genotype was usually found.

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Polymorphism –509C/T in TGFB1 Promoter Is Associated With Increased Risk and Severity of Persistent Allergic Rhinitis in a Chinese Population

American Journal of Rhinology and Allergy ◽

10.1177/1945892420913441 ◽

2020 ◽

Vol 34 (5) ◽

pp. 597-603

Author(s):

Xin-Jie Zhu ◽

Mei-Ping Lu ◽

Ruo-Xi Chen ◽

Dong-Yun Bu ◽

Lu-Ping Zhu ◽

...

Keyword(s):

Allergic Rhinitis ◽

Chinese Population ◽

Immunoglobulin E ◽

Han Chinese ◽

Genotype Frequency ◽

Control Group ◽

Healthy Controls ◽

Increased Risk ◽

Significant Difference ◽

Tgfb1 Gene

Background Polymorphism –509C/T in the promoter of transforming growth factor beta1 ( TGFB1) gene is implicated in the pathogenesis of asthma. This polymorphism might also act to regulate the development of allergic rhinitis (AR). Objectives To investigate whether –509C/T is associated with AR susceptibility and severity in a Han Chinese population. Methods The study enrolled 263 patients with persistent AR and 249 healthy controls. AR patients were classified as mild or moderate/severe AR groups according to the Allergic Rhinitis and its Impact on Asthma classification. TGFB1 gene polymorphism –509C/T was genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Serum total Immunoglobulin E (IgE) and specific IgE levels were determined using an ImmunoCAP. Results Significant difference was found in the allele frequency of TGFB1 –509C/T between AR patients and healthy controls ( P = .027) but not in the genotype frequency ( P =.051). However, the genotype frequency of TGFB1 –509C/T showed significant difference between the mild AR group, the moderate/severe AR group, and the control group ( P = .012); between the moderate/severe AR group and the control group ( P =.036); between the mild AR group and the moderate/severe AR group ( P = .038); but not between the mild AR group and the control group ( P =.075). Conclusion TGFB1 promoter polymorphism –509C/T may be associated with the susceptibility and the severity of persistent AR of Han Chinese, but the functional relationship still needs clarification.

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Role of CASP7 polymorphisms in noise-induced hearing loss risk in Han Chinese population

Scientific Reports ◽

10.1038/s41598-021-81391-5 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Yanmei Ruan ◽

Jinwei Zhang ◽

Shiqi Mai ◽

Wenfeng Zeng ◽

Lili Huang ◽

...

Keyword(s):

Hearing Loss ◽

Chinese Population ◽

Conditional Logistic Regression ◽

Han Chinese ◽

Control Group ◽

Environment Interaction ◽

Noise Induced Hearing Loss ◽

Han Chinese Population ◽

Hearing Thresholds ◽

Increased Risk

AbstractGenetic factors and gene-environment interaction may play an important role in the development of noise induced hearing loss (NIHL). 191 cases and 191 controls were selected by case–control study. Among them, case groups were screened from workers exposed to noise in binaural high-frequency hearing thresholds greater than 25 dB (A). Workers with hearing thresholds ≤ 25 dB (A) in any binaural frequency band were selected to the control group, based on matching factors such as age, exposure time to noise, and operating position. The blood samples from two groups of workers were subjected to DNA extraction and SNP sequencing of CASP3 and CASP7 genes using the polymerase chain reaction ligase detection reaction method. Conditional logistic regression correction was used to analyze the genetic variation associated with susceptibility to NIHL. There was an association between rs2227310 and rs4353229 of the CASP7 gene and the risk of NIHL. Compared with the GG genotype, the CC genotype of rs2227310 reduced the risk of NIHL. Compared with CC genotype, the TT genotype of rs4353229 reduced the risk of NIHL. Workers carrying the rs2227310GG and rs4353229CC genotype had an increased risk of NIHL compared to workers without any high-risk genotype. There were additive interaction and multiplication interaction between CASP7rs2227310 and CNE, and the same interaction between CASP7rs4353229 and CNE. The interaction between the CASP7 gene and CNE significantly increased the risk of NIHL. The genetic polymorphisms of CASP7rs2227310GG and CASP7rs4353229CC were associated with an increased risk of NIHL in Han Chinese population and have the potential to act as biomarkers for noise-exposed workers.

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The ANGPTL8 rs2278426 (C/T) Polymorphism Is Associated with Prediabetes and Type 2 Diabetes in a Han Chinese Population in Hebei Province

International Journal of Endocrinology ◽

10.1155/2020/1621239 ◽

2020 ◽

Vol 2020 ◽

pp. 1-8

Author(s):

Guangsen Hou ◽

Yong Tang ◽

Luping Ren ◽

Yunpeng Guan ◽

Xiaoyu Hou ◽

...

Keyword(s):

Type 2 Diabetes ◽

Chinese Population ◽

Han Chinese ◽

Hebei Province ◽

Control Group ◽

Chi Square ◽

Han Chinese Population ◽

Increased Risk ◽

Bonferroni Test

Background. Our aim was to investigate the association between the genetics of the angiopoietin protein-like 8 (ANGPTL8) rs2278426 (C/T) polymorphism with prediabetes (pre-DM) and type 2 diabetes (T2DM) in a Han Chinese population in Hebei Province, China. Methods. We enrolled 1,460 participants into this case-control study: healthy controls, n = 524; pre-DM, n = 460; and T2DM: n = 460. Ligase assays on blood samples from all participants were used to identify polymorphisms. Differences in genotype and allele distributions were compared by the chi-square test and one-way analysis of variance, and a post hoc pairwise analysis was performed using the Bonferroni test. The logistic regression technique was adjusted for age, sex, and body mass index. Results. The frequency of the TT (10.9%) genotype was significantly higher in pre-DM patients than in controls (odds ratio [OR] = 1.696, 95% confidence interval [CI] = 1.026–2.802, P = 0.039 ). In the T2DM group, the CT (48%) and TT (15%) genotypes were significantly higher compared with those in the control group (CT : OR = 1.384, 95% CI = 1.013–1.890, P = 0.041 ; TT : OR = 2.530, 95% CI = 1.476–4.334, P = 0.001 ). The frequency of the T allele was significantly higher in the pre-DM (32.8%) and T2DM (39%) groups compared with the control group (26.9%) and was significantly associated with an increased risk of pre-DM (OR = 1.253, 95% CI = 1.017–1.544, P = 0.034 ) and T2DM (OR = 1.518, 95% CI = 1.214–1.897, P = 0.001 ). Furthermore, insulin levels in the pre-DM and T2DM groups were significantly decreased in those with the TT genotype compared with the CC and CT genotypes. Conclusion. ANGPTL8 rs2278426 may be involved in the mechanism of insulin secretion and could lead to an increased risk of pre-DM and T2DM.

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A Study of Wideband Energy Reflectance in Patients with Otosclerosis: Data from a Chinese Population

BioMed Research International ◽

10.1155/2019/2070548 ◽

2019 ◽

Vol 2019 ◽

pp. 1-8 ◽

Cited By ~ 4

Author(s):

Suju Wang ◽

Wenyang Hao ◽

Chunxiao Xu ◽

Daofeng Ni ◽

Zhiqiang Gao ◽

...

Keyword(s):

Resonance Frequency ◽

Racial Differences ◽

Chinese Population ◽

Ambient Pressure ◽

Control Group ◽

Age And Gender ◽

Significant Difference ◽

And Gender ◽

And Control ◽

Peak Pressures

Objective(s). The purpose of this study was to explore the effectiveness of wideband acoustic immittance (WAI) in the diagnosis of otosclerosis by comparing the differences in the energy reflectance (ER) of WAI between patients with otosclerosis and age- and gender-matched normal hearing controls in the Chinese population. Methods. Twenty surgically confirmed otosclerotic ears were included in the otosclerotic group. The ER of WAI at ambient and peak pressures, resonance frequency, and 226-Hz tympanogram were collected prior to surgery using a Titan hearing test platform (Interacoustics A/S, Middelfart, Denmark). All diagnoses of otosclerosis in the tested ear were confirmed by surgery after the measurements. Thirteen normal adults (26 ears) who were age- and gender-matched with the otosclerotic patients were included as the control group. Results. At peak pressure, the ERs of otosclerotic patients were higher than those of the control group for frequencies less than 4,000Hz and were lower for frequencies greater than 4,000Hz. In addition, within the analyzed frequencies, the differences observed at 2,520Hz was statistically significant (p<0.05/16=0.003, Bonferroni corrected). At ambient pressure, the differences observed at 1,260 and 6,350Hz were statistically significant (p<0.05/16=0.003, Bonferroni corrected). Although the differences between the otosclerotic and control groups exhibited similar trends to those in studies implemented in Caucasian populations, the norms in the present study in the control group were different from those in the Caucasian populations, suggesting racial differences in WAI test results. Regarding the middle ear resonance frequency, no significant difference was observed between the two groups (P>0.05). Conclusion. WAI can provide valuable information for the diagnosis of otosclerosis in the Chinese population. Norms and diagnostic criteria corresponding to the patient’s racial group are necessary to improve the efficiency of WAI in the diagnosis of otosclerosis.

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Impaired atrial electromechanical coupling in lichen planus patients

European Heart Journal - Cardiovascular Imaging ◽

10.1093/ehjci/jeaa356.109 ◽

2021 ◽

Vol 22 (Supplement_1) ◽

Author(s):

I Jafaripour ◽

Z Aryanian ◽

S Hosseinzadeh ◽

R Pourkia ◽

MM Ansari Ramandi ◽

...

Keyword(s):

Lichen Planus ◽

Electromechanical Coupling ◽

Wave Dispersion ◽

Tissue Doppler ◽

P Wave ◽

Control Group ◽

P Value ◽

P Wave Dispersion ◽

Increased Risk ◽

Significant Difference

Abstract Funding Acknowledgements Type of funding sources: None. Introduction Lichen planus (LP) which is a chronic inflammatory disease can cause impaired atrial electromechanical coupling, leading to increased risk of atrial fibrillation. Purpose The present study aimed to evaluate atrial electromechanical coupling in LP patients by using electrocardiography (ECG) and echocardiography. Methods Forty-six LP patients were investigated in this cross-sectional case-control study. The control group comprised healthy individuals selected in age and gender-matched manner. Echocardiography and ECG were done for all patients to show inter and intra-atrial electromechanical delays and P wave dispersion respectively. The electromechanical delays were calculated by using the difference between the delays from the onset of the P wave on ECG to the onset of A wave on tissue Doppler recordings of the different areas. Results The baseline characteristics of the case and control group were similar and did not differ significantly. The P wave dispersion was 45.63 ± 3.48 milliseconds in the LP group in comparison to 36.56 ± 2.87 milliseconds in the control group (p < 0.001). As shown in the table, the intra and inter-atrial electromechanical delays were also significantly prolonged in LP patients when compared to the control group (p < 0.001). There was no significant difference between the left and right ventricular systolic function and diastolic function of the two groups. Conclusion The results of the study indicate the presence of significant impaired atrial electromechanical coupling in patients with LP confirmed by both electrocardiographic and echocardiographic tools. Electromechanical delays Case N = 46 (mean ± SD) Control N = 46 (mean ± SD) P value Septal - PA (msec) 59.71 ± 13.24 44.39 ± 11.07 0.002 Lateral - PA (msec) 55.71 ± 13.26 48.89 ± 11.21 0.009 Tricuspid - PA (msec) 52.37 ± 13.12 43.28 ± 10.58 0.002 Inter-atrial delay (msec) (lateral PA−RV PA) 8.47 ± 1.62 6.37 ± 1.36 <0.001 Intra-atrial delay (msec) (LA) [lateral PA−septal PA] 4.80 ± 1.48 3.83 ± 0.82 <0.001 Intra-atrial delay (msec) (RA) [septal PA−RV PA] 3.91 ± 0.96 2.02 ± 0.71 <0.001 PA Delay from the onset of the P wave on ECG to the onset of A wave on tissue Doppler, N: number, SD: Standard Deviation, LA: Left Atrium, RA: Right Atrium, RV: Right Ventricle

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Lack of association between polymorphisms in the UBASH3A gene and autoimmune thyroid disease: a case control study

Arquivos Brasileiros de Endocrinologia & Metabologia ◽

10.1590/0004-2730000003209 ◽

2014 ◽

Vol 58 (6) ◽

pp. 640-645 ◽

Cited By ~ 3

Author(s):

TianTian Cai ◽

Xuan Wang ◽

Fatuma-Said Muhali ◽

RongHua Song ◽

XiaoHong Shi ◽

...

Keyword(s):

Thyroid Disease ◽

Autoimmune Thyroid Disease ◽

Chinese Han Population ◽

Control Group ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Han Population ◽

Autoimmune Thyroid ◽

Allelic Frequencies ◽

Significant Difference

Objective: The aim of this study was to investigate UBASH3A gene variation association with autoimmune thyroid disease and clinical features in a Chinese Han population. Subjects and methods: A total of 667 AITD patients (417 GD and 250 HT) and 301 healthy controls were genotyped for two single nucleotide polymorphisms (SNPs) rs11203203, rs3788013 of UBASH3A gene, utilizing the Matrix Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometer (MALDI-TOF-MS) Platform. Results: Between the control group and AITD, GD and HT group, no statistically significant difference was observed in the genotypic and allelic frequencies of the two SNPs. There was no significant difference in allelic frequencies of the two SNPs between GD with and without ophthalmopathy. There was no significant difference in haplotype distributions between the control group and AITD, GD or HT group. Conclusion: Rs11203203 and rs3788013 in UBASH3A gene may not be associated with AITD patients in Chinese Han population.

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