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

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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Association between the ACYP2 Polymorphisms and IgAN Risk in the Chinese Han Population

Kidney & Blood Pressure Research ◽

10.1159/000501703 ◽

2019 ◽

Vol 44 (4) ◽

pp. 810-822

Author(s):

Gang Jin ◽

Yan Liang ◽

Xiaohui Yan ◽

Linping Zhang ◽

Zhenjiang Li ◽

...

Keyword(s):

Association Studies ◽

Immunoglobulin A ◽

Additive Model ◽

Recessive Model ◽

Chinese Han Population ◽

Nucleotide Polymorphisms ◽

Bonferroni Correction ◽

Chinese Han ◽

Han Population ◽

Increased Risk

Background/Aims: The association between ACYP2(Acylphosphatase 2) polymorphisms and immunoglobulin A nephropathy (IgAN) risk in the Chinese Han population remains unclear. We aimed to evaluate the association between ACYP2 polymorphisms and IgAN risk by performing a case-control study. Methods: Eleven ACYP2 single nucleotide polymorphisms (SNPs) from 416 IgAN patients and 495 healthy controls were genotyped using the Sequenom MassARRAY platform. Odds ratio (OR) and 95% confidence interval (CI) were calculated to evaluate the association of ACYP2 polymorphisms with IgAN risk. Results: We observed that rs843720 was significantly associated with an increased risk of IgAN (allele G: OR = 1.23, 95% CI: 1.01–1.49, p = 0.036; dominant model: OR = 1.55, 95% CI: 1.01–2.37, p =0.044; log-additive model: OR = 1.43, 95% CI: 1.04–1.95, p = 0.026) before Bonferroni correction. The SNP rs12615793 was also significantly associated with an increased IgAN risk in the recessive model (OR = 3.33, 95% CI: 1.05–10.51, p = 0.042) before Bonferroni correction. Conclusion: These findings suggested that polymorphisms (rs843720 and rs12615793) of ACYP2 may be pivotal in the development of IgAN. However, more functional and association studies with larger sample sizes should be performed to further validate our results in the future.

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

Bioscience Reports ◽

10.1042/bsr20190275 ◽

2019 ◽

Vol 39 (6) ◽

Cited By ~ 1

Author(s):

Yang Yang ◽

Mengxue Fei ◽

Xinying Zhou ◽

Yuejun Li ◽

Dadi Jin

Keyword(s):

Clinical Features ◽

Chinese Population ◽

Control Group ◽

Chinese Han ◽

Fgfr2 Gene ◽

Increased Risk ◽

Significant Difference ◽

The Status ◽

Drinking Status ◽

Hardy Weinberg Equilibrium

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 of GTF2I, NFKB1, and TYK2 Regional Polymorphisms With Systemic Sclerosis in a Chinese Han Population

Frontiers in Immunology ◽

10.3389/fimmu.2021.640083 ◽

2021 ◽

Vol 12 ◽

Author(s):

Chenxi Liu ◽

Songxin Yan ◽

Haizhen Chen ◽

Ziyan Wu ◽

Liubing Li ◽

...

Keyword(s):

Systemic Sclerosis ◽

Genetic Model ◽

Additive Model ◽

Recessive Model ◽

Chinese Han Population ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Association Analyses ◽

Han Population ◽

Increased Risk

ObjectivesSystemic sclerosis (SSc) is an uncommon autoimmune disease that varies with ethnicity. Single nucleotide polymorphisms (SNPs) in the GTFSI, NFKB1, and TYK2 genes have been reported to be associated with SSc in other populations and in individuals with various autoimmune diseases. This study aimed to investigate the association between these SNPs and susceptibility to SSc in a Chinese Han population.MethodA case-control study was performed in 343 patients with SSc and 694 ethnically matched healthy controls. SNPs in GTF2I, NFKB1, and TYK2 were genotyped using a Sequenom MassArray iPLEX system. Association analyses were performed using PLINK v1.90 software.ResultOur study demonstrated that the GTF2I rs117026326 T allele and the GTF2I rs73366469 C allele were strongly associated with patients with SSc (P = 6.97E-10 and P = 1.33E-08, respectively). Patients carrying the GTF2I rs117026326 TT genotype and the GTF2I rs73366469 CC genotype had a strongly increased risk of SSc (P = 6.25E-09 and P = 1.67E-08, respectively), and those carrying the NFKB1 rs1599961 AA genotype had a suggestively significantly increased risk of SSc (P = 0.014). Moreover, rs117026326 and rs73366469 were associated with SSc in different genetic models (additive model, dominant model, and recessive model) (P < 0.05) whereas rs1599961 was associated with SSc in the dominant genetic model but not in the addictive and recessive models (P = 0.0026). TYK2 rs2304256 was not significantly associated with SSc in this study.ConclusionGTF2I rs117026326 and rs73366469 SNPs were strongly associated with SSc in this Chinese Han population. NFKB1 rs1599961 showed a suggestive association with SSc, and no significant association was found between TYK2 rs2304256 and SSc in this Chinese Han population.

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Association between the PDE4D gene and ischaemic stroke in the Chinese Han population

Clinical Science ◽

10.1042/cs20080471 ◽

2009 ◽

Vol 117 (7) ◽

pp. 265-272 ◽

Cited By ~ 19

Author(s):

Yun Sun ◽

Yanyan Huang ◽

Xu Chen ◽

Yun Liu ◽

Xiaozhe Lu ◽

...

Keyword(s):

Ischaemic Stroke ◽

Eastern China ◽

Chinese Han Population ◽

Chinese Han ◽

Unrelated Control ◽

Han Population ◽

Increased Risk ◽

Significant Difference ◽

Stroke Group

Recent findings suggests that PDE4D (gene encoding phosphodiesterase 4D) is a stroke-related gene in the Icelandic population, but it is still very controversial as to whether it is a susceptible gene for stroke in other populations. In the present study, we attempted to explore the role of the gene in the pathogenesis of stroke in the Chinese Han population of eastern China. A total of 649 ischaemic stroke patients and 761 unrelated control individuals with no history of stroke or transient ischaemic attack were examined in a case-control study. Four SNPs (single nucleotide polymorphisms) rs152312 (C/T), SNP56 (A/T), SNP83 (C/T) and SNP87 (C/T) with a minor allele frequency over 5% were genotyped and the corresponding haplotypes were constructed. In an analysis of the combined cardiogenic and carotid stroke group, both the allele (P=0.0060) and genotype (P=0.0160) frequencies between cases and controls at SNP83 showed significant differences. However, no difference in haplotype frequencies was observed between cases and controls at rs152312 and SNP56. In the analysis of the small-artery-occlusive stroke group, no difference in allele or genotype frequencies was observed at any marker between cases and controls; the global haplotype frequency in rs152312 and SNP56 had a significant difference between cases and controls (P=0.0162); the frequency of haplotype C-A was higher in cases than in controls (P=0.0122). In conclusion, our present findings show that polymorphisms in the PDE4D gene are associated with an increased risk of ischaemic stroke in the Chinese Han population. The present study adds further support to the role of PDE4D in stroke.

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Association of putative functional variants in the PLAU gene and the PLAUR gene with myocardial infarction

Clinical Science ◽

10.1042/cs20100151 ◽

2010 ◽

Vol 119 (8) ◽

pp. 353-359 ◽

Cited By ~ 7

Author(s):

Jing Xu ◽

Wenlong Li ◽

Xunna Bao ◽

Hu Ding ◽

Jingzhou Chen ◽

...

Keyword(s):

Myocardial Infarction ◽

Additive Model ◽

Recessive Model ◽

Chinese Han ◽

Control Subjects ◽

Functional Variants ◽

Increased Risk ◽

Functional Genetic Variation ◽

Genes Encoding ◽

Plaque Destabilization

uPA (urokinase-plasminogen activator) and its receptor (uPAR) have been implicated in a broad spectrum of pathophysiological processes, including fibrinolysis, proteolysis, inflammation, atherogenesis and plaque destabilization, all of which are involved in the pathogenesis of MI (myocardial infarction). We hypothesized that putative functional genetic variation in the two genes encoding uPA and uPAR (PLAU and PLAUR respectively) might influence the susceptibility to MI. We genotyped rs4065 [3′-UTR (untranslated region) *141C>T) and rs2227564 (Pro141Leu) in the PLAU gene as well as rs344781 (−516T>C) in the PLAUR gene in 633 MI patients and 1237 gender- and age-matched control subjects. Our results showed that the T allele of rs4065 was significantly associated with an increased risk of MI, with an adjusted OR (odds ratio) of 1.38 [95% CI (confidence interval), 1.07–1.78; P=0.012) under the dominant model, 1.4 (95% CI, 1.12–1.75; P=0.003) under the additive model and 2.5 (95% CI, 1.15–5.41; P=0.02) under the recessive model. The findings were then replicated in another independent case-control study including 545 MI patients and 597 control subjects. In conclusion, our results suggest that rs4065 might be a previously unknown genetic risk factor for MI in the Chinese Han population.

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The Vitamin D Receptor (VDR) Gene Polymorphisms in Turkish Brain Cancer Patients

BioMed Research International ◽

10.1155/2013/295791 ◽

2013 ◽

Vol 2013 ◽

pp. 1-6 ◽

Cited By ~ 8

Author(s):

Bahar Toptaş ◽

Ali Metin Kafadar ◽

Canan Cacina ◽

Saime Turan ◽

Leman Melis Yurdum ◽

...

Keyword(s):

Vitamin D ◽

Cancer Patients ◽

Vitamin D Receptor ◽

Brain Cancer ◽

Gene Polymorphisms ◽

Vdr Gene ◽

Increased Risk ◽

Vdr Gene Polymorphisms ◽

Significant Difference ◽

Healthy Control

Objective. It has been stated that brain cancers are an increasingly serious issue in many parts of the world. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of glioma and meningioma.Methods. We investigated the VDR Taq-I and VDR Fok-I gene polymorphisms in 100 brain cancer patients (including 44 meningioma cases and 56 glioma cases) and 122 age-matched healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism (RF LP).Results. VDR Fok-I ff genotype was significantly increased in meningioma patients (15.9%) compared with controls (2.5%), and carriers of Fok-I ff genotype had a 6.47-fold increased risk for meningioma cases. There was no significant difference between patients and controls for VDR Taq-I genotypes and alleles.Conclusions. We suggest that VDR Fok-I genotypes might affect the development of meningioma.

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Association of the CACNA2D2 gene with schizophrenia in Chinese Han population

PeerJ ◽

10.7717/peerj.8521 ◽

2020 ◽

Vol 8 ◽

pp. e8521

Author(s):

Yingli Fu ◽

Na Zhou ◽

Wei Bai ◽

Yaoyao Sun ◽

Xin Chen ◽

...

Keyword(s):

Calcium Channel ◽

Chinese Women ◽

Han Chinese ◽

Type I ◽

Genotype Distribution ◽

Healthy Controls ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Increased Risk ◽

Significant Difference

Background Schizophrenia (SCZ) is a severely complex psychiatric disorder in which ~80% can be explained by genetic factors. Single nucleotide polymorphisms (SNPs) in calcium channel genes are potential genetic risk factors for a spectrum of psychiatric disorders including SCZ. This study evaluated the association between SNPs in the voltage-gated calcium channel auxiliary subunit alpha2delta 2 gene (CACNA2D2) and SCZ in the Han Chinese population of Northeast China. Methods A total of 761 SCZ patients and 775 healthy controls were involved in this case-control study. Three SNPs (rs3806706, rs45536634 and rs12496815) of CACNA2D2 were genotyped by the MALDI-TOF-MS technology. Genotype distribution and allele frequency differences between cases and controls were tested by Chi-square (χ2) in males and females respectively using SPSS 24.0 software. Linkage disequilibrium and haplotype analyses were conducted using Haploview4.2. The false discovery rate correction was utilized to control for Type I error by R3.2.3. Results There was a significant difference in allele frequencies (χ2 = 9.545, Padj = 0.006) and genotype distributions (χ2 = 9.275, Padj = 0.006) of rs45536634 between female SCZ patients and female healthy controls after adjusting for multiple comparisons. Minor allele A (OR = 1.871, 95% CI [1.251–2.798]) and genotype GA + AA (OR = 1.931, 95% CI [1.259–2.963]) were associated with an increased risk of SCZ. Subjects with haplotype AG consisting of rs45536634 and rs12496815 alleles had a higher risk of SCZ (OR = 1.91, 95% CI [1.26–2.90]) compared those with other haplotypes. Conclusions This study provides evidence that CACNA2D2 polymorphisms may influence the susceptibility to SCZ in Han Chinese women.

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THE ROLE OF INTERLEUKIN 1β GENE POLYMORPHISM IN DEVELOPMENT OF PREDOMINANTY SENSORY CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY

Medical Immunology (Russia) ◽

10.15789/1563-0625-2019-1-141-148 ◽

2019 ◽

Vol 21 (1) ◽

pp. 141-148

Author(s):

T. E. Popova ◽

N. A. Shnayder ◽

M. M. Petrova ◽

A. A. Tappakhov

Keyword(s):

Chronic Inflammatory Demyelinating Polyneuropathy ◽

Study Groups ◽

Krasnoyarsk Region ◽

Genotype Frequencies ◽

Increased Risk ◽

Significant Difference ◽

Risk Of Disease ◽

T Locus ◽

Il1b Gene

The aim of the present study was a search for associations between the polymorphic allelic variants 3954 C>T (rs1143644) and -511C>T (rs16944) of IL1B gene in the patients with sensory predominant chronic inflammatory demyelinating polyneuropathies (SP-CIDP) from Krasnoyarsk Region and the Sakha (Yakutia) Republic. A total of 95 people were examined, having been divided into 2 groups according to their residence. The first group consisted of 42 patients living in the Sakha (Yakutia) Republic. The second group included 53 patients living in the Krasnoyarsk Region. It was revealed that the carriers of homozygous CC genotype in the 3954C>T locus were more often detected in patients from the Sakha (Yakutia) Republic, and the carriage of TT genotype is found exclusively in the patients from Krasnoyarsk Region. When comparing the different genotype frequencies in the -511CT locus, we did not reveal any statistically significant differences between the two groups of patients. Presence of the CC genotype of the 3954C>T locus was associated with a significantly increased risk of disease in the patients from Sakha (Yakutia) Republic, while carrying CT and TT genotypes at the locus 3954C>T and the TT genotype at the locus -511C>T, is associated with increased risk disorder among patients of the Krasnoyarsk Region. The frequency of carriage of various genotypes in the 3954C>T and -511C>T loci of the IL1B gene was prevalent among the patients from the Sakha (Yakutia) Republic, the association of genotypes of CC/CT prevailed in patients from the Krasnoyarsk Region (p = 0.005), as well as prevalence of CC/CC and CC/CT (p = 0.023). However, there was no statistically significant difference in occurrence of individual genotypes between the two study groups. When analyzing the carrier frequency of high-producing alleles of 3954C and -511C in patients with SP-CIDP, it was shown that they were significantly more common among patients from the Sakha (Yakutia) Republic and patients from the Krasnoyarsk Region than the low-producing 3954T and -511T alleles. Moreover, the 3954C allele was more often found in the Yakut group (p = 0.001), and in the -511C allele for the Krasnoyarsk group of patients (p = 0.05). The presence of 3954C and -511C alleles increases the risk of SP-CIDP development in patients from the Sakha (Yakutia) Republic, as well as carriage of 3954T allele in patients from the Krasnoyarsk Region.

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An Interdependence between Estrogen Receptor 1 Gene Polymorphisms and Susceptibility to Breast Cancer

Trends in Medical Sciences ◽

10.5812/tms.117221 ◽

2021 ◽

Vol In Press (In Press) ◽

Author(s):

Maryam Saneipour ◽

Abdolkarim Sheikhi ◽

Abbas Moridnia

Keyword(s):

Breast Cancer ◽

Estrogen Receptor ◽

Allele Frequency ◽

Genetic Alterations ◽

Recessive Model ◽

Control Group ◽

Genotype Distribution ◽

Increased Risk ◽

Significant Difference ◽

Estrogen Receptor 1

Background: Breast cancer (BC) is the most common malignant tumor in women around the world. Genetic factors do play a vital role in the development and progression of BC. Genetic alterations in the ESR1 (estrogen receptor 1) gene can lead to estrogen dysfunction and increased risk for BC. Nevertheless, due to genetic diversity, the information from different studies is contradictory and controversial. Objectives: This study aimed to investigate the potential relationship between the rs1801132 and rs2234693 single nucleotide polymorphism (SNPs) of the ESR1 gene with susceptibility to BC in the Iranian population. Methods: The genotyping of the rs2234693 and rs1801132 SNPs was assessed in 63 BC patients referred to Imam Hasan Mojtaba Center, which is a charity-based foundation for cancer care in Dezful, Iran, from March 2018 to November 2019. Also, 65 healthy women were selected as a control group. The genotyping of the SNPs was performed using the high-resolution melting (HRM) technique and confirmed by DNA sequencing. Results: The genotype distribution and allele frequency of the rs2234693 SNP were significantly different in BC patients compared to the control group (genotype frequency with P = 0.018 and allele frequency with P = 0.004, OR = 2.085, 95% CI = 1.253 -3.468). In genetic models, rs2234693 increased BC risk in recessive model (P = 0.005, OR = 2.813, 95% CI = 1.363 - 5.802). However, there was no significant difference regarding genotype distribution of the rs1801132 SNP between the BC patients and controls. Conclusions: Our results showed that the CC genotype of the rs2234693 SNP is significantly associated with BC. Accordingly, it can be suggested that the rs2234693 SNP be considered for susceptibility to BC.

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Genetic susceptibility of five tagSNPs in the endothelin-1 (EDN1) gene to coronary artery disease in a Chinese Han population

Bioscience Reports ◽

10.1042/bsr20171320 ◽

2018 ◽

Vol 38 (5) ◽

Cited By ~ 4

Author(s):

Li-li Liang ◽

Lin Chen ◽

Meng-yuan Zhou ◽

Meng-yun Cai ◽

Jie Cheng ◽

...

Keyword(s):

Coronary Artery Disease ◽

Coronary Artery ◽

Chinese Han Population ◽

Chinese Han ◽

Han Population ◽

Endothelin 1 ◽

Increased Risk ◽

Artery Disease ◽

Cad Risk

Endothelin-1 (ET-1) plays important roles in endothelial dysfunction, vascular physiology, inflammation, and atherosclerosis. Nonetheless, the role of ET-1 (EDN1) gene variants on coronary artery disease (CAD) risk remains poorly understood. The aim of the present study was to evaluate the role of EDN1 gene polymorphisms on individual susceptibility to CAD. We genotyped five tagSNPs (single-nucleotide polymorphisms) (rs6458155, rs4145451, rs9369217, rs3087459, and rs2070699) within EDN1 gene in 525 CAD patients and 675 control subjects. In a multivariate logistic regression analysis, we detected an association of rs6458155 in EDN1 gene with the CAD risk; compared with the TT homozygotes, the CT heterozygotes (odds ratio (OR) = 1.53, 95% confidence interval (CI) = 1.02–2.29, P=0.040) and the CC homozygotes (OR = 1.55, 95% CI = 1.01–2.36, P=0.043) were statistically significantly associated with the increased risk for CAD. A similar trend of the association was found in dominant model (OR = 1.53, 95% CI = 1.05–2.25, P=0.029). Consistently, the haplotype rs6458155C-rs4145451C containing rs6458155 C allele exhibited the increased CAD risk (OR = 1.22, 95% CI = 1.03–1.43, and P=0.018). In addition, CT genotype of rs6458155 conferred the increased plasma ET-1 levels compared with TT genotype (P<0.05). No association of the other four tagSNPs in EDN1 gene with CAD risk was observed. In conclusion, our study provides the first evidence that EDN1 tagSNP rs6458155 is associated with CAD risk in the Chinese Han population, which is probably due to the influence of the circulating ET-1 levels.

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