The KIAA0319 Gene Polymorphisms are Associated with Developmental Dyslexia in Chinese Uyghur Children

To investigate the association of KIAA0319 gene polymorphisms and developmental dyslexia in individuals of Uyghurian descent. Eighteen single nucleotide polymorphisms (SNP) of gene KIAA0319 were screened in a group of 196 patients with dyslexia and 196 controls of Uyghur descent by determined the genotypes using a custom-by-design 48-Plex SNPscan™ Kit. SAS 9.1.3 software were used for data analysis. Seven SNPs(Pmin=0.001) of KIAA0319 have significant differences between the cases and controls under specific genotype models. Especially for rs6935076(Padjusted=0.020 under dominant model;Padjusted=0.028 under additive model) and rs3756821(Padjusted=0.021 under additive model), which still associated with dyslexia after Bonferroni correction. The linkage disequilibrium analysis showed four block within gene KIAA0319 and only the ten-maker haplotype(P=0.013) in block 4 was significantly more common in dyslexia children than in controls. The results indicated that genetic polymorphisms of KIAA0319 are associated with increased risk of developmental dyslexia in Uyghur population.

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Gene polymorphisms associated with an increased risk of exudative age-related macular degeneration in a Spanish population

European Journal of Ophthalmology ◽

10.1177/11206721211002698 ◽

2021 ◽

pp. 112067212110026

Author(s):

Pablo Gili ◽

Leyre Lloreda Martín ◽

José-Carlos Martín-Rodrigo ◽

Naon Kim-Yeon ◽

Laura Modamio-Gardeta ◽

...

Keyword(s):

Macular Degeneration ◽

Gene Polymorphisms ◽

Age Related Macular Degeneration ◽

Spanish Population ◽

Healthy Controls ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Exudative Amd ◽

Age Related ◽

Increased Risk

Purpose: To identify the association between single-nucleotide polymorphisms (SNPs) in CFH, ARMS2, HTRA1, CFB, C2, and C3 genes and exudative age-related macular degeneration (AMD) in a Spanish population. Methods: In 187 exudative AMD patients and 196 healthy controls (61% women, mean age 75 years), 12 SNPs as risk factors for AMD in CFH (rs1410996, rs1061170, r380390), ARMS2 (rs10490924, rs10490923), HTRA1 (rs11200638), CFB (rs641153), C2 (rs547154, rs9332739), and C3 (rs147859257, rs2230199, rs1047286) genes were analyzed. Results: The G allele was the most frequent in CFH gene (rs1410996) with a 7-fold increased risk of AMD (OR 7.69, 95% CI 3.17–18.69), whereas carriers of C allele in CFH (rs1061170) showed a 3-fold increased risk for AMD (OR 3.22, 95% CI 1.93–5.40). In CFH (rs380390), the presence of G allele increased the risk for AMD by 2-fold (OR 2.52, 95% CI 1.47–4.30). In ARMS2 (rs10490924), the T-allele was associated with an almost 5-fold increased risk (OR 5.49, 95% CI 3.23–9.31). The A allele in HTRA1 (rs11200638) was more prevalent in AMD versus controls (OR 6.44, 95% CI 3.62–11.47). In C2 gene (rs9332739) the presence of C increased risk for AMD by 3-fold (OR 3.10, 95% CI 1.06–9.06). Conclusion: SNPs in CFH, ARMS2, HTRA1, and C2 genes were associated in our study with an increased risk for exudative AMD in Spanish patients.

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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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Genetic Variants and Protein Alterations of Selenium- and T-2 Toxin-Responsive Genes Are Associated With Chondrocytic Damage in Endemic Osteoarthropathy

Frontiers in Genetics ◽

10.3389/fgene.2021.773534 ◽

2022 ◽

Vol 12 ◽

Author(s):

Yujie Ning ◽

Minhan Hu ◽

Jiayu Diao ◽

Yi Gong ◽

Ruitian Huang ◽

...

Keyword(s):

Venous Blood ◽

Additive Model ◽

Significant Snps ◽

Recessive Model ◽

Healthy Controls ◽

Dominant Model ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Protein Alterations ◽

New Evidence

The mechanism of environmental factors in Kashin–Beck disease (KBD) remains unknown. We aimed to identify single nucleotide polymorphisms (SNPs) and protein alterations of selenium- and T-2 toxin–responsive genes to provide new evidence of chondrocytic damage in KBD. This study sampled the cubital venous blood of 258 subjects including 129 sex-matched KBD patients and 129 healthy controls for SNP detection. We applied an additive model, a dominant model, and a recessive model to identify significant SNPs. We then used the Comparative Toxicogenomics Database (CTD) to select selenium- and T-2 toxin–responsive genes with the candidate SNP loci. Finally, immunohistochemistry was applied to verify the protein expression of candidate genes in knee cartilage obtained from 15 subjects including 5 KBD, 5 osteoarthritis (OA), and 5 healthy controls. Forty-nine SNPs were genotyped in the current study. The C allele of rs6494629 was less frequent in KBD than in the controls (OR = 0.63, p = 0.011). Based on the CTD database, PPARG, ADAM12, IL6, SMAD3, and TIMP2 were identified to interact with selenium, sodium selenite, and T-2 toxin. KBD was found to be significantly associated with rs12629751 of PPARG (additive model: OR = 0.46, p = 0.012; dominant model: OR = 0.45, p = 0.049; recessive model: OR = 0.18, p = 0.018), rs1871054 of ADAM12 (dominant model: OR = 2.19, p = 0.022), rs1800796 of IL6 (dominant model: OR = 0.30, p = 0.003), rs6494629 of SMAD3 (additive model: OR = 0.65, p = 0.019; dominant model: OR = 0.52, p = 0.012), and rs4789936 of TIMP2 (recessive model: OR = 5.90, p = 0.024). Immunohistochemistry verified significantly upregulated PPARG, ADAM12, SMAD3, and TIMP2 in KBD compared with OA and normal controls (p < 0.05). Genetic polymorphisms of PPARG, ADAM12, SMAD3, and TIMP2 may contribute to the risk of KBD. These genes could promote the pathogenesis of KBD by disturbing ECM homeostasis.

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Association between Single Nucleotide Polymorphisms in Cardiovascular Developmental Critical Genes and Hypertension: A Propensity Score Matching Analysis

International Journal of Hypertension ◽

10.1155/2020/9185697 ◽

2020 ◽

Vol 2020 ◽

pp. 1-8

Author(s):

Zhiqiang Zhao ◽

Chunmei Gong ◽

Yanfang Gao ◽

Xiaoli Liu ◽

Sai Wu ◽

...

Keyword(s):

Propensity Score ◽

Propensity Score Matching ◽

Additive Model ◽

Recessive Model ◽

Cardiovascular Development ◽

Dominant Model ◽

Nucleotide Polymorphisms ◽

Cross Sectional ◽

Single Nucleotide ◽

Propensity Score Matching Analysis

Cardiovascular development critical genes are key determinants in cardiovascular diseases. We hypothesize that SNPs in these genes may play critical roles in the development of hypertension. Therefore, we enrolled 516 paired hypertension patients and controls in a total of 2,742 subjects in a cross-sectional population study by the propensity score matching (PSM) method. Twenty-one SNPs from 5 cardiovascular developmental related genes were detected by the improved multiplex ligase detection reaction (iMLDR) method. Conditioned logistic regression under three different genetic models, namely, additive model, dominant model, and recessive model, was performed. The odds ratio (ORs) and 95% confidence intervals (95% CIs) were used to estimate the associations of SNPs with hypertension. We found that the distribution of genotypes at rs833061, rs3025010, and rs699947 within the VEGFA gene and the distribution of alleles at rs3025010 in hypertension subjects were different from those in controls. Both rs833061 and rs3025010 were associated with hypertension in crude models, but only rs3025010 remains associated with hypertension after adjusting with confounding factors in the additive model and the dominant model. We also found that hypertension subjects with C/T and C/C genotypes at rs3025010 had lower SBP and DBP levels. In addition, rs3025010 could interact with rs6784267 within the CCM3 gene in the association. In conclusion, our findings suggest that rs3025010 may play a role in the pathogenesis of hypertension, which may be a potential target for individualized prevention and treatment of hypertension.

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Impact of COL6A4P2 gene polymorphisms on the risk of lung cancer in a Chinese Han population

10.21203/rs.2.21226/v1 ◽

2020 ◽

Author(s):

Ying Duan ◽

Gaowen Liu ◽

Fanglin Niu ◽

Jing Li ◽

Mengdan Yan ◽

...

Keyword(s):

Lung Cancer ◽

Odds Ratio ◽

Gene Polymorphisms ◽

Additive Model ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Han Population ◽

Codominant Model ◽

Insight Into

Abstract Background The aim of this study was to investigate the effects of COL6A4P2 polymorphisms on lung cancer (LC) in Chinese Han population.Methods To examine whether variants of COL6A4P2 contribute to LC, five single nucleotide polymorphisms (SNPs) of COL6A4P2 were genotyped by Agena MassARRAY in 510 LC patients and 495 controls. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated by logistic regression.Results We found that COL6A4P2 rs34445363 significantly increased the risk of LC in the alleles model (OR = 1.26, 95%CI: 1.01 - 1.58, p = 0.038). And rs34445363 also increased the LC risk under the log-additive model (OR = 1.26, 95%CI: 1.01 - 1.58, p = 0.041) with the multigene model analysis. Further stratification analysis showed that rs34445363 increased the LC risk under the log-additive model (OR = 1.42, 95%CI: 1.03 - 1.95, p = 0.033) in people aged ≤ 61; and rs61733464 was associated with a decreased LC risk in the log-additive model (OR = 0.72, 95%CI: 0.52 - 0.99, p = 0.048) in people aged ≤ 61. We also found that the mutations of rs34445363 and rs77941834 were associated with increased LC risk in the codominant model (rs34445363, GA vs. GG, OR = 1.73, 95%CI: 1.04 - 2.86, p = 0.034; rs77941834, TA vs. TT, OR = 1.88, 95%CI: 1.06 - 3.34, p = 0.032) in females.Conclusions This study provided an evidence for polymorphisms of COL6A4P2 gene associated to the development of LC, also a new insight into etiology of LC.

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Associations of TFEB Gene Polymorphisms With Cognitive Function in Rural Chinese Population

Frontiers in Aging Neuroscience ◽

10.3389/fnagi.2021.757992 ◽

2021 ◽

Vol 13 ◽

Author(s):

Yanfei Wei ◽

Shuzhen Liu ◽

Jiansheng Cai ◽

Xu Tang ◽

Junling Zhang ◽

...

Keyword(s):

Cognitive Impairment ◽

Cognitive Function ◽

Confidence Interval ◽

Gene Polymorphisms ◽

Chinese Population ◽

Case Group ◽

Dominant Model ◽

Nucleotide Polymorphisms ◽

Bonferroni Correction ◽

Study Approach

Background: The study aimed to investigate the relationship between transcription factor EB (TFEB) gene polymorphisms, including their haplotypes, and the cognitive functions of a selected population in Gongcheng County, Guangxi.Methods: A case-control study approach was used. The case group comprised 339 individuals with cognitive impairment, as assessed by their Mini-Mental State Examination scores; the control population also comprised 339 individuals who were matched by sex and age (± 5 years) in a 1:1 ratio. TFEB gene polymorphisms were genotyped in 678 participants (190 men and 488 women, aged 30–91 years) by using the Sequenom MassARRAY platform.Results: Multifactorial logistic regression analysis showed that in the dominant model, the risk of developing cognitive impairment was 1.547 times higher in cases with the TFEB rs14063A allele (AG + AA) than in those with the GG genotype (adjusted odds ratio [OR] = 1.547, Bonferroni correction confidence interval = 1.021–2.345). Meanwhile, the presence of the TFEB rs1062966T allele (CT + TT) was associated with a lower risk of cognitive impairment in comparison with the presence of the CC genotype (adjusted OR = 0.636, Bonferroni correction confidence interval = 0.405–0.998). In the co-dominant model, the risk of developing cognitive impairment was 1.553 times higher in carriers of the TFEB rs14063AG genotype than in carriers of the GG genotype (adjusted OR = 1.553, Bonferroni correction confidence interval = 1.007–2.397). After the Bonferroni correction and adjustment for confounding factors, the association of TFEB rs1062966 with cognitive function persisted in the analyses stratified by education level. Ethnically stratified analysis showed a significant association between TFEB rs1062966 and cognitive function in the Yao population. The multilocus linkage disequilibrium analysis indicated that the identified single nucleotide polymorphisms were not inherited independently. The haplotype analysis suggested that the rs14063A–rs1062966C–rs2278068C–rs1015149T haplotype of the TFEB gene increased the risk of cognitive impairment (P < 0.05) and that the rs14063G–rs1062966T–rs2278068C–rs1015149C haplotype was associated with a reduced risk of cognitive impairment (P < 0.05).Conclusion:TFEB rs1062966 polymorphisms and their rs14063A–rs1062966C–rs2278068C–rs1015149T and rs14063G–rs1062966T–rs2278068C–rs1015149C haplotypes are genetic factors that may affect cognitive function among the rural Chinese population.

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ASSOCIATION OF POLYMORPHISM RS6737848 IN THE SOCS5 GENE WITH BRONCHIAL ASTHMA

Annals of the Russian academy of medical sciences ◽

10.15690/vramn.v68i7.713 ◽

2013 ◽

Vol 68 (7) ◽

pp. 53-56

Author(s):

I. V. Saltykova ◽

M. B. Freidin ◽

E. Yu. Bragina ◽

L. M. Ogorodova ◽

V. P. Puzyrev

Keyword(s):

Immune Response ◽

Length Polymorphism ◽

Additive Model ◽

Dominant Model ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Restriction Fragments ◽

Asthma Patients ◽

Polymorphic Variants

Aim: to investigate the role of polymorphic variants of immune-response modifying genes in predisposition to asthma. Patients and methods. The analysis of restriction fragments length polymorphism was used to investigate 10 single-nucleotide polymorphisms: IFNG rs2069705, IFNGR2 rs17880053, IL4 rs 2070874, IL4RA rs 1805010, GATA3 rs10905277, TBX21 rs11652969, PIASY rs3760903, PIAS3 rs12756687, STAT5β rs16967593, and SOCS5 rs6737848 in 106 asthma patients and 115 healthy people. Results. The rs6737848 SOCS5 polymorphism was significantly associated with asthma in additive model (р =0,05, OR =0,338, 95%CI 0,158–0,723) and in dominant model (р =0,02, OR =0,284, CI 0,126–0,638). None of the polymorphisms of the studied genes was associated with total IgE levels. Conclusions. This is the first report on the association of rs6737848 SOCS5 with asthma.

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Investigation of the association between obesity and insulin-induced gene 1 polymorphism at 7q36.3 region in Uygur population in Xinjiang, China

Bioscience Reports ◽

10.1042/bsr20190498 ◽

2019 ◽

Vol 39 (12) ◽

Author(s):

Jing Tao ◽

Mayila Abudoukelimu ◽

Xin Shen ◽

Jun Liu ◽

Feng-xia Wang ◽

...

Keyword(s):

Metabolic Diseases ◽

Recessive Model ◽

Primary Objective ◽

Obese Patients ◽

Dominant Model ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Heritable Trait ◽

Increased Risk ◽

Control Study

Abstract Background: Obesity is a common heritable trait and a major risk factors of chronic and metabolic diseases. Insulin-induced gene 1 (INSIG1) is known to play important roles in cholesterol and triacylglycerol (TAG) metabolism. In the present study, our primary objective was to explore whether the single nucleotide polymorphisms (SNPs) in INSIG1 gene were associated with obesity in Uygur subjects, in Xinjiang, China. Methods: We designed a case–control study including 516 obese patients and 463 age- and sex-matched control subjects. Three SNPs (rs2721, rs9767875 and rs9719268) were genotyped using TaqMan SNP genotyping assays. Results: For rs2721, the distribution of genotypes, dominant model (GT + TT vs GG), recessive model (TT vs GT + GG) showed significant differences between obese patients and the controls (P = 0.008, P = 0.005 and P = 0.035, respectively). For rs9719268, the distribution of genotypes showed significant differences between obese patients and the controls (P = 0.004). The dominant model (GT + TT vs GG) of rs2721 and rs9719268 GT genotype remain significantly associated with obesity after adjustment for confounders (OR = 1.393, 95% CI = 1.047–1.853, P = 0.023; OR = 1.631, 95% CI = 1.059–2.512, P = 0.026). The TG levels were significantly higher in rs2721 GT/TT genotypes than that in GG genotypes (P<0.05). Conclusions: Rs2721 and rs9719268 of INSIG1 gene are associated with obesity in Uygur subjects. Subjects with GT/TT genotype or T allele of rs2721 and GT genotype of rs9719268 were associated with an increased risk of obesity.

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A case-control study on correlation between the single nucleotide polymorphism of CLEC4E and the susceptibility to tuberculosis among Han people in Western China

BMC Infectious Diseases ◽

10.1186/s12879-021-06448-2 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Wenjing Zhou ◽

Lijuan Wu ◽

Jiajia Song ◽

Lin Jiao ◽

Yi Zhou ◽

...

Keyword(s):

Noncoding Rna ◽

Genetic Model ◽

Western China ◽

Nucleotide Polymorphisms ◽

Bonferroni Correction ◽

Chinese Han ◽

Single Nucleotide ◽

Lectin Receptor ◽

Functional Regions ◽

Increased Risk

Abstract Background Tuberculosis (TB) is one of the leading causes of morbidity and mortality in Western China. Preclinical studies have suggested the protective effect of the C-type lectin receptor of family 4 member E (CLEC4E) from TB. Herein, we investigated the association between CLEC4E gene variants and TB susceptibility in a western Chinese Han population. Methods We genotyped four single nucleotide polymorphisms (SNPs) rs10841856, rs10770847, rs10770855 and rs4480590 in the CLEC4E gene using the improved multiplex ligation detection reaction (iMLDR) assay in 900 TB cases and 1534 healthy controls. Results After stratifying the whole data by sex, it was found that males exhibited mutant allele G of rs10841856 was more strongly associated with increased TB risk after Bonferroni correction (OR = 1.334, 95% CI: 1.142–1.560; P < 0.001 after adjusting for age; p = 0.001 after Bonferroni correction). The genetic model analysis found that rs10841856 was associated with the increased risk of TB among males under the dominant model (OR = 1.557, 95% CI = 1.228–1.984, P < 0.001 after adjusting for age, P < 0.001 after Bonferroni correction). Bioinformatics analysis suggested that rs10841856 might fall in putative functional regions and might be the expression quantitative trait loci (eQTL) for CLEC4E and long noncoding RNA RP11-561P12.5. Conclusions Our study revealed that rs10841856 in the CLEC4E gene might be related to increased TB risk, especially the dominant genetic model among male Han individuals from Western China

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Association between Genetic Polymorphisms of MIR3142HG and the Risk of Steroid-Induced Osteonecrosis of the Femoral Head in the Population of Northern China

Public Health Genomics ◽

10.1159/000519577 ◽

2021 ◽

pp. 1-9

Author(s):

Tiantian Wang ◽

Huiqiang Wu ◽

Menghu Sun ◽

Tingting Liu ◽

Feimeng An ◽

...

Keyword(s):

Femoral Head ◽

Protective Factor ◽

Genetic Model ◽

Additive Model ◽

Northern China ◽

Dominant Model ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Aseptic Necrosis ◽

Increased Risk

Background: Steroid-induced osteonecrosis of the femoral head (ONFH) is aseptic necrosis of the femoral head caused by glucocorticoid use. Once necrotic femoral head necrosis occurs, it irreversibly affects the quality of life seriously. Studies have shown that the susceptibility to steroid-induced ONFH is likely to be related to the variation of miRNA-coding genes. Therefore, this study aimed was to investigate the effect of MIR3142HG on steroid-induced ONFH. Methods: Agena MassARRAY was used to genotype MIR3142HG gene rs1582417, rs2431689, rs7727155, and rs17057846 in 199 patients and 725 healthy people. A genetic model and haplotype analysis were used to evaluate the relationship between the MIR3142HG polymorphism and the risk of steroid-induced ONFH. The odds ratio and 95% confidence intervals were obtained through logistic regression to assess the influence of gene polymorphisms on the occurrence of steroid-induced ONFH. Results: The consequences show that rs7727115 is a protective factor, it could reduce the risk of steroid-induced ONFH, and rs1582417 could increase the risk of steroid-induced ONFH. In the genetic model, rs1582417 was associated with increased risk of alcohol-induced ONFH in dominant model and log-additive model. rs7727115 showed a decreased risk in codominant model, dominant model, and log-additive model. In addition, rs2431689 is related to HDL-C (p = 0.012) and ApoA1 (p = 0.010) levels, and rs17057846 (p = 0.024) is related to ApoB levels. Thelinkage analysis indicated 3 single-nucleotide polymorphisms (rs2431689, rs7727115, and rs17057846) in MIR3142HG with significant chain imbalance. In addition, haplotype “GGG” of MIR3142HG was found out and is harmful for steroid-induced ONFH. Conclusion: Our results first confirm that the genetic polymorphism of MIR3142HG is associated with steroid-induced ONFH susceptibility in Chinese Han population.

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