Relationship between the methylenetetrahydrofolate reductase (MTHFR) rs1801133 SNP and serum homocysteine levels of Zhuang hypertensive patients in the central region of Guangxi.

Background: The relationship between the methylenetetrahydrofolate reductase (MTHFR) single nucleotide polymorphism (SNP) and serum homocysteine (Hcy) levels or H-type hypertension in different populations is inconsistent. This study aimed to explore the association between the MTHFR rs1801133 SNP and serum Hcy levels of Zhuang hypertensive patients in the central region of Guangxi.

Methods: A total of 606 Zhuang inpatients with essential hypertension were recruited in our hospital from August 2016 to December 2018.

SLC26A4 Mutation Promotes Cell Apoptosis by Inducing Pendrin Transfer, Reducing Cl Transport, and Inhibiting PI3K/Akt/mTOR Pathway.

Objective: Pendrin is encoded by SLC26A4, which is expressed in the apical membrane of inner ear epithelial cells and drives chloride reabsorption in the apical septum. In the inner ear, pendrin dysfunction and hypofunctional mutations lead to vestibular aqueduct (EVA) enlargement and sensory neural hearing loss. Mutations in SLC26A4 are a common reason of deafness.

[β-Thalassemia among Newborns in Wuhan Region and Its Influence Factors].

Objective: To investigate the screening of β-thalassemia among newborns in Wuhan region, so as to explore the influencing factors of Hb A in dried blood spot.

Methods: Concentrations of Hb A,Hb A2,Hb F in the dried blood spots collected from 99 275 neonates in Wuhan region were analyzed by Sebia capillary electrophoresis. The screening result of β-thalassemia was interpretated accroding to the ratio of each group, the suspicious β-thalassemia newborns were recalled and the gene of thalassemia in those newborns was checked.

Effect of Gestational Weight Gain on Associations Between Maternal Thyroid Hormones and Birth Outcomes.

The aim was to investigate the associations between maternal thyroid parameters within the normal ranges during early pregnancy and birth outcomes, and further to examine whether the associations were modified by gestational weight gain (GWG). Maternal serum thyroid-stimulating hormone (TSH), free thyroxine (FT4), and free triiodothyronine (FT3) concentrations within the normal ranges during early pregnancy were measured from 8,107 pregnant women in Wuhan, China. The associations between maternal thyroid parameters and birth outcomes (birth weight, birth length, and low birth weight) were analyzed using multivariable adjusted regression models, and effect modification by pre-pregnancy body mass index (BMI) category and GWG were further evaluated.

The CXCL12 SNPs and their haplotypes are associated with serum lipid traits.

The relationship among the single nucleotide polymorphisms (SNPs) of the C-X-C motif chemokine ligand 12 gene (CXCL12) and the serum lipid profiles in the Chinese population has rarely been described, especially in somewhat old-fashioned and isolated Maonan minority. The goal of the current study was to elucidate the connection among the CXCL12 rs501120 and rs1746048 SNPs, haplotypes, several environmental factors and serum lipid traits in the Maonan as well as Han populations. Genotyping of the two SNPs, gel electrophoresis and direct sequencing were accomplished in 1,494 distinct subjects (Maonan, 750 and Han, 744) using polymerase chain reaction and restriction fragment length polymorphism.

A novel lncRNA-miRNA-mRNA triple network identifies lncRNA as an important regulator of miRNA and gene expression in coronary artery disease.

Background: Long non-coding RNAs (lncRNAs) are involved in numerous physiological functions. Yet, their mechanisms in coronary artery disease (CAD) are not well understood.

Methods: The expression profile of genes associated to CAD was reannotated into the lncRNA-mRNA biphasic profile.

Integrated DNA methylation and gene expression analysis in the pathogenesis of coronary artery disease.

To evaluate DNA methylation sites and gene expression associated with coronary artery disease (CAD) and the possible pathological mechanism involved, we performed (1) genome-wide DNA methylation and mRNA expression profiling in peripheral blood datasets from the Gene Expression Omnibus repository of CAD samples and controls; (2) functional enrichment analysis and differential methylation gene regulatory network construction; (3) validation tests of 11 differential methylation positions of interest and the corresponding gene expression; and (4) correlation analysis for DNA methylation and mRNA expression data. A total of 669 differentially expressed mRNAs were matched to differentially methylated genes. After disease ontology, Kyoto Encyclopedia of Genes and Genomes pathway, gene ontology, protein-protein interaction and network construction and module analyses, 11 differentially methylated positions (DMPs) corresponding to 11 unique genes were observed: - cg26949694, - cg24381155, - cg02223351, - cg11267527, - cg27637738, - cg13104385, - cg20545410, - cg25613180, - cg00559992, - cg27178677 and - cg09247619.

[Prevalence and Genetic Analysis of β-Thalassemia in Neonates in Wuhan Area of China].

Objective: To investigate the β-thalassemia genotypes in neonates in Wuhan area of China and their characteristics of molecular epidemiology.

Methods: A total of 2721 neonates in Wuhan who were positive in primary screening for β-thalassemia were included in this study. Genotypes of β-thalassemia gene were determined with PCR-flow cytometry and fluorescence hybridization assay.

An Ultrasensitive Colorimetric Strategy for Detection of Cadmium Based on the Peroxidase-like Activity of G-Quadruplex-Cd(II) Specific Aptamer.

We rationally designed an ultrasensitive and label-free sensing platform for determination of cadmium (Cd). The sensing platform contains G-quadruplex-Cd(II) specific aptamer (GCDSA) constructed by incorporating G-rich sequence at the end of 5' and the critical domain of the Cd-4 aptamer. GCDSA designed act as both a special recognition sequence for Cd and a signal DNAzyme.

Puerarin alleviates delayed-type hypersensitivity via cytokine inhibition by modulating Th1/Th2 balance.

Puerarin has long been used as a traditional Chinese medicine, which possesses various physiological properties, including anti-inflammation, anti-oxidative, anti-diabetic and anti-cancer activities. The aim of the current study was to investigate the effect of puerarin on delayed-type hypersensitivity (DTH) induced by ovalbumin (OVA) in mice and explore its underlying mechanisms. The results showed that puerarin significantly attenuated DTH, resulting from a decrement in footpad swelling, reduction in inflammatory cell as well as a decline in anti-OVA IgG in serum.

Thyroid function, phthalate exposure and semen quality: Exploring associations and mediation effects in reproductive-aged men.

Background: A normal thyroid physiology is crucial for the maintenance of male reproductive health. Changes in thyroid hormones may represent an intermediate biological mechanism linking phthalate exposure and potential adverse health effects on male reproduction.

Objective: To investigate the mediating role of thyroid function on the association between phthalate exposure and semen quality.

[Prevalence and Genotype Analysis of Newborn α-Thalassemia in Wuhan Area of China].

Objective: To investigate the genotypes of newborn α-thalassemia and to analyze its characteristics of molecular epidemiology in Wuhan area.

Methods: The newborn α-thalassemia gene in 1376 cases with positive confirmed in the primary screening in Wuhan area was detected by PCR, flow cytometry and FISH.

Results: The α-thalassemia in 436 newborns and α- β-composite thalassemia in 10 newborns were confirmed by detection in Wuhan area.

Prevalence of hypertension and associated risk factors in Chinese Jing compared with Mulao populations.

Objective: *These authors contributed equally to this work. At present, they work at the Hezhou People's Hospital, Hezhou, China.To retrospectively compare differences in the prevalence of hypertension and associated risk factors between the Chinese Jing and Mulao populations.

[SRY gene-testing in the diagnosis of disorders of sex development among children].

Objective: To investigate the value of direct sequencing of sex-determining region Y (SRY) gene, as well as peripheral blood karyotype analysis, in the diagnosis of disorders of sex development (DSD) among children and adolescents with ambiguous genitalia.

Methods: The karyotypes of 20 children and adolescents with ambiguous genitalia were determined by conventional G-banding analysis. PCR amplification was used to detect SRY gene in these patients, and direct sequencing was used to judge whether there was SRY gene mutation.

Proprotein convertase subtilisin/kexin type 9 gene E670G polymorphism interacts with alcohol consumption to modulate serum lipid levels.

Background: Both alcohol consumption and the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene polymorphism modulate serum lipid levels, but their interactions on serum lipid profiles are still unknown. The present study was undertaken to detect the interactions of PCSK9 E670G polymorphism and alcohol consumption on serum lipid levels.

Methods: Genotypes of the PCSK9 E670G in 1352 unrelated subjects (785 non-drinkers and 567 drinkers) were determined by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.

The SCARB1 rs5888 SNP and serum lipid levels in the Guangxi Mulao and Han populations.

Background: The associations of scavenger receptor class B type 1 (SCARB1) rs5888 single nucleotide polymorphism (SNP) and serum lipid levels are inconsistant among diverse ethnic populations. The present study was undertaken to detect the association of rs5888 SNP and serum lipid levels in the Guangxi Mulao and Han populations.

Methods: Genotypes of the SCARB1 rs5888 SNP in 801 subjects of Mulao and 807 subjects of Han Chinese were determined by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.

Association of rs2072183 SNP and serum lipid levels in the Mulao and Han populations.

Background: Niemann-pick C1-like 1 (NPC1L1) is a key protein for intestinal cholesterol transportation. Common single nucleotide polymorphisms (SNPs) in the NPC1L1 gene have been associated with cholesterol absorption and serum lipid levels. The present study was undertaken to explore the possible association of NPC1L1 rs2072183 1735 C > G SNP and several environmental factors with serum lipid levels in the Mulao and Han populations.

Association of rs5888 SNP in the scavenger receptor class B type 1 gene and serum lipid levels.

Background: Bai Ku Yao is a special subgroup of the Yao minority in China. The present study was undertaken to detect the association of rs5888 single nucleotide polymorphism (SNP) in the scavenger receptor class B type 1 (SCARB1) gene and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.

Methods: A total of 598 subjects of Bai Ku Yao and 585 subjects of Han Chinese were randomly selected from our stratified randomized cluster samples.

Association of the GALNT2 gene polymorphisms and several environmental factors with serum lipid levels in the Mulao and Han populations.

Background: The association of UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 2 gene (GALNT2) single nucleotide polymorphisms (SNPs) and serum lipid profiles in the general population is not well known. The present study was undertaken to detect the association of GALNT2 polymorphisms and several environmental factors with serum lipid levels in the Guangxi Mulao and Han populations.

Method: A total of 775 subjects of Mulao nationality and 699 participants of Han nationality were randomly selected from our stratified randomized cluster samples.

Interactions of the LIPG 584C>T polymorphism and alcohol consumption on serum lipid levels.

Both endothelial lipase gene (LIPG) 584C>T (rs2000813) polymorphism and alcohol consumption modulate serum lipid levels. But their interactions on serum lipid profiles are not well known. The present study was undertaken to detect the interactions of LIPG 584C>T polymorphism and alcohol consumption on serum lipid levels.

Low density lipoprotein receptor gene Ava II polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.

Background: Several common genetic polymorphisms in the low density lipoprotein receptor (LDL-R) gene have associated with modifications of serum total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) levels, but the results are not consistent in different populations. Bai Ku Yao is a special subgroup of the Yao minority in China. The present study was undertaken to detect the association of LDL-R gene Ava Ⅱ polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.

Genetic variant of V825I in the ATP-binding cassette transporter A1 gene and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.

Background: Several genetic variants in the ATP-binding cassette transporter A1 (ABCA1) gene have associated with modifications of serum high-density lipoprotein cholesterol (HDL-C) levels and the susceptibility for coronary heart disease, but the findings are still controversial in diverse racial/ethnic groups. Bai Ku Yao is an isolated subgroup of the Yao minority in southern China. The present study was undertaken to detect the possible association of V825I (rs2066715) polymorphism in the ABCA1 gene and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.

The proprotein convertase subtilisin/kexin type 9 gene E670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.

Background: Proprotein convertase subtilisin-like kexin type 9 (PCSK9) plays a key role in regulating plasma low-density lipoprotein cholesterol (LDL-C) levels. However, the association of E670G (rs505151) polymorphism in the PCSK9 gene and serum lipid levels is inconsistent in several previous studies. The present study was undertaken to detect the association of PCSK9 E670G polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.

Peroxisome proliferator-activated receptor delta +294T > C polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.

Background: The association of peroxisome proliferator-activated receptor delta (PPARD) +294T > C polymorphism and serum lipid levels is inconsistent in several previous studies. Bai Ku Yao is an isolated subgroup of the Yao minority in China. The present study was undertaken to detect the association of PPARD +294T > C (rs2016520) polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.