The rs13347 Polymorphism of the CD44 Gene Is Associated with the Risk of Kidney Stones Disease in the Chinese Han Population of Northeast Sichuan, China

Objective. To investigate the association between the rs13347 polymorphism of the CD44 gene and the risk of kidney stone disease (KSD) in the Han population of northeast Sichuan, China, so as to provide a theoretical basis for the treatment of KSD. Methods. We used PCR-restriction fragment length polymorphism (RFLP) technique to perform genotyping at rs13347 locus of the CD44 gene in the KSD group and the gontrol group. SNP Hardy-Weinberg equilibrium (HWE) testing was used to confirm the balance of genetic inheritance. Multivariate logistic regression analysis was used for the assessment of rs13347 polymorphism and the risk of developing KSD and to compare the relationship between the polymorphism of rs13347 and clinical characteristics of patients with KSD. Results. Genotypic results of rs13347 locus of the CD44 gene in the two groups were consistent with the SNP-HWE test, indicating the genetic balance. At the same time, multivariate logistic regression analysis indicated that subjects with CT and TT genotypes at rs13347 in the CD44 gene were more likely to have KSD, and there was a higher prevalence rate in males. Furthermore, carrying allele T at rs13347 was also a risk factor for KSD. In addition, people carrying CT and TT genotypes at rs13347 also have a significantly increased risk of relapsing KSD. Conclusion. The rs13347 polymorphism of the CD44 gene may be associated with the risk of KSD in the Han population of northeast Sichuan in China, and the recurrence rate of KSD in the carriers of CT and TT genotypes is higher.

Relationship of circulating total bilirubin, UDP-glucuronosyltransferases 1A1 and the development of non-alcoholic fatty liver disease: a cross-sectional study

Background This study aimed to investigate the correlation of circulating total bilirubin (TB) and UGT1A1 with NAFLD in Chinese Han population. Methods 172 adults were enrolled from the Qingdao Municipal Hospital from May 2019 to October 2020. All individuals were examined with MRI-PDFF and divided into no steatosis, mild steatosis, moderate steatosis, and severe steatosis groups according to the MRI-PDFF values. The biochemical indexes and UGT1A1 were measured. Results There was no significant difference of circulating TB and UGT1A1 levels between NAFLD group and controls. In the moderate steatosis and severe steatosis groups, the circulating TB levels were higher than that in control group (all P < 0.05). In addition, circulating TB levels were weak positively associated with liver fat fraction in NAFLD patients (ρ = 0.205, P = 0.001). There was no significant correlation between circulating UGT1A1 levels with liver fat fraction in patients with NAFLD (ρ = 0.080, P = 0.179), but positively correlation was found in patients with severe steatosis (ρ = 0.305, P = 0.026). Conclusions The circulating TB levels were significant high in patients with moderate and severe steatosis. Circulating TB levels were weakly associated with liver fat fraction in patients with NAFLD, and the circulating UGT1A1 levels were positively correlated with liver fat fraction in NAFLD patients with severe steatosis. Trial registration: ChiCTR, ChiCTR1900022744. Registered 24 April 2019 – Retrospectively registered, http://www.chictr.org.cn/edit.aspx?pid=38304&htm=4.

An intron SNP rs2069837 in IL-6 is associated with osteonecrosis of the femoral head development

Background Genetic polymorphisms play a crucial role in the development of osteonecrosis of the femoral head (ONFH). This study mainly explored the association of IL-6 variants and ONFH susceptibility among the Chinese Han population. Methods Two variants (rs2069837, and rs13306435) in the IL-6 gene were identified and genotyped from 566 patients with ONFH and 566 healthy controls. The associations between IL-6 polymorphisms and ONFH susceptibility were assessed using odds ratio (OR) and 95% confidence interval (95% CI) via logistic regression. The potential function of these two variants was predicted by the HaploReg online database. Results The results of the overall analysis revealed that IL-6 rs2069837 was correlated with decreased risk of ONFH among the Chinese Han population (p < 0.05). In stratified analysis, rs2069837 also reduced the susceptibility to ONFH in older people (> 51 years), males, nonsmokers, and nondrinkers (p < 0.05). However, no associations between rs13306435 and ONFH susceptibility were observed (p > 0.05). Conclusions To sum up, we suggested that rs2069837 G>A polymorphism in the IL-6 gene was significantly associated with a decreased risk of ONFH among the Chinese Hans. These findings underscored the crucial role of IL-6 rs2069837 in the occurrence of ONFH.

Metabolic Syndrome and Its Components Are Associated With Altered Amino Acid Profile in Chinese Han Population

ObjectiveRecent studies have found that the levels of plasma amino acids, such as branched-chain amino acids and aromatic amino acids, were associated with visceral obesity, insulin resistance, future development of diabetes and cardiovascular diseases. However, few studies have involved a Chinese Han population. This study aimed to examine the association between amino acid profile and metabolic syndrome (MetS) and its components in the Chinese Han population.MethodsThis is a cross-sectional study, which enrolled a cohort of 473 participants from a community. We employed the isotope internal standard method to determine the plasma concentrations of 28 amino acids using high-performance liquid chromatography-tandem mass spectrometry (LC/MS). Participants were divided into MetS (n = 72) and non-MetS groups (n = 401) to analyze the association between amino acids and MetS and its components.ResultsThe prevalence of MetS was 15.2% according to the criteria. Plasma concentrations of isoleucine (Ile), leucine (Leu), valine (Val), tyrosine (Tyr), tryptophan (Trp), phenylalanine (Phe), glutamic acid (Glu), aspartic acid (Asp), alanine (Ala), histidine (His), methionine (Met), asparagine (Asn), and proline (Pro) were significantly higher in the MetS group than those in the non-MetS group (P &lt; 0.05), but taurine (Tau) was significantly lower (P &lt; 0.05). When MetS components were increased, the concentrations of these 13 amino acids significantly increased (P &lt; 0.05), but Tau concentration was significantly decreased (P &lt; 0.05). We extracted the amino acid profile by principal component analysis (PCA), PC1 and PC2, which extracted from the 14 amino acids, were significantly associated with MetS (odds ratio, 95% confidence interval: 1.723, 1.325–2.085 and 1.325, 1.043–1.684, respectively). A total of 260 non-MetS participants were followed up effectively, and 42 participants developed new-onset MetS within 5 years. We found that the amino acid profile of PC1 was linked to the occurrence of future MetS. Decreased Tau was correlated with the future development of MetS.ConclusionParticipants with MetS exhibit an abnormal amino acid profile, and its components gradually increase when these amino acids are altered. Amino acid PCA profile can be employed for assessing and monitoring MetS risk. Finally, decreased Tau may be linked to the future development of MetS.

The Interaction Between Genetic Variant ZNF804A rs1344706 and Alcohol Withdrawal on Impulsivity: Evidence for the Diathesis-Stress Model

Objective: Alcohol use disorder (AUD) is the most common substance use disorder, which may relate to increased impulsivity. A more detailed understanding of the potential moderating factor on association between AUD and impulsivity is likely to have far-reaching effects. This study aims to examine whether the interaction between a genetic variant ZNF804A rs1344706 and alcohol use is related to impulsivity in Chinese Han adult males diagnosed with AUD.Methods: A total of 455 Chinese Han adult males diagnosed with AUD were included in this study. Impulsivity was assessed using Barratt Impulsiveness Scale. Alcohol dependence was measured by Michigan Alcoholism Screening Test. Genomic DNA was extracted from peripheral blood of participants and genotyped.Results: Hierarchical multiple regression yielded a significant interaction between ZNF804A rs1344706 and alcohol use (β = 0.20, p = 0.0237). Then, A region of significance (RoS) test was performed to interpret the interaction effect. Re-parameterized regression models revealed that the interaction between ZNF804A rs1344706 and alcohol problem severity fit to the weak diathesis-stress model (R2 = 0.15, p &lt; 0.0010), indicating that the T allele carriers are more susceptible to alcohol problem severity, jointly contributing to impulsivity.Conclusions: This study, which analyzed a specific gene-environment interaction, demonstrated that carriers of the T allele of ZNF804A rs1344706 may be more susceptible to alcohol problem severity, correlated with higher levels of impulsivity during withdrawal.

Percentile Curves for Multiple Physical Fitness Components Among Chinese Han Children and Adolescents Aged 7–18 Years From a National Survey Based on the Total and the Normal Weight Population

Introduction: To develop sex- and age-specific percentile curves for seven physical fitness components for Chinese Han children and adolescents aged 7–18 years based on the total and the normal weight population using a nationally representative sample.Methods: A total of 214,228 Chinese Han children and adolescents aged 7–18 years old with all nutritional status and 161,999 with normal weight were examined. Seven physical fitness components [forced vital capacity (FVC), standing long jump (SLJ), 50-m dash, sit-and-reach (SR), grip strength (GS), body muscle strength (BMS), and endurance running (ER)] were measured, and percentile curves for each physical fitness component at the 20th, 40th, 60th, and 80th percentiles were calculated using the general additive model for location, scale, and shape (GAMLSS).Results: Physical fitness presents different characteristics in each subgroup of sex, age, and nutritional status among children and adolescents. Sex- and age-specific percentiles for the seven physical fitness components among the Chinese Han children and adolescents aged 7–18 years based on the total and the normal weight population were provided as curves. Boys performed better than girls in FVC, SLJ, 50-m dash, GS, and ER but worse in SR. The performances of FVC, SLJ, 50-m dash, GS, BMS, and ER increased with age, but the estimates of SR were at the bottom among boys aged 12 years and girls aged 11 years. The annual increments of all components were larger in boys than girls at the peak time, which was earlier in girls than boys. The gap of physical fitness components between sexes increased with age, especially during puberty (since after 11 years old).Conclusion: The present study described the percentile curves of seven physical fitness components among the Chinese Han children and adolescents based on the total and the normal weight population at the national level, which could help to chart the level of physical fitness across age span and identify the extreme populations with either health concerns or potential talents.

EDNRA Gene rs1878406 Polymorphism is Associated With Susceptibility to Large Artery Atherosclerotic Stroke

Objective: We performed this study to investigate whether the EDNRA gene rs1878406 C &gt; T polymorphism is associated with risk of large artery atherosclerosis (LAA) stroke in the Chinese Han population.Methods: Genotyping of rs1878406 was performed in 1,112 LAA stroke patients and 1,192 healthy controls. Multivariate logistic regression analyses were applied to assess the effect of the rs1878406 C &gt; T polymorphism on susceptibility to LAA stroke.Results: A significant increase of LAA stroke risk was found in the recessive model (TT vs. CC/TC, OR = 1.74, 95% CI = 1.23–2.48, p = 0.002) and co-dominant model (TC vs. CC, OR = 1.06, 95% CI = 0.89–1.27, TT vs. CC, OR = 1.79, 95% CI = 1.25–2.55, p = 0.006). However, the interaction between age and genotypes of rs1878406 was not statistically significant, and no significant interactive effect was observed between the rs1878406 C &gt; T polymorphism and sex (p &gt; 0.05).Conclusion: The rs1878406 C &gt; T polymorphism is associated with increased risk of LAA stroke in the Chinese Han population.