DataSheet_1_Kidney function and cardiovascular diseases: a large-scale observational and Mendelian randomization study.docx

BackgroundPrior observational studies have found an association between kidney function and cardiovascular diseases (CVDs). However, these studies did not investigate causality. Therefore, the aim of this study is to examine the causal relationship between kidney function and CVDs.MethodsWe utilized data from the eICU Collaborative Research Database (eICU-CRD) from the years 2014-2015 to evaluate the observational association between renal failure (RF) and CVDs. To investigate the causal effects of kidney function (estimated glomerular filtration rate [eGFR] and chronic kidney disease [CKD]) and CVDs (including atrial fibrillation [AF], coronary artery disease [CAD], heart failure [HF], any stroke [AS], and any ischemic stroke [AIS]), we conducted a two-sample bidirectional Mendelian randomization (MR) analysis.ResultsIn the observational analysis, a total of 157,883 patients were included. After adjusting for potential confounding factors, there was no significant association between baseline RF and an increased risk of developing CVDs during hospitalization [adjusted odds ratio (OR): 1.056, 95% confidence interval (CI): 0.993 to 1.123, P = 0.083]. Conversely, baseline CVDs was significantly associated with an increased risk of developing RF during hospitalization (adjusted OR: 1.189, 95% CI: 1.139 to 1.240, P ConclusionOur study provides evidence for causal effects of CVDs on kidney function. However, the evidence to support the causal effects of kidney function on CVDs is currently insufficient. Further mechanistic studies are required to determine the causality.</p

The complete mitogenome of <i>Paratanakia chii</i> (Cypriniformes; Cyprinidae)

Paratanakia chii is a bitterling fish of the genus Paratanakia, subfamily Acheilognathinae and family Cyprinidae. The mitochondrial DNA sequence of P. chii is reported in this paper. The complete mitochondrial genome of P. chii is 16,575 bp in length, including 13 protein-coding genes (PCGs), 2 rRNA genes, 22 tRNA genes, and 1 displacement loop (D-loop). The genome sequence is consistent with those of most other carp. The majority of PCGs have AT- (Met) start codons and TA- end codons. The A + T contents of the genome, PCGs, transfer RNAs (tRNAs), and ribosomal RNAs (rRNAs) are 56.92%, 58.07%, 56.34%, and 54.21%, respectively. Phylogenetic analysis showed that P. chii is most closely related to Tanankia himantegus. These data will benefit relative ecological and phylogenetic studies.</p

Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China

<div><p>Objective</p><p>The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China.</p><p>Methods</p><p>We developed a microarray to detect 240 mutations underlying syndromic and nonsyndromic sensorineural hearing loss. The microarray was then used for analysis of 382 patients with nonsyndromic sensorineural hearing loss (including 15 patients with enlarged vestibular aqueduct syndrome), 21 patients with Waardenburg syndrome, and 60 unrelated controls. Subsequently, we analyzed the sensitivity, specificity, and reproducibility of this new approach after Sanger sequencing-based verification, and also determined the contribution of the genes on this array to the development of distinct hearing disorders.</p><p>Results</p><p>The sensitivity and specificity of the microarray chip were 98.73% and 98.34%, respectively. Genetic defects were identified in 61.26% of the patients with nonsyndromic sensorineural hearing loss, and 9 causative genes were identified. The molecular etiology was confirmed in 19.05% and 46.67% of the patients with Waardenburg syndrome and enlarged vestibular aqueduct syndrome, respectively.</p><p>Conclusion</p><p>Our new mutation-based microarray comprises an accurate and comprehensive genetic tool for the detection of sensorineural hearing loss. This microarray-based detection method could serve as a first-pass screening (before next-generation-sequencing screening) for deafness-causing mutations in China.</p></div

Summary of mutant alleles identified in patients with nonsyndromic sensorineural hearing loss (SNHL).

<p>Summary of mutant alleles identified in patients with nonsyndromic sensorineural hearing loss (SNHL).</p

Genotypes of patients harboring mutations in multiple autosomal-recessive inherited genes.

<p>Genotypes of patients harboring mutations in multiple autosomal-recessive inherited genes.</p

Distribution of the detection sites on the microarray.

<p>Distribution of the detection sites on the microarray.</p

Comparison of several methods for the genetic detection of hearing loss.

<p>Comparison of several methods for the genetic detection of hearing loss.</p

Genotypes of patients harboring mutations in autosomal-dominant inherited genes.

<p>Genotypes of patients harboring mutations in autosomal-dominant inherited genes.</p

Genotypes of patients harboring mutations in single autosomal-recessive inherited gene.

<p>Genotypes of patients harboring mutations in single autosomal-recessive inherited gene.</p

Clinical features and genotypes of Waardenburg syndrome (WS) patients carrying identified mutations.

<p>Clinical features and genotypes of Waardenburg syndrome (WS) patients carrying identified mutations.</p