Single-nucleotide polymorphisms in theLRWD1gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome

Andrologia ◽  
2013 ◽  
Vol 46 (3) ◽  
pp. 273-276 ◽  
Author(s):  
T. Miyamoto ◽  
E. Koh ◽  
A. Tsujimura ◽  
Y. Miyagawa ◽  
Y. Saijo ◽  
...  
Keyword(s):  
Risk Factor ◽  
Single Nucleotide Polymorphisms ◽  
Sertoli Cell ◽  
Genetic Risk ◽  
Japanese Patients ◽  
Genetic Risk Factor ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest

2009 ◽  
Vol 11 (5) ◽  
pp. 623-628 ◽  
Author(s):  
Toshinobu Miyamoto ◽  
Akira Tsujimura ◽  
Yasushi Miyagawa ◽  
Eitetsu Koh ◽  
Naoko Sakugawa ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Risk Factor ◽  
Genetic Risk ◽  
Japanese Patients ◽  
Genetic Risk Factor ◽  
Nucleotide Polymorphism ◽  
Meiotic Arrest ◽  
Single Nucleotide

scholarly journals Single-nucleotide polymorphisms in HORMAD1 may be a risk factor for azoospermia caused by meiotic arrest in Japanese patients

2012 ◽  
Vol 14 (4) ◽  
pp. 580-583 ◽  
Author(s):  
Toshinobu Miyamoto ◽  
Akira Tsujimura ◽  
Yasushi Miyagawa ◽  
Eitetsu Koh ◽  
Mikio Namiki ◽  
...  
Keyword(s):  
Risk Factor ◽  
Single Nucleotide Polymorphisms ◽  
Japanese Patients ◽  
Nucleotide Polymorphisms ◽  
Meiotic Arrest ◽  
Single Nucleotide

Causal associations of obesity with chronic kidney disease and arterial stiffness: a Mendelian randomization study

2021 ◽  
Author(s):  
Chaojie Ye ◽  
Lijie Kong ◽  
Zhiyun Zhao ◽  
Mian Li ◽  
Shuangyuan Wang ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Standard Deviation ◽  
Kidney Disease ◽  
Single Nucleotide Polymorphisms ◽  
Arterial Stiffness ◽  
Genetic Risk ◽  
Mendelian Randomization ◽  
Genetic Risk Score ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Abstract Purpose Observational studies have associated obesity with chronic kidney disease (CKD) and arterial stiffness, but the causality remains unclear. We aimed to investigate the causality of obesity with CKD and arterial stiffness using Mendelian randomization (MR) analysis. Methods We genotyped 14 body mass index (BMI)-associated variants validated in East Asians in 11384 Chinese adults. A genetic risk score based on the 14 variants and the 14 individual single nucleotide polymorphisms were respectively used as instrumental variables (IVs). CKD was defined as estimated glomerular filtration rate <60 mL/min/1.73 m 2. Arterial stiffness was defined as brachial-ankle pulse wave velocity >1550 cm/s. Results Using the genetic risk score as the IV, we demonstrated causal relations of each 1-standard deviation increment in BMI with CKD (odds ratio [OR]: 2.36; 95% confidence interval [CI]: 1.11-5.00) and arterial stiffness (OR: 1.71; 95% CI: 1.22-2.39). Using the 14 single nucleotide polymorphisms individually as IVs, each 1-standard deviation increment in BMI casually associated with CKD (OR: 2.58; 95% CI: 1.39-4.79) and arterial stiffness (OR: 1.87; 95% CI: 1.24-2.81) in the inverse-variance weighted analysis, and MR-Egger regression revealed no evidence of horizontal pleiotropy (Both P for intercept≥0.34). The causality between obesity and CKD was validated in two-sample MR analysis among Europeans (681275 of Genetic Investigation of ANthropometric Traits and 133413 of CKD Genetics). Conclusions This study provided novel insights into causality of obesity with CKD and arterial stiffness, highlighting the importance of weight management for primary prevention and control of subclinical vascular diseases.

Protein S–K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients

Blood ◽  
2006 ◽  
Vol 107 (4) ◽  
pp. 1737-1738 ◽  
Author(s):  
Rina Kimura ◽  
Shigenori Honda ◽  
Tomio Kawasaki ◽  
Hajime Tsuji ◽  
Seiji Madoiwa ◽  
...  
Keyword(s):  
Risk Factor ◽  
Deep Vein Thrombosis ◽  
Genetic Risk ◽  
Protein S ◽  
Japanese Patients ◽  
Genetic Risk Factor ◽  
Vein Thrombosis ◽  
Deep Vein
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