【摘 要】
：
A previous genomewide association study of non-obstructive azoospermia (NOA) in the Han Chinese population identified three risk loci (rs12097821,rs2477686, and rs10842262) and provided strong evidenc
【机 构】
：
Shanghai Human Sperm Bank Research Laboratory, Shanghai 200001,China
【出 处】
：
GTAUF2014 & APSMHA2014第六届长城泌尿男科转化医学论坛暨第七届亚太男性健康与抗衰老研究学会年会
论文部分内容阅读
A previous genomewide association study of non-obstructive azoospermia (NOA) in the Han Chinese population identified three risk loci (rs12097821,rs2477686, and rs10842262) and provided strong evidence for a genetic influence in male infertility.However, recently,a follow-up study of these single nucleotide polymorphism (SNP) loci in the Japanese population showed that none of them were significantly associated with NOA.Therefore,we conducted an association study, consisting of 550 NOA cases and 555 normal controls, to further validate whether the risk of those three SNPs still existed in an independent Han Chinese male population.The association studies did not support the association of rs12097821 and rs2477686 with NOA for both genotype and allele distributions, but rs10842262 in the SOX5 gene was significantly associated with NOA (chi square =9.31;P=0.0095 and chi square =9.27;P=0.0023, respectively).Our study provides genetic evidence for SOX5 polymorphism in NOA, contributing to predicting males at high risk of NOA in Han Chinese population.Considering genetic differences among populations, future validating studies in independent samples are suggested.
其他文献
目的:观察埃克替尼用于治疗晚期肺腺癌患者的疗效及安全性,分析影响其疗效的相关因素方法:回顾性分析在江苏省肿瘤医院慈善赠药点接受埃克替尼治疗90例晚期肺腺癌患者的临床资料.结果:可评价疗效的90例患者中CR 0例,PR 55例(61.1％),SD 28例(31.1％),PD 7例(2.2％),ORR为61.1％,DCR为92.2％.90例患者中位PFS为10.5(1.3 ～ 22.3)个月.已知EG
Purpose:The predictive and prognostic role of neuron-specificenolase (NSE) in non--small cell lung cancer (NSCLC)is still under debate.The present meta-analysis aimed to evaluate the relation between
目的:MiR-137是我们前期采用微流体芯片技术检测肺癌细胞miRNA表达谱时发现的一条与侵袭转移可能相关的miRNA,因此本研究旨在阐明miR-137影响肺癌细胞侵袭转移能力的分子机制.方法:应用生物信息学分析方法筛选miR-137的靶蛋白,应用荧光素酶报告基因系统检测进行验证,采用基因过表达技术及miRNA inhibitor技术,深入分析miR-137影响肺癌细胞转移侵袭能力的分子机制,应用
目的:观察全身化疗联合胸腔注射铜绿假单胞菌治疗肺癌恶性假单胞菌治疗肺癌恶性胸腔积液的疗效及副反应.方法:在应用GP\DP\AP标准方案全身化疗的同时,予以胸腔闭式引流术,应用静脉留置导管胸腔置管,连续每日引流胸腔积液至胸腔积液引流尽,然后胸腔内注入生理盐水20毫升+铜绿假单胞菌注射液4支,并同时胸腔内注入利多卡因0.1克以预防可能造成的局部胸膜反应.为防止由于注射所致的过敏反应,胸腔注药前半小时或
Objective: Generation of functional spermatids from azoospermia patients is of unusual significance for treating male infertility.Here we report an efficient approach to obtain human functional sperma
Objective: We have screened and cloned a novel human testis-specific gene, named Testis developmental related gene 1 (TDRG1 GenBank DQ168992), using Digital Differential Display.In our previous work,
Background: Partial trisomy 16q is a rare syndrome with a wide range of manifestations.We here reported a boy patient with an inherited balanced complex chromosome rearrangement (CCR) involving chromo
Introduction: It has been shown that the major causes of erectile dysfunction (ED) associated with aging were via a diffuse and progressive corporal fibrosis to cavernous smooth muscle cells (CSMCs) i
Background: The pH of semen is one of the important elements for maintaining spermatic normal functions.Variation of semen pH could lead to male infertility, but the mechanism of which is still unknow
Objective: To establish a high resolution melting analysis with unlabeled probes for genotyping CCL2-2 518 T ＞ C.Methods: Two unlabeled probes were designed.One is complementary to wild type and anoth