scholarly journals DAZ duplications confer the predisposition of Y chromosome haplogroup K* to non-obstructive azoospermia in Han Chinese populations

2013 ◽  
Vol 28 (9) ◽  
pp. 2440-2449 ◽  
Author(s):  
Chuncheng Lu ◽  
Ying Wang ◽  
Feng Zhang ◽  
Feng Lu ◽  
Miaofei Xu ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Han Chinese ◽  
Obstructive Azoospermia ◽  
Chinese Populations

Detection Y Chromosome Microdeletions Among Iraq Population in Infertile Patients with Azoospermia and Severe Oligospermia

2019 ◽  
Vol 9 (02) ◽  
Author(s):  
Samah A Hammood ◽  
Alaauldeen S M AL-Sallami ◽  
Saleh M Al-Khafaji
Keyword(s):  
Y Chromosome ◽  
Karyotype Analysis ◽  
Semen Analysis ◽  
Obstructive Azoospermia ◽  
Severe Oligozoospermia ◽  
Infertile Men ◽  
Y Chromosome Microdeletions ◽  
Detailed Evaluation ◽  
Health Organization ◽  
Infertile Patients

Objective: To detection of microdeletions of Y chromosome and study the frequency of microdeletions in infertile men with non-obstructive azoospermia or severe oligozoospermia(Middle Euphrates center)in Iraq population. Material and methods: 153 males were included in the study, the casesweredivided into groups according to the infertility etiology and semen analysis according to Word health organization, the frequencies and the characteristicsof Y chromosome microdeletions were investigated in groups. Multiplex PCR was applied to detect the microdeletions. Results:Y chromosome microdeletion was detected in 42 (40.7%) of 153 cases ,Microdeletions in azoospermia showed more frequently detected 28 (52.8%), followed by severe oligospermia 14 (28 %),Microdeletions in the AZFc region were the most common 12 (22.64%), followed by AZFb 11(20.75%) and AZFa 5(9.43%) in azoospermia compared to severe oligospermisAZFc 6 (12%) AZFb 4 (8 %) and AZFa 4 (8%). Conclusion: Y chromosome microdeletions were detected quite frequently in certain infertility subgroups. Therefore, detailed evaluation of an infertile man by physical examination, semen analysis, hormonal evaluationsand when required, karyotype analysis may predict the patients for whom Y chromosome microdeletionanalysis is necessary and also prevent cost increases. Recommendation: This study emphasizes that analysis of microdeletions should be carried out for all patients with idiopathic azoospermia and severe oligospermia who are candidates for intracytoplasmic sperm injection

scholarly journals Genetic association of FOXO1A and FOXO3A with longevity trait in Han Chinese populations

2009 ◽  
Vol 18 (24) ◽  
pp. 4897-4904 ◽  
Author(s):  
Yang Li ◽  
Wen-Jing Wang ◽  
Huiqing Cao ◽  
Jiehua Lu ◽  
Chong Wu ◽  
...  
Keyword(s):  
Genetic Association ◽  
Han Chinese ◽  
Chinese Populations

Abstract TP134: Genome Wide Association Studies in Han Chinese Populations Identify Novel Susceptibility Loci for Specific Ischemic Stroke Subtypes

Stroke ◽  
2016 ◽  
Vol 47 (suppl_1) ◽  
Author(s):  
Tai-Ming Ko ◽  
Tsong-Hai Lee Lee ◽  
Chien-Hsiun Chen ◽  
Yuan-Tsong Chen ◽  
Jer-Yuarn Wu
Keyword(s):  
Ischemic Stroke ◽  
Chinese Population ◽  
Genetic Factors ◽  
Han Chinese ◽  
Genome Wide Association ◽  
Papillary Thyroid ◽  
Susceptibility Loci ◽  
Han Chinese Population ◽  
Chinese Populations ◽  
Genome Wide

Introduction: Although family history studies in ischemic stroke support that genetic factors may be involved in the pathogenesis of two major subtypes of ischemia stroke: large-artery atherosclerosis (LAA) and small-vessel occlusion (SVO), it is still unclear which particular genetic factors contribute to LAA or SVO. Hypothesis: Because the etiology of ischemic stroke is heterogeneous, we hypothesize that genetic factors may vary by etiologic subtypes or ethnicities. Thus, we aim to identify genetic factors that contribute to LAA or SVO based on two independent Han Chinese populations. Methods: Novel genetic variants that predispose individuals to LAA and SVO were identified by genome-wide association study comprising of 824 individuals (including 444 LAA cases and 380 SVO cases) and 1,727 controls in a Han Chinese population residing in Taiwan. The LAA study was replicated in an independent Han Chinese population comprising of an additional 319 LAA cases and 1,802 controls. Results: In LAA cases, from two independent populations, we identified five single-nucleotide polymorphisms (SNPs), including SNP-1 (P = 3.10 х 10–8), SNP-2 (P = 4.00 х 10–9), SNP-3 (P = 3.57 х 10–8), SNP-4 (P = 1.76 х 10–8), and SNP-5 (P = 2.92 х 10–8), at one novel locus on chromosome 14q13.3 within PTCSC3 (encoding papillary thyroid carcinoma susceptibility candidate 3). In SVO cases, from the discovery stage, we identified two novel candidate susceptibility loci on chromosome 3p25.3 (SNP-6, P = 3.24 х 10–5) and chromosome 14 q31.1 (SNP-7, P = 2.58 х 10–4). Conclusions: For LAA, the newly identified SNPs within PTCSC3 gene were found to have genome-wide statistical significance (P < 5 х 10–8) and were shown to be located in a risk locus correlated with papillary thyroid carcinoma. Moreover, the genetic association between PTCSC3 gene and SVO was not identified, which suggested that PTCSC3 is a specific susceptibility locus for LAA. For SVO, we identified two novel candidate genetic loci which were valuable for replication by an independent population with SVO. In conclusion, our findings provide insights into the genetic basis of LAA and SVO, which may be applicable in the study of the pathogenesis of ischemic stroke and in the development of alternative therapeutic interventions.

scholarly journals Partial Deletions of Y-Chromosome in Infertile Men with Non-obstructive Azoospermia and Oligoasthenoteratozoospermia in a Turkish Population

In Vivo ◽  
2017 ◽  
Vol 31 (3) ◽  
pp. 363-371 ◽  
Author(s):  
CEMALLETTIN CENGIZ BEYAZ ◽  
SEZGIN GUNES ◽  
KADIR ONEM ◽  
TUBA KULAC ◽  
RAMAZAN ASCI
Keyword(s):  
Y Chromosome ◽  
Turkish Population ◽  
Obstructive Azoospermia ◽  
Infertile Men

PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis

2013 ◽  
Vol 34 (7) ◽  
pp. 1922.e1-1922.e5 ◽  
Author(s):  
YongPing Chen ◽  
Zhen-Zhen zheng ◽  
Rui Huang ◽  
Ke Chen ◽  
Wei Song ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Han Chinese ◽  
Chinese Populations ◽  
Lateral Sclerosis
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