MP07-06 STUDY ON SINGLE NUCLEOTIDE POLYMORPHISMS WITHIN THE NOVEL TESTIS-SPECIFIC HASPIN GENE ENCODING A SERINE/THREONINE PROTEIN KINASE IN HUMAN MALE INFERTILITY

2017 ◽  
Vol 197 (4S) ◽  
Author(s):  
Yasushi Miyagawa ◽  
Tetsuji Soda ◽  
Norichika Ueda ◽  
Shinichiro Fukuhara ◽  
Hiroshi Kiuchi ◽  
...  
2015 ◽  
Vol 193 (4S) ◽  
Author(s):  
Yasushi Miyagawa ◽  
Tetsuji Soda ◽  
Kentaro Takezawa ◽  
Shinichiro Fukuhara ◽  
Hiroshi Kiuchi ◽  
...  

2017 ◽  
Vol 2017 ◽  
pp. 1-6
Author(s):  
Sisi Li ◽  
Zhifang Lu ◽  
Mengwei Yao ◽  
Sisi Ning ◽  
Yuan Wu ◽  
...  

The aim of this study was to explore potential relationships of four single-nucleotide polymorphisms (SNPs) in the gene encoding dendritic cell-specific intercellular adhesion molecule 3-grabbing nonintegrin (DC-SIGN) with risk of nasopharyngeal carcinoma (NPC). The DC-SIGN SNPs rs7252229, rs4804803, rs2287886, and rs735240 were genotyped in 477 unrelated NPC patients and 561 cancer-free controls. At rs7252229, risk of NPC was significantly lower in individuals with GC (odds ratio [OR] 0.076, 95% confidence interval [CI] 0.008–0.690), GG (OR 0.056, 95%CI 0.006–0.487), or GC + GG (OR 0.059, 95%CI 0.007–0.515) than in individuals with the CC genotype, after adjusting for age, gender, smoking history, and EBV-VCA-IgA status. At rs4804803, risk of NPC was significantly higher in individuals with the genotype GG than in those with the genotype AA (adjusted OR 9.038, 95%CI 1.708–47.822). At rs735240, risk of NPC did not change significantly with genotypes AG, GG, or AG + GG after adjusting for age, gender, and smoking history. However, when data were also adjusted for EBV-VCA-IgA status, three genotypes emerged as associated with significantly higher risk of NPC than the AA genotype: AG (OR 2.976, 95%CI 1.123–7.888), GG (OR 3.314, 95%CI 1.274–8.622), or GG + AG (OR 3.191, 95%CI 1.237–8.230). Our results suggest that DC-SIGN SNPs rs7252229, rs4804803, and rs735240 may influence NPC risk in the Chinese population. The mechanisms mediating this risk require a further study.


2004 ◽  
Vol 19 (12) ◽  
pp. 2771-2776 ◽  
Author(s):  
Petra Tschanter ◽  
Elena Kostova ◽  
C.Marc Luetjens ◽  
Trevor G. Cooper ◽  
Eberhard Nieschlag ◽  
...  

2018 ◽  
Vol 18 (3) ◽  
pp. 685-698 ◽  
Author(s):  
Reza Talebi ◽  
Ahmad Ahmadi ◽  
Fazlollah Afraz ◽  
Julien Sarry ◽  
Florent Woloszyn ◽  
...  

Abstract The present study aimed to investigate the presence of polymorphisms at four known genes controlling ovine prolificacy i.e. BMP15, GDF9, BMPR1B and B4GALNT2 in a sample of 115 Iranian Mehraban ewes and their association with litter size (LS) and lambs’ birth weight (BW) traits. Using Sanger sequencing of exons and polymorphism specific genotyping, ten SNPs (Single Nucleotide Polymorphisms) were observed in only two genes, GDF9 and BMPR1B. Seven SNPs were found in the GDF9 gene on the chromosome 5. Among them, six were already described in the coding sequence, and a new one (g.41840985C>T) was found in the 3’UTR. In the BMPR1B gene on the chromosome 6, three novel SNPs were detected in the exon 7 (g.29382184G>A; g.29382337G>A and g.29382340G>A). Allelic frequencies were established for six SNPs among the ten identified and they were in Hardy-Weinberg equilibrium. A significant association was found between the novel SNPs found in the exon 7 of BMPR1B and LS. Present results indicate the potential role of the BMPR1B locus in controlling prolificacy of Mehraban sheep and provide genetic markers for further exploitation in selection to improve reproductive efficiency.


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