number of access : ?
number of downloads : ?
ID 113935
Author
Hasegawa, Chise Tokushima University
Nozawa, Shiari St. Marianna University School of Medicine
Yoshiike, Miki St. Marianna University School of Medicine
Koh, Eitetsue Kanazawa University
Kanaya, Jiro Kanazawa University
Namiki, Mikio Kanazawa University|Hasegawa Hospital
Matsumiya, Kiyomi Suita Tokushukai Hospital
Tsujimura, Akira Juntendo University
Komatsu, Kiyoshi Harasanshinkai Hospital
Itoh, Naoki NTT East Sapporo Hospital
Eguchi, Jiro Sasebo Kyosai Hospital
Iwamoto, Teruaki St. Marianna University School of Medicine|International University of Health and Welfare Hospital
Keywords
Single nucleotide polymorphism
Male infertility
Azoospermia
Oligozoospermia
Tumor suppressor candidate 1
Double plant homeodomain fingers
Family 3
Content Type
Journal Article
Description
Purpose
Recently, a genome-wide association studies of a Hutterite population in the USA revealed that five single nucleotide polymorphisms (SNPs) with a significant association with sperm quality and/or function in ethnically diverse men from Chicago were significantly correlated with family size. Of these, three SNPs (rs7867029, rs7174015, and rs12870438) were found to be significantly associated with the risk of azoospermia and/or oligozoospermia in a Japanese population. In this study, we investigated whether the rs10966811 (located in an intergenic region between the TUSC1 and IZUMO3 genes) and rs10129954 (located in the DPF3 gene) SNPs, previously related to family size, are associated with male infertility. In addition, we performed association analysis between rs12348 in TUSC1 and rs2772579 in IZUMO3 and male infertility.
Methods
We genotyped 145 patients with infertility (including 83 patients with azoospermia, and 62 with oligozoospermia) and 713 fertile controls by PCR-RFLP technique for polymorphism. Because rs10966811 has no restriction sites, the SNP rs12376894 with strong linkage disequilibrium was selected as an alternative to rs10966811.
Results
There was a statistically significant association between rs12376894 proxy SNP of rs10966811, and oligozoospermia. A statistically significant association between rs10129954 and azoospermia, and oligozoospermia were observed. When we assessed the relationship between rs12348 in TUSC1 and rs2772579 in IZUMO3 and male infertility traits, we found that rs12348 in TUSC1 was significantly associated with azoospermia and oligozoospermia, but rs2772579 in IZUMO3 was not associated with male infertility.
Conclusion
We found that the polymorphisms in TUSC1 and DPF3 displayed strong associations with male infertility.
Journal Title
Journal of Assisted Reproduction and Genetics
ISSN
10580468
15737330
NCID
AA10830983
Publisher
Springer US
Volume
35
Issue
2
Start Page
257
End Page
263
Published Date
2017-10-03
Remark
This is a post-peer-review, pre-copyedit version of an article published in Journal of Assisted Reproduction and Genetics. The final authenticated version is available online at: https://doi.org/10.1007/s10815-017-1052-x.
EDB ID
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Author
departments
Pharmaceutical Sciences
Medical Sciences