| Item type |
文献 / Documents(1) |
| 公開日 |
2019-11-26 |
| アクセス権 |
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|
アクセス権 |
open access |
| 資源タイプ |
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|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 出版社版DOI |
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|
関連識別子 |
https://doi.org/10.1007/s10815-017-1052-x |
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|
関連名称 |
10.1007/s10815-017-1052-x |
| 出版タイプ |
|
|
出版タイプ |
AM |
|
出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
| タイトル |
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|
タイトル |
Association of TUSC1 and DPF3 gene polymorphisms with male infertility |
| 著者 |
佐藤, 陽一
ハセガワ, チセ
田嶋, 敦
ノザワ, シアリ
ヨシイケ, ミキ
コウ, エイテツ
カナヤ, ジロウ
ナミキ, ミキオ
マツミヤ, キヨミ
ツジムラ, アキラ
コマツ, キヨシ
イトウ, ナオキ
エグチ, ジロウ
山内, あい子
イワモト, テルアキ
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| 抄録 |
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内容記述 |
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. |
| キーワード |
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|
主題 |
Single nucleotide polymorphism |
| キーワード |
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|
主題 |
Male infertility |
| キーワード |
|
|
主題 |
Azoospermia |
| キーワード |
|
|
主題 |
Oligozoospermia |
| キーワード |
|
|
主題 |
Tumor suppressor candidate 1 |
| キーワード |
|
|
主題 |
Double plant homeodomain fingers |
| キーワード |
|
|
主題 |
Family 3 |
| 書誌情報 |
en : Journal of Assisted Reproduction and Genetics
巻 35,
号 2,
p. 257-263,
発行日 2017-10-03
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| 収録物ID |
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収録物識別子タイプ |
ISSN |
|
収録物識別子 |
10580468 |
| 収録物ID |
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|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
15737330 |
| 収録物ID |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA10830983 |
| 出版者 |
|
|
出版者 |
Springer US |
| 備考 |
|
|
値 |
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. |
| EID |
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|
識別子 |
336836 |
| 言語 |
|
|
言語 |
eng |
jarg_35_2_257.pdf (916 KB)
