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Single‐nucleotide polymorphisms in the LRWD 1 gene may be a genetic risk factor for J apanese patients with S ertoli cell‐only syndrome
Author(s) -
Miyamoto T.,
Koh E.,
Tsujimura A.,
Miyagawa Y.,
Saijo Y.,
Namiki M.,
Sengoku K.
Publication year - 2014
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/and.12077
Subject(s) - azoospermia , biology , male infertility , single nucleotide polymorphism , genetics , gene , chromatin , genotype , microarray analysis techniques , infertility , andrology , gene expression , medicine , pregnancy
Summary Genetic mechanisms have been implicated as a cause of some cases of male infertility. Recently, ten novel genes involved in human spermatogenesis, including human LRWD 1 , have been identified by expression microarray analysis of human testictissue. The human LRWD 1 protein mediates the origin recognition complex in chromatin, which is critical for the initiation of pre‐replication complex assembly in G 1 and chromatin organization in post‐ G 1 cells. The Lrwd1 gene expression is specific to the testis in mice. Therefore, we hypothesized that mutation or polymorphisms of LRWD 1 participate in male infertility, especially azoospermia. To investigate whether LRWD 1 gene defects are associated with azoospermia caused by SCOS and meiotic arrest ( MA ), mutational analysis was performed in 100 and 30 Japanese patients by direct sequencing of the coding regions, respectively. Statistical analysis was performed for patients with SCOS and MA and in 100 healthy control men. No mutations were found in LRWD 1 ; however, three coding single‐nucleotide polymorphisms ( SNP 1‐ SNP 3) could be detected in the patients. The genotype and allele frequencies in SNP 1 and SNP 2 were notably higher in the SCOS group than in the control group ( P < 0.05). These results suggest the critical role of LRWD 1 in human spermatogenesis.