Y chromosome gr/gr subdeletion is associated with lower semen quality in young men from the general Japanese population but not in fertile Japanese Men.
Several case-control studies have investigated whether Y chromosome haplogroups or deletions are associated with spermatogenic failure. However, the relationships between Y chromosome haplogroups or deletions and semen quality in general population have not been elucidated. In this study, we assessed relationships between Y chromosome haplogroups or deletions and semen parameters in 791 fertile Japanese men and 1221 young men from the general Japanese population. We found that the haplogroup D2 (M55 lineage) was significantly associated with lower semen parameters, especially total motile sperm count (P = 0.00051, beta = -0.097), in men from the general population but not in fertile men. In addition, we found that the gr/gr subdeletion was associated with semen quality and in particular, strongly associated with decreased sperm motility (P = 0.00041, beta = -3.14) and total motile sperm count (P = 0.00031, beta = -0.099) in men from the general population but not in fertile men. The combined analysis of fertile Japanese men and men from the general Japanese population showed that the haplogroup D2 (M55 lineage) and the gr/gr subdeletion were strongly associated with reduced sperm motility (P = 0.00056, beta = -2.71, and P = 7.7 × 10(-5), beta = -3.05, respectively) and that haplogroup O2b1 was strongly associated with elevated sperm motility (P = 0.00089, beta = 2.94). These observations add further support for the view that the gr/gr subdeletion diminishes sperm motility that consequently may result in male infertility.
Department of Pharmaceutical Information Science, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan Department of Human Genetics and Public Health, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan youichi.sato@tokushima-u.ac.jp.
Youichi
Y
Sato
Center for Infertility and IVF, International University of Health and Welfare Hospital, Nasushiobara, Tochigi, Japan Department of Urology, St. Marianna University School of Medicine, Kawasaki, Japan.
Teruaki
T
Iwamoto
Department of Human Genetics and Public Health, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan.
Toshikatsu
T
Shinka
Department of Urology, St. Marianna University School of Medicine, Kawasaki, Japan.
Shiari
S
Nozawa
Department of Urology, St. Marianna University School of Medicine, Kawasaki, Japan.
Miki
M
Yoshiike
Department of Urology, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
Eitetsue
E
Koh
Department of Urology, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
Jiro
J
Kanaya
Department of Urology, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
Mikio
M
Namiki
Department of Urology, Osaka Police Hospital, Osaka, Japan.
Kiyomi
K
Matsumiya
Department of Urology, Graduate School of Medicine, Faculty of Medicine, Osaka University, Osaka, Japan.
Akira
A
Tsujimura
Department of Urology, Harasanshinkai Hospital, Fukuoka, Japan.
Kiyoshi
K
Komatsu
Department of Urology, Sapporo Medical University, Sapporo, Japan.
Naoki
N
Itoh
Department of Urology, Nagasaki University, Nagasaki, Japan.
Jiro
J
Eguchi
Department of Pharmaceutical Information Science, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan.
Aiko
A
Yamauchi
Department of Human Genetics and Public Health, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan.
Yutaka
Y
Nakahori
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D005298:Fertility / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007248:Infertility, Male / Q000208:ethnology / Q000235:genetics*; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D015995:Prevalence; D055101:Semen Analysis; D013094:Spermatozoa / Q000502:physiology; D055815:Young Adult
Japanese men; Y chromosome; fertility; genetics; gr/gr subdeletion; male infertility; semen quality; sperm