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Implications of y haplogroup fertility studies
Topic Started: May 11 2009, 01:27:19 PM (315 Views)
black man
The Right Hand
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These studies are usually rather special and thus need to be dealt with in a certain manner because their primary goal is not to solve questions of population genetics. Sample selection is usually (if not always) according to the location of clinics, not according to e.g. birth place of patients. This might confuse the beginners among the readers. Therefore, I started this separate thread.

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Sin Ho-Su et al. 2010: Features of constitutive gr/gr deletion in a Japanese population

pp.2-3
Quote:
 
In total, 395 infertile men and 377 fertile men were enrolled in this study. General clinical data and blood samples were obtained from Kiba Clinic, Kyono ART clinic and the Department of Urology of Kanazawa University Hospital.


As far as I can judge, Kiba clinic is in Okayama Misaki, Kyono ART clinic is in Miyagi Sendai and Kanazawa University Hospital is Ishikawa Kanazawa.

p.3
Quote:
 
On the basis of eight markers—YAP, RPS4Y711, M213, M174, M9, M116, M231 and M175—subjects were partitioned into eight haplogroups (YChromosomeConsortium, 2002).


But...

p.4
Quote:
 
We observed seven different haplogroups and the number of subjects in each haplogroup was as follows: O (408) . D2 + D* (265) . C (66) . K* (16) . N (11) . E* (6) (Fig. 2).


So it's not clear whether any marker(s) for hg E were tested afterwards or in a parallel study.

Haplogroup distribution of the geographically pooled samples:

normozoospermia:
- C: 27/377=7,2%
- DE(xD,E!) or E: 2/377=0,5%
- D(xD2-M116): 13/377=3,4%
- D2-M116: 121/377=32,1%
- F(xK): 0/377=0%
- K(xN,O): 6/377=1,6%
- N: 2/377=0,5%
- O: 54,6%

oligozoospermia:
- C: 13/141=9,2%
- DE(xD,E!) or E: 1/141=0,7%
- D(xD2-M116): 9/141=6,4%
- D2-M116: 32/141=22,7%
- F(xK): 0/141=0%
- K(xN,O): 4/141=2,8%
- N: 6/141=4,3%
- O: 76/141=53,9%

azoospermia:
- C: 26/254=10,2%
- DE(xD,E!) or E: 3/254=1,2%
- D(xD2-M116): 8/254=3,1%
- D2-M116: 82/254=32,3%
- F(xK): 0/254=0%
- K(xN,O): 6/254=2,4%
- N: 3/254=1,2%
- O: 126/254=49,6%

=>
- C: apparently common
- DE(xD,E!) or E: Japanese or non-Japanese?
- D(xD2-M116): according to the isogg 2010 tree, these markers within hg D2 are or could be upstream to M116: M55, M57, M64.1, M179, M359.1/P41.1, P37.1, P190, 12f2.2
- D2-M116: apparently less concerned by oligospermia than other hgs
- F(xK): apparently un-Japanese
- K(xN,O): NO(xN,O), Q, West Eurasian... ?
- N: once again, overrepresented in less fertile men
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