title: Human mtDNA haplogroups and reduced male fertility: real association or hidden population substructuring.
abstract: A mitochondrial DNA (mtDNA) haplogroup association study carried out in 101 southern Portuguese males with oligozoospermia showed to be negative when comparing with a geographically matching control sample. Misleading positive association signs were however obtained when using other control samples from the same country. This shows that mtDNA population substructure can also introduce spurious signs in haplogroup association studies, as previously reported for Y-chromosome. However, our data do not exclude the probability that a particular mtDNA mutation contributes significantly to the reduction of sperm production, but indeed precludes the hypothesis of a significant association between such a mutation and specific haplogroup.
authors.affiliation: IPATIMUP (Instituto de Patologia e Imunologia Molecular da Universidade do Porto), Porto, Portugal. lpereira@ipatimup.pt
authors.forename: Luísa
authors.initials: L
authors.lastname: Pereira
authors.forename: João
authors.initials: J
authors.lastname: Gonçalves
authors.forename: Ana
authors.initials: A
authors.lastname: Goios
authors.forename: Tiago
authors.initials: T
authors.lastname: Rocha
authors.forename: António
authors.initials: A
authors.lastname: Amorim
mesh_terms: D022801:Complementarity Determining Regions / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D011174:Portugal
chemical_list: D022801:Complementarity Determining Regions; D004272:DNA, Mitochondrial