Associations between male infertility and ancestry in South Americans: a case control study

Abstract

BackgroundInfertility affects 15% of human couples, with men being responsible in approximately 50% of cases. Moreover, the aetiology of male factor infertility is poorly understood. The majority of male factor infertility remains idiopathic and potentially genetic in origin. The association of the Y chromosome and mitochondrial haplogroups with male infertility has been previously reported. This association differs between studied populations and their geographical distributions. These effects have been only rarely analysed in mixed populations, such as South Americans.MethodsIn this study, we analysed the contributions of the Y chromosome and mitochondrial haplogroups to male infertility in a mixed population. A case control study was conducted. Regular PCR and high-resolution-melting-real-time PCR were performed to type haplogroups from fertile and infertile men.The sperm parameters from infertile men were compared in each haplogroup by logistic regression analysis and ANOVA.ResultsThe genotyping confirmed the known admixture characteristic of the Uruguayan population. The European paternal contribution was higher than the maternal contribution in both fertile and infertile men. Neither maternal nor paternal ancestry presented differences between the cases and controls. Men belonging to the Y chromosome haplogroup F(xK) more frequently presented with an abnormal sperm morphology than men from other haplogroups. The sperm parameters were not associated with the mitochondrial haplogroups.ConclusionsThe data presented in this study showed an association between male infertility and ancestry in the Uruguayan population.Specifically, abnormal sperm morphology was associated with the Y chromosome haplogroup F(xK). Since the Y chromosome lacks recombination, these data suggest that some genes that determine sperm morphology might be inherited in blocks with the region that determines specific haplogroups. However, the possible association between the Y chromosome haplogroup F(xK) and sperm morphology requires further confirmatory testing. Data linking infertility with ancestry are needed to establish the possible causes of infertility and define male populations susceptible to infertility. Whether the admixed characteristics of the Uruguayan population exert any pressure on male fertility potential must be further investigated.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-017-0438-z) contains supplementary material, which is available to authorized users.

Forensic Relationship between ATP6 Gene and Sperm Motility in a Saudi Population

“…Asthenospermia was identified by reduction in sperm motility lower than 40% motile sperms. Accordingly, Skowronek et al (2017) identified oligozoospermia with less than 15 million sperms per ml semen. These authors classified asthenozoospermia by total sperm motility less than 32%.…”

“…One of the M subhaplogroup (M25) was found in infertile men of the present study. Inversely, Skowronek et al (2017) found that Americans with haplogroup F of the Y chromosome were highly frequent with teratospermia. The authors claimed that there was no correlation between sperm parameters and the haplogroups predicted from mitochondrial DNA.…”

“…Mitochondrial DNA supported significant insights into the maternal histories of human migrations (Jobling, 2012;Lippold et al, 2014). Few trials analyzed the possible correlation of mtDNA variants with male fertility (Skowronek et al, 2017). So far no forensic study has been conducted on the whole mtDNA of the infertile (low motile, morphological aberrations or low count) sperms.…”

Association of MSY haplotype background with nonobstructive azoospermia is AZF‐dependent: A case‐control study

“…R1a and E in a study of 338 azoospermic/oligozoospermic patients from different ethnic backgrounds in the Balkans (Kuzmanovska et al, 2019), and also for haplogroup F(xK) with abnormal sperm morphology in Uruguayan (Skowronek et al, 2017), Q1a3a with AZFb deletions in Chilean (Lardone et al, 2013), and K* with azoospermia/ oligozoospermia in Latvian population (Puzuka et al, 2011).…”

Association between polymorphisms in the XRCC1 gene and male infertility risk

“…[ 1 , 2 ] Male factors account for ∼50% of infertile couples who are unable to conceive, due to marital and psychosocial stress. [ 3 ] Many factors have an adverse impact on male reproductive health, including lifestyle, [ 4 , 5 ] intratesticular varicocele, [ 6 ] varicocele, [ 7 – 9 ] ancestry, [ 10 ] SNPs, [ 11 , 12 ] etc. Unfortunately, the pathogenesis of this disease remains unknown.…”