Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion

Infertility affects around 1 in 10 men and in most cases the cause is unknown. The Y chromosome plays an important role in spermatogenesis and specific deletions of this chromosome, the AZF deletions, are associated with spermatogenic failure. Recently partial AZF deletions have been described but their association with spermatogenic failure is unclear. Here we screened a total of 339 men with idiopathic spermatogenic failure, and 256 normozoospermic ancestry-matched men for chromosome microdeletions including AZFa, AZFb, AZFc, and the AZFc partial deletions (gr/gr, b1/b3 and b2/b3)

Novel variants of mitochondrial DNA associated with Type 2 diabetes mellitus in Moroccan population

<p>In this study, we investigated the association of mtDNA variants and haplogroups with Type 2 diabetes (T2D) in Moroccan patients. The Hypervariable Segments 1 of the mtDNA was sequenced in 108 diabetic patients and 97 controls. Association analyses were performed using Fisher’s exact test and multivariate logistic regression. The prevalence of five mtDNA variants (C16187T, C16270T, T16172C, A16293G, and C16320T) was significantly higher in cases than in controls. Among these variants, only C16270T (<i>p</i> = .02) and C16320T (<i>p</i> = .03) remains significant after adjusting by age and gender. We showed that C16270T and C16320T variants were strongly associated with increased risk of T2D in Moroccan patients.</p

Classification of case and control cohorts according to WHO criteria and incidence of Y chromosome microdeletions.

<p>Y chromosome haplogroup is indicated for 31 samples with partial AZFc deletions.</p