Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility.

ABSTRACT:

Background

Previous studies in animal models evidenced that genetic mutations of KATNAL1, resulting in dysfunction of its encoded protein, lead to male infertility through disruption of microtubule remodelling and premature germ cell exfoliation. Subsequent studies in humans also suggested a possible role of KATNAL1 single-nucleotide polymorphisms in the development of male infertility as a consequence of severe spermatogenic failure.

Objectives

The main objective of the present study is to evaluate the effect of the common genetic variation of KATNAL1 in a large and phenotypically well-characterised cohort of infertile men because of severe spermatogenic failure.

Materials and methods

A total of 715 infertile men because of severe spermatogenic failure, including 210

SUBMITTER: Cervan-Martin M 

PROVIDER: S-EPMC9546047 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature