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Male Infertility

From SNPedia


See also Female Infertility

A lot of studies on the topic do not use standard SNP codes, let alone DNA microarrays, and tend to refer to protein substitutions directly. This makes matching them to SNP results challenging. In general interest seems to be at least in PRM1, PRM2, KIT and KITLG proteins.

One category of male infertility pathologies involves sperm motility, and malformed sperm flagella can therefore be a cause for infertility. The relatively recently (2014) named multiple morphological abnormalities of the flagella (MMAF) includes a combination of such flagellar defects. Recessively inherited mutations in at least the following five genes are considered to cause MMAF: DNAH1 (perhaps 28-44% of all MMAF mutations), AKAP4, CCDC39, CFAP43 and CFAP44.[PMID 28552195]

Other mutations reported to be associated with male infertility include:


[PMID 23079002] PRM1 variant rs35576928 (Arg>Ser) is associated with defective spermatogenesis in the Chinese Han population

[PMID 22197933]

  • each copy of a C at rs955988 (equivalent to rs12097821 in the study) was associated with 1.25 times higher odds of non-obstructive azoospermia
  • each copy of a T at rs10910078 (equivalent to rs2477686 in the study) was associated with about 1.4 times higher odds of non-obstructive azoospermia
  • rs10842262 associated with non-obstructive azoospermia


10.1016/j.cell.2017.04.034 Ubiquitination-Deficient Mutations in Human Piwi Cause Male Infertility by Impairing Histone-to-Protamine Exchange during Spermiogenesis