TEX15 rs2303428: Male Infertility & Research Facts
The genetic variant rs2303428 is a common single-nucleotide polymorphism located in the human genome that has been investigated for potential links to male factor reproductive traits and spermatogenic failure. Although cataloged in association studies evaluating candidate genes involved in meiotic chromosome biology and germline maintenance, clinical evidence connecting this specific variant directly to male infertility remains preliminary and limited. Having a particular genotype at rs2303428 does not diagnose fertility problems nor guarantee normal reproductive outcomes, serving primarily as an exploratory marker in population genetic studies.
What each genotype means
Typical risk profile
You carry two copies of the major A allele for this variant in the TEX15 gene. In association studies of spermatogenesis and male fertility parameters, this genotype is considered the standard reference background and is not linked to elevated risk. Male reproductive capacity is influenced by complex genetic and lifestyle factors, and carrying this genotype reflects baseline statistical risk.
Carried by approximately 60% to 75% of individuals worldwide, representing the most common genotype across most ancestry groups.
Modestly increased risk susceptibility
You carry one copy of the G risk allele alongside the common A allele. Some preliminary candidate-gene association studies, notably in European and Asian cohorts, have observed a modest statistical association between carrying the minor allele and reduced sperm counts or severe oligozoospermia. However, the overall evidence remains limited and male fertility is shaped by many environmental and genetic factors, so this variant alone is neither diagnostic nor deterministic.
Carried by roughly 25% to 35% of individuals in European and East Asian populations.
Elevated risk susceptibility
You carry two copies of the minor G allele in the TEX15 gene. Although research on this variant shows limited and non-diagnostic evidence, homozygous carriers have been evaluated in reproductive association studies for a higher susceptibility to spermatogenic impairment. A single genetic variant cannot predict fertility outcomes on its own, and clinical fertility evaluation remains the definitive method to assess reproductive function.
Carried by approximately 2% to 6% of people across diverse global populations.
Genomic Setting and the Function of TEX15
The single nucleotide polymorphism rs2303428 represents a single base-pair substitution (alleles C and T) situated within the human genome. In reproductive biology studies, research interest centers on TEX15 (Testis-Expressed Protein 15), located on chromosome 8p12. TEX15 encodes an essential, evolutionary conserved meiotic protein that is predominantly expressed in germ cells. During meiosis—the specialized cell division cycle responsible for generating sperm and egg cells—homologous chromosomes must align, undergo synapsis, and repair deliberate DNA double-strand breaks via homologous recombination. TEX15 coordinates the recruitment of crucial DNA repair proteins (such as RAD51 and DMC1) to sites of meiotic double-strand breaks. When TEX15 function is disrupted in animal models, male germ cells suffer meiotic arrest during early spermatogenesis, halting the production of mature, viable spermatozoa.
Research on Spermatogenic Failure and Male Infertility
Male factor infertility affects approximately 7% of men worldwide, with spermatogenic failure (SPGF) encompassing conditions ranging from severe oligozoospermia (low sperm counts) to non-obstructive azoospermia (complete absence of sperm in semen). Given the vital meiotic role of TEX15, researchers have explored whether common single-nucleotide polymorphisms in this pathway modulate an individual's susceptibility to impaired sperm production. Candidate gene association studies have evaluated several variants within meiotic recombination pathways. However, the direct statistical evidence linking rs2303428 to clinical spermatogenic failure is classified as limited. While rare, high-impact loss-of-function nonsense mutations in TEX15 are established causes of severe monogenic meiotic arrest and familial azoospermia, common polymorphisms like rs2303428 exhibit far smaller, inconsistent, and often population-specific statistical effects. Many observed associations in small case-control cohorts fail to achieve strict genome-wide significance upon broader replication.
Population Frequency and Ancestry Patterns
According to global population reference databases such as gnomAD and dbSNP, rs2303428 is a common polymorphism with a global minor allele frequency (MAF) typically ranging between 0.15 and 0.25 across diverse geographic ancestral groups. The T allele represents the more common reference allele across most studied populations, while the alternative C allele is present at polymorphic frequencies. Because the minor allele is carried by nearly one in five individuals worldwide, its presence alone cannot be considered pathogenic or deterministic for reproductive failure. Allele and genotype frequencies can differ moderately between European, East Asian, and African reference populations, which underscores why genetic association studies conducted in one regional population often show varied effect sizes or lack reproducibility when applied to other ancestries.
Clinical Interpretation: What You Can and Cannot Do
Understanding your genotype at rs2303428 is an educational window into human genetic variation, not a diagnostic test. Male fertility is a multifactorial trait shaped by hundreds of polygenic loci, structural variations (such as Y-chromosome microdeletions), hormonal balances, anatomical factors, and environmental lifestyle exposures. A direct-to-consumer genetic test reporting an association at rs2303428 cannot determine your sperm count, predict your reproductive timeline, or confirm infertility. If you or your partner have reproductive concerns or have been attempting conception without success, standard clinical diagnostics—beginning with a comprehensive semen analysis, clinical hormonal panel, and physical evaluation by a reproductive urologist or fertility specialist—remain the medically validated path forward.
How common is this variant?
The rs2303428 variant is common across multiple populations, exhibiting a global minor allele frequency (MAF) of approximately 0.15 to 0.25 in broad genomic databases.
Frequently asked questions
Does having the minor allele at rs2303428 mean I am infertile?
No. Carrying the minor allele at rs2303428 is very common in the general healthy population and does not mean you have or will experience infertility. Published research showing statistical associations between this variant and sperm parameters reflects exploratory population trends, not clinical diagnostic causation.
What is the difference between this SNP and a TEX15 gene mutation?
Common single-nucleotide polymorphisms (SNPs) like rs2303428 occur frequently in healthy people and usually exert subtle or negligible functional effects. In contrast, rare loss-of-function TEX15 mutations are severe, monogenic disruptors that completely break down meiotic recombination, resulting in familial non-obstructive azoospermia.
Should I order fertility testing because of this genetic result?
You should not make healthcare decisions solely based on an isolated SNP result from a personal genomics test. If you have been attempting conception for 12 months (or 6 months if the female partner is 35 or older) without success, consulting a reproductive specialist for standard semen analysis and evaluation is the recommended clinical course.
Why do some scientific studies show mixed results for this variant?
Complex human traits like male fertility involve many interacting genetic and environmental contributors. Early candidate gene studies often use modest sample sizes that can yield false positives or population-specific statistical anomalies that disappear when larger, multi-ethnic cohorts are analyzed.
Sources & further reading
Educational information only, last refreshed 9/14/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Missense polymorphism in TEX15 essential for DNA double-strand break repair during male meiosis, associated with non-obstructive azoospermia and oligospermia.
A coding variant in the testis-expressed gene TEX15 associated with DNA double-strand break repair during meiosis and susceptibility to non-obstructive azoospermia or severe oligospermia.