FAM78B and Chronic Kidney Disease

This summary evaluates the association of FAM78B (HGNC:13495) with chronic kidney disease (MONDO_0005300) based on data from genome‑wide association studies. The evidence originates from a well‐designed GWAS in Japanese individuals that identified several susceptibility loci at chromosome 3q28, including FAM78B among other candidate genes.

The overall clinical validity is assessed as Moderate. Three independent cohorts, comprising 252 (PMID:23539754), 910 (PMID:23539754), and 190 (PMID:23539754) affected individuals were analyzed, and statistically significant SNP associations were observed. This repeated observation across multiple subject panels supports the gene‐disease association even though the effect sizes typical of GWAS require further investigation.

Genetic evidence stems from the robust identification of significant SNPs at the chromosome 3q28 locus, where FAM78B is one of the five genes implicated. Notably, the variant spectrum remains limited as no valid HGVS coding change was reported in the supplied evidence, and thus variant‐level details could not be incorporated. The GWAS data provide moderate genetic support for FAM78B’s contribution to chronic kidney disease susceptibility.

There is a lack of functional or experimental evidence to conclusively outline the pathogenic mechanism underlying this association. No relevant in vitro or in vivo models, expression studies, or rescue experiments were provided to explain how FAM78B variants modulate disease risk. Consequently, functional evidence remains limited despite the replicated genetic association.

In conclusion, while the replicated GWAS findings across large cohorts yield a moderately strong gene‐disease association, the absence of segregation and functional data underscores the need for additional research. Key take‑home sentence: FAM78B emerges as a promising susceptibility factor for chronic kidney disease, warranting further functional characterization to enhance diagnostic and therapeutic strategies.

References

• Journal of medical genetics • 2013 • Identification of chromosome 3q28 and ALPK1 as susceptibility loci for chronic kidney disease in Japanese individuals by a genome‑wide association study PMID:23539754

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