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In a Japanese study, this variant was associated with an increased risk for immunoglobulin A nephropathy (IgAN), a rare disease. The chances of having this disease, even with this variant, is less than 0.1%.
Gene associated with disease
See Obara W et al. 2003 (12740691).
This is describd as a susceptibility allele in OMIM; no family segregation data available.
See unpublished research (below).
IgA nephropathy is extremely rare. Assuming an incidence of 0.05%, this variant is associated with an additional risk of 0.023% (total of 0.073%).
Low clinical importance, Likely pathogenic
(The "low clinical importance, likely" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Obara W, Iida A, Suzuki Y, Tanaka T, Akiyama F, Maeda S, Ohnishi Y, Yamada R,
Tsunoda T, Takei T, Ito K, Honda K, Uchida K, Tsuchiya K, Yumura W, Ujiie T,
Nagane Y, Nitta K, Miyano S, Narita I, Gejyo F, Nihei H, Fujioka T, Nakamura Y.
Association of single-nucleotide polymorphisms in the polymeric immunoglobulin
receptor gene with immunoglobulin A nephropathy (IgAN) in Japanese patients. J
Hum Genet. 2003;48(6):293-9. Epub 2003 May 10. PubMed PMID: 12740691.
In a study of 389 Japanese individuals with immunoglobulin A nephropathy (IgAN) and 465 controls, this variant was found to associate with disease with an OR of 2.7. This variant is in the secretory component, but biopsies showed no correlation with immunoglobulin A levels.
huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr1:207106478