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Segregation analysis identifies specific alpha-defensin (DEFA1A3) SNP-CNV haplotypes in predisposition to IgA nephropathy.

Nzar A. A. Shwan, Eric C. Moise, Paula E. Necsoiu, Amy J. Farr,Daniel P. Gale,Jonathan Barratt,John A. L. Armour

Annals of human genetics（2023）

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Abstract
We observed overtransmission of 3-copy class 2 haplotypes (raw p = 0.029) and some evidence for under-transmission of 3-copy class 1 haplotypes (raw p = 0.051), although these apparent effects were not statistically significant after correction for testing of multiple haplotypes.
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Key words
Immunoglobulin A nephropathy,defensin,genetic association,haplotype
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