Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.

For GALNT2 , an average but borderline significant 0.52 mmol/L HDLc increase was observed in 10 total GALNT2 mutation carriers vs. 11 first-degree controls (+34.2%, p = 0.093), suggesting that either GALNT2 mutations have weaker or more variable effects than LIPG and CETP mutations on HDLc elevation and/or these families have insufficient power for detecting significant GALNT2 mutation associations with increased HDLc.

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In contrast, the frequencies of these very rare CETP and GALNT2 mutations did not reach statistical significance in our small and likely underpowered cohort of total probands, indicating the need to test the segregation of these mutations with elevated HDLc in family members.

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