Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis

• DOI: 10.1016/j.jcf.2024.02.005
• Publication Date: 2024-02-21T09:02:58Z
• Authors: Andrew T. Braun; HuiChuan J. Lai; Anita Laxova; Julie A. Biller; Erin K. Hubertz; Zijie Zhao; Qiongshi Lu; Sangita Murali; Donna M. Brown; Elizabeth A. Worthey; Philip M. Farrell
• Keywords: Male; Adult; Cystic Fibrosis; Dietary Supplements; Humans; Female; Vitamins; Vitamin D; Vitamin D Deficiency

Vitamin D sufficiency has been difficult to achieve consistently in patients with cystic fibrosis (CF), even with robust oral supplements. To assess vitamin D status and resistance to supplementation, we studied 80 adults using 25-hydroxyvitamin D (25OHD) determinations and whole genome sequencing to construct polygenic risk scores (PRS) that aggregate variants associated with vitamin D status. The results revealed that 30 % of patients were below the threshold of 30 ng/mL and thus should be regarded as insufficient despite normal vitamin E status, a reflection of adherence to fat soluble vitamin supplementation. The PRS values were significantly correlated with 25OHD concentrations, confirming our results in children with CF, and indicating that genetic factors play a role and have implications for therapy.