@article{TEXTUAL,
      recid = {5972},
      author = {Batai, Ken and Cui, Zuxi and Arora, Amit and  Shah-Williams, Ebony and Hernandez, Wenndy and Ruden, Maria  and Hollowell, Courtney M. P. and Hooker, Stanley E. and  Bathina, Madhavi and Murphy, Adam B. and Bonilla, Carolina  and Kittles, Rick A.},
      title = {Genetic loci associated with skin pigmentation in African  Americans and their effects on vitamin D deficiency},
      journal = {PLOS Genetics},
      address = {2021-02-18},
      number = {TEXTUAL},
      abstract = {<p>A recent genome-wide association study (GWAS) in  African descent populations identified novel loci  associated with skin pigmentation. However, how genomic  variations affect skin pigmentation and how these skin  pigmentation gene variants affect serum 25(OH) vitamin D  variation has not been explored in African Americans (AAs).  In order to further understand genetic factors that affect  human skin pigmentation and serum 25(OH)D variation, we  performed a GWAS for skin pigmentation with 395 AAs and a  replication study with 681 AAs. Then, we tested if the  identified variants are associated with serum 25(OH) D  concentrations in a subset of AAs (n = 591). Skin  pigmentation, Melanin Index (M-Index), was measured using a  narrow-band reflectometer. Multiple regression analysis was  performed to identify variants associated with M-Index and  to assess their role in serum 25(OH)D variation adjusting  for population stratification and relevant confounding  variables. A variant near the SLC24A5 gene (rs2675345)  showed the strongest signal of association with M-Index (P  = 4.0 x 10−30 in the pooled dataset). Variants in SLC24A5,  SLC45A2 and OCA2 together account for a large proportion of  skin pigmentation variance (11%). The effects of these  variants on M-Index was modified by sex (P for interaction  = 0.009). However, West African Ancestry (WAA) also  accounts for a large proportion of M-Index variance (23%).  M-Index also varies among AAs with high WAA and high  Genetic Score calculated from top variants associated with  M-Index, suggesting that other unknown genomic factors  related to WAA are likely contributing to skin pigmentation  variation. M-Index was not associated with serum 25(OH)D  concentrations, but the Genetic Score was significantly  associated with vitamin D deficiency (serum 25(OH)D levels  less than 12 ng/mL) (OR, 1.30; 95% CI, 1.04–1.64). The  findings support the hypothesis suggesting that skin  pigmentation evolved responding to increased demand for  subcutaneous vitamin D synthesis in high latitude  environments.</p>},
      url = {http://knowledge.uchicago.edu/record/5972},
}