OBJECTIVE: To evaluate whether the arctic variant (c.1436C→T) of carnitine palmitoyltransferase type 1A (CPT1A) is associated with a higher incidence of adverse health outcomes in Alaska Native infants and children. STUDY DESIGN: We evaluated health measures from birth certificates (n = 605) and Alaska Medicaid billing claims (n = 427) collected from birth to 2.5 years of age for a cohort of Alaska Native infants with known CPT1A genotype. To account for geographic variations in gene distribution and other variables, data also were evaluated in cohorts. RESULTS: When analysis was restricted to residents of nonhub communities in Western and Northern Alaska, children homozygous for the arctic variant experienced more episodes of lower respiratory tract infection than did heterozygous or noncarrier children (5.5 vs 3.7, P = .067) and were more likely to have had otitis media (86% vs 69%, 95% CI 1.4-8.9). Associations were weaker for more homogeneous cohorts. CONCLUSIONS: The association of the arctic variant of CPT1A with infectious disease outcomes in children between birth and 2.5 years of age suggests that this variant may play a role in the historically high incidence of these health outcomes among indigenous Arctic populations; further studies will need to assess if this association was confounded by other risk factors.
OBJECTIVE: To evaluate whether the arctic variant (c.1436C→T) of carnitine palmitoyltransferase type 1A (CPT1A) is associated with a higher incidence of adverse health outcomes in Alaska Native infants and children. STUDY DESIGN: We evaluated health measures from birth certificates (n = 605) and Alaska Medicaid billing claims (n = 427) collected from birth to 2.5 years of age for a cohort of Alaska Native infants with known CPT1A genotype. To account for geographic variations in gene distribution and other variables, data also were evaluated in cohorts. RESULTS: When analysis was restricted to residents of nonhub communities in Western and Northern Alaska, children homozygous for the arctic variant experienced more episodes of lower respiratory tract infection than did heterozygous or noncarrier children (5.5 vs 3.7, P = .067) and were more likely to have had otitis media (86% vs 69%, 95% CI 1.4-8.9). Associations were weaker for more homogeneous cohorts. CONCLUSIONS: The association of the arctic variant of CPT1A with infectious disease outcomes in children between birth and 2.5 years of age suggests that this variant may play a role in the historically high incidence of these health outcomes among indigenous Arctic populations; further studies will need to assess if this association was confounded by other risk factors.
Authors: Jizhen Lin; Lena Hafrén; Joseph Kerschner; Jian-Dong Li; Steve Brown; Qing Y Zheng; Diego Preciado; Yoshihisa Nakamura; Qiuhong Huang; Yan Zhang Journal: Otolaryngol Head Neck Surg Date: 2017-04 Impact factor: 3.497
Authors: Sorcha A Collins; Gertrude Elizabeth Hildes-Ripstein; James Robert Thompson; Sharon Edmunds; Amber Miners; Cheryl Rockman-Greenberg; Laura Arbour Journal: Paediatr Child Health Date: 2020-04-03 Impact factor: 2.253
Authors: Sorcha A Collins; Sharon Edmunds; Gwen Healey Akearok; J Robert Thompson; Anders C Erickson; Elske Hildes-Ripstein; Amber Miners; Martin Somerville; David M Goldfarb; Cheryl Rockman-Greenberg; Laura Arbour Journal: Front Pediatr Date: 2021-07-06 Impact factor: 3.418
Authors: Bradford D Gessner; Thalia Wood; Monique A Johnson; Carolyn Sue Richards; David M Koeller Journal: Genet Med Date: 2016-01-28 Impact factor: 8.822