Cognitive Genomics: Recent Advances and Current Challenges

Fitzgerald, Joan; Morris, Derek W.; Donohoe, Gary

doi:10.1007/s11920-019-1125-x

Cited by 8 publications

(23 citation statements)

References 76 publications

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“…Here, we focused on latent cognitive ability which encompasses domain-specific and global cognitive function outside of educational attainment (Goriounova and Mansvelder, 2019;Fitzgerald et al, 2020). Collecting cognition data is further complicated by using screening tools which have not been validated for transferability across populations; therefore, the OCS-Plus tool was developed to provide an alternative method for capturing cognition data in low-income populations that was neither reliant on literacy nor numeracy (Humphreys et al, 2017).…”

Section: Discussionmentioning

confidence: 99%

“…We aimed to address the lack of African data for large cohorts that can be used to examine the genetics of cognition and cognitive decline, specifically in rural areas where vulnerability to cognitive impairment and dementia is becoming a major public health concern ( Kobayashi et al, 2019 ). Association studies have observed genetic variation in neurocognitive traits between different ethnicities ( Savitz et al, 2006 ; Fitzgerald et al, 2020 ). Here, we determined APOE allele frequency distribution for our dataset and then compared this to existing data from other population groups.…”

Section: Discussionmentioning

confidence: 99%

“…Here, we determined APOE allele frequency distribution for our dataset and then compared this to existing data from other population groups. The genetic contribution to cognitive function is complex, and the tests used to define levels of cognition have made equitable comparisons between studies difficult ( Savitz et al, 2006 ; Goriounova and Mansvelder, 2019 ; Fitzgerald et al, 2020 ). This is especially challenging in a low literacy setting despite the development of tests to assess cognition regardless of levels of literacy.…”

Section: Discussionmentioning

confidence: 99%

“…Nonetheless, both literacy and level of education are still associated with cognition in this study cohort ( Kobayashi et al, 2019 ; Farrell et al, 2020 ). Traditionally, intelligence has been measured using the intelligence quotient (IQ) or Spearman’s g (used in meta-analyses), which are biased towards access to formal education (as they focus mostly on aspects related to literacy and numeracy) ( Goriounova and Mansvelder, 2019 ; Fitzgerald et al, 2020 ). Here, we focused on latent cognitive ability which encompasses domain-specific and global cognitive function outside of educational attainment ( Goriounova and Mansvelder, 2019 ; Fitzgerald et al, 2020 ).…”

Section: Discussionmentioning

confidence: 99%

“…Traditionally, intelligence has been measured using the intelligence quotient (IQ) or Spearman’s g (used in meta-analyses), which are biased towards access to formal education (as they focus mostly on aspects related to literacy and numeracy) ( Goriounova and Mansvelder, 2019 ; Fitzgerald et al, 2020 ). Here, we focused on latent cognitive ability which encompasses domain-specific and global cognitive function outside of educational attainment ( Goriounova and Mansvelder, 2019 ; Fitzgerald et al, 2020 ). Collecting cognition data is further complicated by using screening tools which have not been validated for transferability across populations; therefore, the OCS-Plus tool was developed to provide an alternative method for capturing cognition data in low-income populations that was neither reliant on literacy nor numeracy ( Humphreys et al, 2017 ).…”

Section: Discussionmentioning

confidence: 99%

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Apolipoprotein E Genetic Variation and Its Association With Cognitive Function in Rural-Dwelling Older South Africans

et al. 2021

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Apolipoprotein E (APOE) 𝜀4 allele carrier status is well known for its association with an increased likelihood of developing Alzheimer’s disease, but its independent role in cognitive function is unclear. APOE genetic variation is understudied in African populations; hence, this cross-sectional study in a rural South African community examined allele and genotype frequencies, and their associations with cognitive function. Cognitive function was assessed using two different screening methods to produce a total cognition score and four domain-specific cognition scores for verbal episodic memory, executive function, language, and visuospatial ability. Cognitive phenotype and APOE genotype data were used to determine whether APOE variation was significantly associated with cognitive function in this population. Observed allele frequencies for 1776 participants from the HAALSI study [age 40–80years (mean=56.19); 58.2% female] were 58.1% (𝜀3), 25.4% (𝜀4) and 16.5% (𝜀2). Allele distributions were similar to the African super population, but different from all non-African super populations from the 1,000 Genomes Project. The 𝜀3 homozygous genotype was most common (34.9%) and used as the base genotype for comparison in regression models. Four models were tested for each of the five cognitive phenotypes to explore association of APOE variation with cognitive function. In the first model assessing association with all genotypes for all individuals, marginally significant associations were observed for 𝜀2 homozygotes where executive function scored higher by ~0.5 standard deviations (p=0.037, SE=0.23), and for 𝜀3/𝜀4 heterozygotes where visuospatial ability scores were lower (p=0.046, SE=0.14). These did not survive correction for multiple testing. Regional African population differences were observed at the APOE locus. Marginally, significant associations between APOE genotype, and executive function and visuospatial ability indicate the need for larger studies to better examine these associations in African populations. Furthermore, longitudinal data could shed light on APOE genetic association with rate of change, or decline, in cognitive function.

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Section: Discussionmentioning

confidence: 99%