Dataset Information

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

ABSTRACT: There have been no comprehensive studies of a full range of blood group polymorphisms within the Australian population. This problem is compounded by the absence of any databases carrying genomic information on chronically transfused patients and low frequency blood group antigens in Australia. Here, we use RBCeq, a web server-based blood group genotyping software, to identify unique blood group variants among Australians and compare the variation detected vs global data. Whole-genome sequencing data were analyzed for 2796 healthy older Australians from the Medical Genome Reference Bank and compared with data from 1000 Genomes phase 3 (1KGP3) databases comprising 661 African, 347 American, 503 European, 504 East Asian, and 489 South Asian participants. There were 661 rare variants detected in this Australian sample population, including 9 variants that had clinical associations. Notably, we identified 80 variants that were computationally predicted to be novel and deleterious. No clinically significant rare or novel variants were found associated with the genetically complex ABO blood group system. For the Rh blood group system, 2 novel and 15 rare variants were found. Our detailed blood group profiling results provide a starting point for the creation of an Australian blood group variant database.

SUBMITTER: Jadhao S

PROVIDER: S-EPMC9636324 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature

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Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Jadhao Sudhir S Davison Candice C Roulis Eileen V EV Lee Simon S Lacaze Paul P Riaz Moeen M McNeil John J JJ Thomas David M DM Pecheniuk Natalie M NM Hyland Catherine A CA Flower Robert L RL Nagaraj Shivashankar H SH

Blood advances 20220801 15

There have been no comprehensive studies of a full range of blood group polymorphisms within the Australian population. This problem is compounded by the absence of any databases carrying genomic information on chronically transfused patients and low frequency blood group antigens in Australia. Here, we use RBCeq, a web server-based blood group genotyping software, to identify unique blood group variants among Australians and compare the variation detected vs global data. Whole-genome sequencing ...[more]

PMID: 35420653

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Project description:IntroductionHearing loss is common in ageing populations, but thorough investigation of factors associated with objective hearing loss in otherwise healthy, community-dwelling older individuals is rare. We examined prevalence of age-related hearing loss (ARHL) in healthy, community-dwelling older adults, and determined whether sociodemographic, lifestyle, or health factors associate with hearing thresholds. Audiometry assessment was investigated with self-reports of hearing loss and hearing handicap.MethodsAustralian participants (n = 1,260) of median age 73 years (IQR 71-76) joined ASPirin in Reducing Events in the Elderly (ASPREE)-Hearing, a sub-study of the ASPREE trial with exclusions including cognitive impairment, cardiovascular disease, independence-limiting physical disability, and uncontrolled hypertension. ASPREE collected demographics, anthropometrics, lifestyle, and health data. Audiometry measured better ear pure-tone average (PTA) across four frequencies (0.5-4 kHz) to establish hearing thresholds, categorised as normal or mild, moderate, and severe hearing loss. Questionnaires collected perceived hearing problems and noise exposure.ResultsARHL prevalence by audiometry was 49.7%, affecting men (59%) more than women (41%). A majority (54.5%) self-reported some hearing problems which mostly aligned with objective assessments; 45.6% self-reported a "little trouble" with hearing, while 35% had objective mild hearing loss; 8.3% reported having a "lot of trouble" hearing, while 13% had moderate hearing loss; and 0.6% reported being "deaf," while 2% demonstrated severe hearing loss. There was a significant association (p < 0.001) between self-reported hearing handicap and audiometric measures of hearing loss. In multivariate analysis of health, demographics, and lifestyle risk factors, only age, gender (men), and education years (<12) remained associated (p < 0.05) with hearing loss. Hearing thresholds were not associated with smoking, living situation, alcohol use, hypertension, diabetes, or chronic kidney disease.ConclusionARHL robustly assessed by audiometry is common among healthy older Australians with men more likely to have abnormal hearing thresholds than women. Hearing loss was associated with fewer years of formal education, but not with a range of chronic conditions or alcohol use. Self-reported hearing loss correlates well with higher PTA hearing threshold levels in this healthy cohort where prevalence was lower than previously reported for the age group 70+ years. Hearing health education remains an important public health tool for this age. Targeting hearing in older patient health checks could be beneficial to mitigate the cognitive, social, and mental health consequences of ARHL, even if patients do not report a problem or handicap.

Dataset Information

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Publications

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

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