Multiple sclerosis (Houndmills, Basingstoke, England) · 2025
Differential results of genetic risk scoring for multiple sclerosis in European and African American populations.
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Rivier Cyprien A, Xu Leqi, Clocchiatti-Tuozzo Santiago, Zhao Hongyu, Ohno-Machado Lucila, Hafler David A, Falcone Guido J, Longbrake Erin E
Аннотация
BACKGROUND: Genetic risk scores (GRSs) for multiple sclerosis (MS) help identify high-risk individuals and stratify populations for clinical trials, but most are derived from European populations, raising questions about GRS accuracy in other ancestries.
OBJECTIVES: We aimed to determine whether an MS GRS can stratify individuals of African and Latino/admixed ancestry and assess whether the JointPRS tool enhances GRS portability in African ancestry.
METHODS: In this cross-sectional study using All of Us (2018-2022), we derived a GRS from 232 variants for 32,428 European, 32,428 African, and 32,428 Latino/admixed participants, each divided into quintiles. The outcome was MS ascertained through International Classification of Diseases (ICD)-9/10 and Systematized Nomenclature of Medicine (SNOMED) codes. JointPRS was used to improve GRS portability in the African-ancestry group.
RESULTS: MS prevalence was 1.0% in European, 0.56% in African, and 0.46% in Latino/admixed participants. The GRS stratified MS risk effectively in European (odds ratio (OR) = 2.30 (1.60-3.36); p-trend < 0.001) and Latino/admixed (OR = 2.53 (1.43-4.85); p-trend < 0.001) ancestry groups but did not significantly partition African participants (OR = 1.30 (0.88-1.95); p-trend = 0.17). After applying JointPRS, stratification in African ancestry improved (OR = 3.02 (1.00-8.95); p-trend = 0.007).
DISCUSSION: A GRS for MS stratified European and Latino/admixed individuals but not African ancestry. Incorporating African-specific data enhanced performance, underscoring the need for more ancestry-tailored GRS.
OBJECTIVES: We aimed to determine whether an MS GRS can stratify individuals of African and Latino/admixed ancestry and assess whether the JointPRS tool enhances GRS portability in African ancestry.
METHODS: In this cross-sectional study using All of Us (2018-2022), we derived a GRS from 232 variants for 32,428 European, 32,428 African, and 32,428 Latino/admixed participants, each divided into quintiles. The outcome was MS ascertained through International Classification of Diseases (ICD)-9/10 and Systematized Nomenclature of Medicine (SNOMED) codes. JointPRS was used to improve GRS portability in the African-ancestry group.
RESULTS: MS prevalence was 1.0% in European, 0.56% in African, and 0.46% in Latino/admixed participants. The GRS stratified MS risk effectively in European (odds ratio (OR) = 2.30 (1.60-3.36); p-trend < 0.001) and Latino/admixed (OR = 2.53 (1.43-4.85); p-trend < 0.001) ancestry groups but did not significantly partition African participants (OR = 1.30 (0.88-1.95); p-trend = 0.17). After applying JointPRS, stratification in African ancestry improved (OR = 3.02 (1.00-8.95); p-trend = 0.007).
DISCUSSION: A GRS for MS stratified European and Latino/admixed individuals but not African ancestry. Incorporating African-specific data enhanced performance, underscoring the need for more ancestry-tailored GRS.