{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T11:49:42Z","timestamp":1768564182720,"version":"3.49.0"},"posted":{"date-parts":[[2023,3,24]]},"group-title":"Genetic and Genomic Medicine","reference-count":28,"publisher":"openRxiv","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2023,3,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>\n                    The microtubule-associated protein tau (\n                    <jats:italic>MAPT<\/jats:italic>\n                    ) gene is critical because of its putative role in the causal pathway of neurodegenerative diseases including Parkinson\u2019s disease (PD). However, there is a lack of clarity regarding the link between the main H1 haplotype and risk of PD. Inconsistencies in reported association may be driven by genetic variability in the populations studied to date. Data on\n                    <jats:italic>MAPT<\/jats:italic>\n                    haplotype frequencies in the general population and association studies exploring the role of\n                    <jats:italic>MAPT<\/jats:italic>\n                    haplotypes in conferring PD risk in black Africans are lacking.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>\n                    To determine the frequencies of\n                    <jats:italic>MAPT<\/jats:italic>\n                    haplotypes and explore the role of the H1 haplotype as a risk factor for PD risk and age at onset in Nigerian Africans.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>\n                    The haplotype and genotype frequencies of\n                    <jats:italic>MAPT<\/jats:italic>\n                    rs1052553 were analysed using PCR-based KASP\u2122 in 907 individuals with PD and 1,022 age-matched neurologically normal controls from the Nigeria Parkinson\u2019s Disease Research (NPDR) network cohort. Clinical data related to PD included age at study, age at onset, and disease duration.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>\n                    The frequency of the main\n                    <jats:italic>MAPT<\/jats:italic>\n                    H1 haplotype in this cohort was 98.7% in individuals with PD, and 99.1% in healthy controls (p=0.19). The H2 haplotype was present in 41\/1929 (2.1%) of the cohort (PD - 1.3%; Controls - 0.9%; p=0.24). The most frequent\n                    <jats:italic>MAPT<\/jats:italic>\n                    genotype was H1H1 (PD - 97.5%, controls - 98.2%). The H1 haplotype was not associated with PD risk after accounting for gender and age at onset (Odds ratio for H1\/H1 vs H1\/H2 and H2\/H2: 0.68 (95% CI:0.39-1.28); p=0.23).\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>\n                    Our findings support previous studies that report a low frequency of the\n                    <jats:italic>MAPT<\/jats:italic>\n                    H2 haplotype in black ancestry Africans, but document its occurrence in the Nigerian population (2.1%). In this cohort of black Africans with PD, the\n                    <jats:italic>MAPT<\/jats:italic>\n                    H1 haplotype was not associated with an increased risk or age at onset of PD.\n                  <\/jats:p>\n                <\/jats:sec>","DOI":"10.1101\/2023.03.24.23287684","type":"posted-content","created":{"date-parts":[[2023,3,24]],"date-time":"2023-03-24T18:45:20Z","timestamp":1679683520000},"source":"Crossref","is-referenced-by-count":0,"title":["<i>MAPT<\/i>\n                  allele and haplotype frequencies in Nigerian Africans: population distribution and association with Parkinson\u2019s disease risk and age at 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