MAPT allele and haplotype frequencies in Nigerian Africans: population distribution and association with Parkinson's disease risk and age at onset.
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Okunoye Olaitan, Ojo Oluwadamilola, Abiodun Oladunni, Abubakar Sani, Achoru Charles, Adeniji Olaleye, Agabi Osigwe, Agulanna Uchechi, Akinyemi Rufus, Ali Mohammed, Ani-Osheku Ifeyinwa, Arigbodi Owotemu, Bello Abiodun, Erameh Cyril, Farombi Temitope, Fawale Michael, Imarhiagbe Frank, Iwuozo Emmanuel, Komolafe Morenikeji, Nwani Paul, Nwazor Ernest, Nyandaiti Yakub, Obiabo Yahaya, Odeniyi Olanike, Odiase Francis, Ojini Francis, Onwuegbuzie Gerald, Osaigbovo Godwin, Osemwegie Nosakhare, Oshinaike Olajumoke, Otubogun Folajimi, Oyakhire Shyngle, Ozomma Simon, Samuel Sarah, Taiwo Funmilola, Wahab Kolawole, Zubair Yusuf, Hernandez Dena, Bandres-Ciga Sara, Blauwendraat Cornelis, Singleton Andrew, Houlden Henry, Hardy John, Rizig Mie, Okubadejo Njideka
Аннотация
OBJECTIVES: To determine the frequencies of MAPT haplotypes and explore the role of the H1 haplotype as a risk factor for PD risk and age at onset in Nigerian Africans.
METHODS: The haplotype and genotype frequencies of MAPT rs1052553 were analysed using PCR-based KASP™ in 907 individuals with PD and 1,022 age-matched neurologically normal controls from the Nigeria Parkinson's Disease Research (NPDR) network cohort. Clinical data related to PD included age at study, age at onset, and disease duration.
RESULTS: The frequency of the main MAPT 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 MAPT 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).
CONCLUSIONS: Our findings support previous studies that report a low frequency of the MAPT 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 MAPT H1 haplotype was not associated with an increased risk or age at onset of PD.