Table 6.
G6PD alleles of major clinical relevance and their ethnogeographic distribution
| Allele | Variants | Protein effect | Functional consequence | Main ethnogeographic groups (MAF in the general population) | References |
|---|---|---|---|---|---|
| Mediterranean | rs5030868 | p.S188F | Severe | Middle East and Southcentral Asia (1–9%) | Al-Allawi et al. (2010), Alfadhli et al. (2005), Doss et al. (2016), Jamornthanyawat et al. (2014) |
| Canton | rs72554665 | p.R459L | Severe | North Vietnam and South China (up to 6%) | He et al. (2020), Sathupak et al. (2021), Zheng et al. (2020) |
| Kaiping | rs72554664 | p.R463H | Severe | North Vietnam and South China (up to 5%) | He et al. (2020), Sathupak et al. (2021), Zheng et al. (2020) |
| Viangchan | rs137852327 | p.V291M | Severe | Southeast Asia, mostly Laos, Cambodia, Vietnam and Malaysia (up to 6%) | Matsuoka et al. (2005) |
| Chatham | rs5030869 | p.A335T | Severe | Central Asia (up to 3% in Iran) | Al-Allawi et al. (2010), Mesbah-Namin et al. (2002), Karimi et al. (2003) |
| Vanua Lava | rs78365220 | p.L128P | Severe | Pacific islands (up to 5%) | Ganczakowski et al. (1995), Satyagraha et al. (2015) |
| A-202A/376G | rs1050828 and rs1050829 | p.V68M and p.N126D | Moderate | Central Sub-Saharan Africa (10–24%) | Awandu et al. (2018), May et al. (2000), Pernaute-Lau et al. (2021) |
| A-968C/376G | rs1050829 and rs76723693 | p.N126D and p.L323P | Moderate | West Africa (up to 11%) | De Araujo et al. (2006), Howes et al. (2013) |
| Cairo | rs782322505 | p.N135T | Moderate | Middle East (up to 0.4%) | Koromina et al. (2021) |
| Kalyan-Kerala | rs137852339 | p.E317K | Moderate | India (3%) | Chalvam et al. (2007), Devendra et al. (2020) |
| Orissa | rs78478128 | p.A44G | Moderate | India (1–3%) | Devendra et al. (2020) |
| Mahidol | rs137852314 | p.G163S | Moderate | Southeast Asia, mostly Myanmar, Thailand and Burma (2–6%) | Matsuoka et al. (2004), Phompradit et al. (2011) |
Severe deficiency indicates < 10% residual enzyme activity while moderate deficiency refers to enzyme activities between 10 and 60%. MAF = minor allele frequency. For a detailed overview of the frequencies of the indicated alleles in different ethnogeographic groups, we refer to a recent population-scale analysis (Koromina et al. 2021)