Interleukin-23 receptor polymorphisms are associated with Alzheimer's disease in Han Chinese

• Inhibition of IL-23 signaling was reported to reduce the AD pathology.
• Two tag functional IL23R polymorphisms were genotyped in 2289 Northern Han Chinese.
• rs10889677 was significantly associated with decreased AD risk.
• rs1884444 polymorphism increased the risk of AD in APOE ɛ4 carriers.
• IL23R genetic polymorphisms are associated with AD in Han Chinese.

Inhibition of interleukin-23 (IL-23) signaling was reported to reduce AD pathology, and IL-23 receptor gene (IL23R) which encodes IL-23 receptor may represent a candidate susceptibility gene for AD. Here, we conducted a case–control association study to assess the effect of IL23R genetic polymorphisms on the risk of AD in a Northern Han Chinese population. Two tag functional single polymorphisms (SNPs), rs10889677 and rs1884444 were selected, and their associations with AD risk factors were assessed in 1133 AD patients and 1156 matched controls. Our association analysis showed that C allele of rs10889677 was significantly associated with decreased AD risk even after adjusting for age, gender, and apolipoprotein E gene (APOE) ɛ4 status. The G allele of rs1884444 polymorphism is significantly associated with a higher risk of AD in APOE ɛ4 carriers. Our results demonstrate that IL23R genetic polymorphisms are associated with AD in a Northern Han Chinese population.