PMID- 21922295 OWN - NLM STAT- MEDLINE DCOM- 20120821 LR - 20221207 IS - 1573-4927 (Electronic) IS - 0006-2928 (Linking) VI - 50 IP - 1-2 DP - 2012 Feb TI - Hardy-Weinberg disequilibrium of the IL-18 C-607A SNP suggesting selective advantage of heterozygotes. PG - 63-72 LID - 10.1007/s10528-011-9459-z [doi] AB - Interleukin-18 (IL-18) plays a key role in autoimmune, inflammatory, and infectious diseases. The IL-18 gene contains a C to A single nucleotide polymorphism (SNP) at position -607 (C-607A) within the promoter region, which was found to affect the promoter activity and subsequently the protein level of IL-18. We investigated this SNP in a group of healthy Singaporeans and found that CA was the most common genotype and the C allele was more prevalent than the A allele, which was not always the case in other ethnic groups. In addition, Singaporean Chinese were significantly different from Singaporean Indians in both allelic and genotypic distributions. Furthermore, significant deviations from Hardy-Weinberg equilibrium of this SNP were found in all three ethnic groups studied (Chinese, Indians, and Malays) and also in other published literature, suggesting that heterozygotes of this IL-18 C-607A SNP may have certain selective advantages. FAU - Chen, Chuan Fei AU - Chen CF AD - Natural Sciences and Science Education, National Institute of Education, Nanyang Technological University, 1 Nanyang Walk, Singapore, 637616, Singapore. FAU - Gan, Yik Yuen AU - Gan YY LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20110916 PL - United States TA - Biochem Genet JT - Biochemical genetics JID - 0126611 RN - 0 (Interleukin-18) SB - IM MH - Asian People/genetics MH - Ethnicity/*genetics MH - *Heterozygote MH - Humans MH - Interleukin-18/*genetics MH - Models, Genetic MH - *Polymorphism, Single Nucleotide MH - Singapore/ethnology EDAT- 2011/09/17 06:00 MHDA- 2012/08/22 06:00 CRDT- 2011/09/17 06:00 PHST- 2010/05/22 00:00 [received] PHST- 2011/05/25 00:00 [accepted] PHST- 2011/09/17 06:00 [entrez] PHST- 2011/09/17 06:00 [pubmed] PHST- 2012/08/22 06:00 [medline] AID - 10.1007/s10528-011-9459-z [doi] PST - ppublish SO - Biochem Genet. 2012 Feb;50(1-2):63-72. doi: 10.1007/s10528-011-9459-z. Epub 2011 Sep 16.