rs4399848

SNP rs4399848 (Chr 3 at 28.679467 Mb, band 3p24.1, dbSNP build 128) is associated weakly with hypertension in a genome-wide association study by the Wellcome Trust Case Control Consortium published in Nature (2007, appendix Table 7, page 40) . The so-called single point P is less than 0.0004 (4.44E-04). This statistic is relatively uninformative without follow-up study and a larger sample size. The (G;G) genotype is ancestral and has a frequency close to 100% in the Yourba population (Ibadan, Nigeria) and approximately 96-98% in Han Chinese. The (A;G) heterozygote has a frequency of up to about 25% in some European populations (Perlegen and HapMap). The (A;A) minor genotype is rare. The presumed effects of the A allele on risk of hypertension are likely to be very low and are still controversial. (No direct evidence or effect size is listed in the publication.) This SNP is located in a highly conserved intergenic region in humans and other mammals. The high conservation score suggests that the region has functional relevance, but the SNP is not associated with a standard gene or protein. The SNP could be in or near an enhancer element. The SNP is downstream of the 3' UTR of the ZCWPW2 gene by approximately 100 kB and 600 kB upstream of the promoter of the RBMS3 gene. The equivalent region in mouse is on mouse chromosome 9 at about 117.693 Mb. The equivalent region in rat is on rat chromosome 8 at about 122.7 Mb.