rs708272
A SNP in the CETP gene on chromosome 16. Its most notable genotype is A;A: B2B2 genotype; some reduction in heart disease risk from moderate alcohol consumption
- Gene
- CETP
- Location
- Chr 1656,962,376 (GRCh38)
- Highest magnitude
- 2.2Worth knowing
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 38%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GNot ratedSmall reduction in coronary heart disease risk from alcohol consumption
- A;GNot ratedSmall reduction in heart disease risk from drinking alcohol
- A;AMost notableGoodB2B2 genotype; some reduction in heart disease risk from moderate alcohol consumption
SNPedia records rs708272 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 630 words
rs708272, also known as the TaqIB polymorphism of the CETP gene, may influence the levels of the "good" cholesterols, the high density lipoprotein (HDL) cholesterols. Generally, the B2 allele is considered to lead to higher HDL levels. However, high HDL cholesterol, at least when combined with another HDL raising SNP (rs1800588), doesn't appear to actually protect individuals from coronary artery disease, at least based on one study of ~800 Caucasian male patients. A similarly confusing picture emerges from a study of two populations of 10,000+ individuals each. The distribution of the CETP genotype was observed to be different in population-based studies compared with studies in populations selected by high cardiovascular risk, and contradictory results were seen when trying to figure out if the TaqIB SNP predicted whether drugs would lower plasma lipids or cardiovascular outcome. A meta-analysis concluded that there probably was a statistically significant, but weak, association for this SNP. For each rs708272(T) allele inherited, individuals had lower mean CETP mass (-9.7%; CI: -11.7% to -7.8%), lower mean CETP activity (-8.6%; CI: -13.0% to -4.1%), higher mean high-density lipoprotein cholesterol (HDL-C) concentrations (4.5%; CI: 3.8%-5.2%), and higher mean apolipoprotein A-I concentrations (2.4%; CI, 1.6%-3.2%). The combined per-allele odds ratios (ORs) for coronary disease were 0.95 (CI: 0.92-0.99). A prospective cohort study of 18,245 initially healthy American women over a 10-year period found similar results with respect to HDL-C levels and (inversely) risk of myocardial infarction; rs708272(T) was associated with a per-allele increase in HDL-C levels of 3.1 mg/dL and a concordant 24 percent lower risk of future myocardial infarction (age-adjusted HR 0.76, CI: 0.62-0.94). rs708272 has also been associated with reduced coronary heart disease risk in those drinking alcohol. More specifically, a 2014 study by Mehlig et al., ( studying 618 patients with CHD found that the B2B2 genotype, rs708272(T;T)), had a reduced risk (odds ratio 0.21) for CHD in intermediate vs low drinkers. Review: CETP & CAD Risk
G;G
This is the genotype known as B1B1, and as reported in the Mehlig et al. 2014 article, () from a risk for coronary heart disease perspective this genotype does not show the large decrease in risk (odds ratio 0.21) from consuming alcohol seen in B2B2 patients. Hoever, intermediate amounts (6.5 - 13g of ethanol per day for men) of alcohol consumption were still associated with a somewhat reduced odds ratio (0.80) for both B1B1 and B1B2 genotypes compared to those with low (under 6.5g/day) ethanol intake. Abstainers and those drinking high amounts (over 13.5g/day) had slightly higher CHD risks compared to low amount drinkers, with odds ratios of 1.12 and 1.03, respectively.
A;G
This is the genotype known as B1B2, and as reported in the Mehlig et al. 2014 article, () from a risk for coronary heart disease perspective this genotype does not show the large decrease in risk (odds ratio 0.21) from consuming alcohol seen in B2B2 patients. Hoever, intermediate amounts (6.5 - 13g of ethanol per day for men) of alcohol consumption were still associated with a somewhat reduced odds ratio (0.80) for both B1B1 and B1B2 genotypes compared to those with low (under 6.5g/day) ethanol intake.
A;A
In the 2014 publication by Mehlig et al., (), this B2B2 genotype showed the greatest reduction in coronary heart disease risk for those drinking moderate amounts of alcohol (6.5 - 13g/day for men; odds ratio 0.21) compared to those imbibing low (under 6.5g) amounts (designated as the reference, i.e. odds ratio of 1). The odds ratios for B2B2 genotypes either abstaining or drinking higher amounts (over 13.5g/day) were also lower, at 0.76 and 0.48, respectively.
References
Source and license
Adapted from rs708272 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.