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Total cholesterol levels

HNF1A · rs2244608

Where this position leads

Condition: Cholesterol (LDL, HDL and Total)

What the study found

Who was studied 32,576 East Asian ancestry individuals, 187,365 European ancestry individuals; replicated in 10,855 Chinese ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0313 lower (95% confidence interval 0.024-0.039); p = 4 × 10⁻¹⁹.

How common The A allele had a frequency of about 66% in the people studied.

Where it sits Chromosome 12, band 12q24.31 — in an intron of HNF1A.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Total cholesterol levels compared to the general population.

A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Total cholesterol levels.

G/G Published research associates this genotype with typical/baseline likelihood of Total cholesterol levels — no copies of the reported risk allele.

Source

Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels

Spracklen CN, Chen P, Kim YJ, Wang X, Cai H, Li S, Long J, Wu Y, Wang YX, Takeuchi F, Wu JY, Jung KJ

and 103 more — show all

Hu C, Akiyama K, Zhang Y, Moon S, Johnson TA, Li H, Dorajoo R, He M, Cannon ME, Roman TS, Salfati E, Lin KH, Guo X, Sheu WHH, Absher D, Adair LS, Assimes TL, Aung T, Cai Q, Chang LC, Chen CH, Chien LH, Chuang LM, Chuang SC, Du S, Fan Q, Fann CSJ, Feranil AB, Friedlander Y, Gordon-Larsen P, Gu D, Gui L, Guo Z, Heng CK, Hixson J, Hou X, Hsiung CA, Hu Y, Hwang MY, Hwu CM, Isono M, Juang JJ, Khor CC, Kim YK, Koh WP, Kubo M, Lee IT, Lee SJ, Lee WJ, Liang KW, Lim B, Lim SH, Liu J, Nabika T, Pan WH, Peng H, Quertermous T, Sabanayagam C, Sandow K, Shi J, Sun L, Tan PC, Tan SP, Taylor KD, Teo YY, Toh SA, Tsunoda T, van Dam RM, Wang A, Wang F, Wang J, Wei WB, Xiang YB, Yao J, Yuan JM, Zhang R, Zhao W, Chen YI, Rich SS, Rotter JI, Wang TD, Wu T, Lin X, Han BG, Tanaka T, Cho YS, Katsuya T, Jia W, Jee SH, Chen YT, Kato N, Jonas JB, Cheng CY, Shu XO, He J, Zheng W, Zheng W, Wong TY, Huang W, Kim BJ, Tai ES, Mohlke KL, Sim X

Human molecular genetics · 2017 · PMID 28334899

Questions about rs2244608

What is rs2244608?

rs2244608 is a single position in the genome, in or near the HNF1A gene. Published research associates it with total cholesterol levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2244608 linked to?

On MyGeneLog this position is linked to Cholesterol (LDL, HDL and Total). The research behind each link, and its sources, are set out on that condition page.

Does having rs2244608 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs2244608 come from?

GWAS Catalog, Hum Mol Genet 2017, PMID:28334899. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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