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Hypersomnia (HLA-DQB1*06:02 negative)

CRAT · rs10988217

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 119 Japanese ancestry cases, 1,582 Japanese ancestry controls; replicated in 283 Japanese ancestry cases, 433 Japanese ancestry controls.

The effect Each copy of the G allele carried 2.63 times the odds of Hypersomnia (HLA-DQB1*06:02 negative) (95% confidence interval 1.88-3.69); p = 8 × 10−9.

How common The G allele had a frequency of about 24% in the people studied.

Where it sits Chromosome 9, band 9q34.11 — in an intron of PTPA.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Hypersomnia (HLA-DQB1*06:02 negative) — no copies of the reported risk allele.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Hypersomnia (HLA-DQB1*06:02 negative).
G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Hypersomnia (HLA-DQB1*06:02 negative) compared to the general population.
Source
A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia
Miyagawa T, Khor SS, Toyoda H, Kanbayashi T, Imanishi A, Sagawa Y, Kotorii N, Kotorii T, Ariyoshi Y, Hashizume Y, Ogi K, Hiejima H
and 46 more — show all
Kamei Y, Hida A, Miyamoto M, Ikegami A, Wada Y, Takami M, Higashiyama Y, Miyake R, Kondo H, Fujimura Y, Tamura Y, Taniyama Y, Omata N, Tanaka Y, Moriya S, Furuya H, Kato M, Kawamura Y, Otowa T, Miyashita A, Kojima H, Saji H, Shimada M, Yamasaki M, Kobayashi T, Misawa R, Shigematsu Y, Kuwano R, Sasaki T, Ishigooka J, Wada Y, Tsuruta K, Chiba S, Tanaka F, Yamada N, Okawa M, Kuroda K, Kume K, Hirata K, Uchimura N, Shimizu T, Inoue Y, Honda Y, Mishima K, Honda M, Tokunaga K
Journal of human genetics · 2018 · PMID 30266950

Questions about rs10988217

What is rs10988217?

rs10988217 is a single position in the genome, in or near the CRAT gene. Published research associates it with hypersomnia (hla-dqb1*06:02 negative). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs10988217 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 rs10988217 come from?

GWAS Catalog, J Hum Genet 2018, PMID:30266950. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Hypersomnia (HLA-DQB1*06:02 negative) (rs10988217). MyGeneLog™. https://www.mygenelog.com/variants/rs10988217

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