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Systemic sclerosis complicated with interstitial lung disease

HLA-DPB1 · rs2021408

Where this position leads

Condition: Systemic Sclerosis

rs2021408 Condition: Systemic Sclerosis Systemic Sclerosis Condition rs2021408 rs2021408 HLA-DPB1

What the study found

Who was studied 625 Japanese ancestry cases, 112,599 Japanese ancestry controls.

The effect Each copy of the C allele carried 2.68 times the odds of Systemic sclerosis complicated with interstitial lung disease (95% confidence interval 2.38597-3.0073); p = 2 × 10−62.

How common The C allele had a frequency of about 18% in the people studied.

Where it sits Chromosome 6, band 6p21.32 — in an intron of HLA-DPB1.

What each result means

C/C Two copies of the version the research linked to Systemic sclerosis complicated with interstitial lung disease. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Systemic sclerosis complicated with interstitial lung disease. That is a smaller link than two copies.
T/T No copy of the version the research linked to Systemic sclerosis complicated with interstitial lung disease. This is the starting point the study compared everyone against.
Source
GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region
Ishikawa Y, Tanaka N, Asano Y, Kodera M, Shirai Y, Akahoshi M, Hasegawa M, Matsushita T, Saito K, Motegi SI, Yoshifuji H, Yoshizaki A
and 60 more — show all
Kohmoto T, Takagi K, Oka A, Kanda M, Tanaka Y, Ito Y, Nakano K, Kasamatsu H, Utsunomiya A, Sekiguchi A, Niiro H, Jinnin M, Makino K, Makino T, Ihn H, Yamamoto M, Suzuki C, Takahashi H, Nishida E, Morita A, Yamamoto T, Fujimoto M, Kondo Y, Goto D, Sumida T, Ayuzawa N, Yanagida H, Horita T, Atsumi T, Endo H, Shima Y, Kumanogoh A, Hirata J, Otomo N, Suetsugu H, Koike Y, Tomizuka K, Yoshino S, Liu X, Ito S, Hikino K, Suzuki A, Momozawa Y, Ikegawa S, Tanaka Y, Ishikawa O, Takehara K, Torii T, Sato S, Okada Y, Mimori T, Matsuda F, Matsuda K, Amariuta T, Imoto I, Matsuo K, Kuwana M, Kawaguchi Y, Ohmura K, Terao C
Nature communications · 2024 · PMID 38296975 · open access

Questions about rs2021408

What is rs2021408?

rs2021408 is a single position in the genome, in or near the HLA-DPB1 gene. Published research associates it with systemic sclerosis complicated with interstitial lung disease. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2021408 linked to?

On MyGeneLog this position is linked to Systemic Sclerosis. The research behind each link, and its sources, are set out on that condition page.

Does having rs2021408 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 rs2021408 come from?

GWAS Catalog, Nature communications 2024, PMID:38296975. 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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Systemic sclerosis complicated with interstitial lung disease (rs2021408). MyGeneLog™. https://www.mygenelog.com/variants/rs2021408

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