Enfermedad Celiaca
Vamos a ir decodificando los genes de riesgo: (Ire actualizando el post segun vaya investigando)
HLA genes: (Human Leukocite Antigen)
HLA-DQ2: HLA-DQA1*05-DQB1*02
HLA-DQ8: HLA-DQA1*03-DQB1*0302 – rs7454108 el riesgo en C yo soy T;T
HLA-DQ2.5: rs2187668 el riesgo esta en T, yo soy (C;C)
HLA-DQ2.2: Combinacion de rs2395182 (T es el riesgo, yo soy T;T), rs7775228 (El riesgo en C, yo soy T;T) y rs4713586 No testeado
Of all the risky HLA-DQ subtypes, HLA-DQ2.5, is most often associated with Celiac Disease. Fuente: http://www.jbiomedsci.com/content/19/1/88
23andme flags DQ[2.5]. Eighty-five percent of celiac cases in the US are DQ[2.5]. You could also have DQ[7.5] or D[8] and end up with celiac disease. A very, very small percentage have DQ[2.2].
no-HLA genes:
4q27 () – Yo soy (G;T)
Showed the strongest association with celiac disease.
A further Dutch study suggested association of with type 1 diabetes and rheumatoid arthritis, in the same direction as the celiac disease data13. These findings suggest the 4q27 region might represent a more general autoimmune locus, although whether effects are due to one or multiple causal variants and the exact nature of these effects is currently unclear.
1q31 () – Yo soy (A;A)
The most significant SNP outside the HLA
2q11 – 2q12 ( y ) – Yo soy (C;C y T;T)
3p21 () Yo soy (T;T)
3q25 – 3q26 ( y ) – Yo soy (A;A y C;T)
3q28 () – Yo soy (A;C)
6q25 () – Yo soy (C;C)
12q24 ( y ) – Yo soy (C;C y T;T)
These seven new regions, together with IL2/IL21 explain ∼3-4% of the heritability of celiac disease. These estimates are based on the current markers and may be higher once the causal variants from each region are known. Consideration of the current findings, together with the strong risk attributed by the HLA-DQ2 and -DQ8 locus (in this study estimated to be ∼35%),
Fuentes: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2673512/
Comentarios interesantes que he encontrado por los foros… (Curiosamente yo tengo rs2187668 C;C y el rs3184504 T;T)
Un comentario interesante:
Take care interpreting rs2187668 , it is only proxy of DQ2.5. I am CC yet DQ2.5cis heretozygous – confirmed in two independend labs using direct testing methods.In my case SNP reported here will be misleading and make you believe you don’t have the 2.5 risk type, when you do.