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( Petr Dite ),( Jan Trna ),( Zdenek Kinkor ),( Ivo Novotny ),( Jan Lata ),( Bohuslav Kianioka ),( Marketa Hermanova ) The Editorial Office of Gut and Liver 2013 Gut and Liver Vol.7 No.5
Autoimmune pancreatitis (AIP) type 1 is commonly associ-ated with simultaneous involvement of extrapancreatic organs. Sclerosing cholangitis, sialadenitis, retroperitoneal fibrosis, Sjogren syndrome, and other extrapancreatic lesions are often observed concurrently with AIP. High levels of im-munoglobulin G4 (IgG4) in the blood serum and affected tis-sues are typical of this diagnostic entity. We describe a case report of a 58-year-old female with findings of AIP (according to Asian criteria), IgG4-positive mastitis, and histologically verified Mikulicz syndrome. The effect of corticoid therapy supported the diagnosis of AIP and simultaneously led to the eradication of recurrent mastitis. To the best of our knowl-edge, this is the first reported case of concurrent findings of AIP and IgG4 mastitis. Our case report supports the concept of systemic IgG4 syndrome with multisystem involvement. Timely diagnosis and appropriate therapy can be effective in a high percentage of patients. (Gut Liver 2013;7:621-624)
11q13 is a susceptibility locus for hormone receptor positive breast cancer
Lambrechts, Diether,Truong, Therese,Justenhoven, Christina,Humphreys, Manjeet K.,Wang, Jean,Hopper, John L.,Dite, Gillian S.,Apicella, Carmel,Southey, Melissa C.,Schmidt, Marjanka K.,Broeks, Annegien Wiley (John WileySons) 2012 Human mutation Vol.33 No.7
Johnson, Nichola,Dudbridge, Frank,Orr, Nick,Gibson, Lorna,Jones, Michael E,Schoemaker, Minouk J,Folkerd, Elizabeth J,Haynes, Ben P,Hopper, John L,Southey, Melissa C,Dite, Gillian S,Apicella, Carmel,Sc BioMed Central 2014 Breast cancer research Vol.16 No.3
<P><B>Introduction</B></P><P>We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the <I>CYP3A</I> locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years.</P><P><B>Methods</B></P><P>We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at menarche or tumor characteristics.</P><P><B>Results</B></P><P>We confirmed the association of rs10235235 with breast cancer risk for women of European ancestry but found no evidence that this association differed with age at diagnosis. Heterozygote and homozygote odds ratios (ORs) were OR = 0.98 (95% CI 0.94, 1.01; <I>P</I> = 0.2) and OR = 0.80 (95% CI 0.69, 0.93; <I>P</I> = 0.004), respectively (<I>P</I><SUB>trend</SUB> = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (<I>P</I><SUB>trend</SUB> = 0.005) but not cases (<I>P</I><SUB>trend</SUB> = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (<I>P</I><SUB>het</SUB> = 0.02); the rare allele of rs10235235 was associated with a reduction in breast cancer risk for women who had their menarche age ≥15 years (OR<SUB>het</SUB> = 0.84, 95% CI 0.75, 0.94; OR<SUB>hom</SUB> = 0.81, 95% CI 0.51, 1.30; <I>P</I><SUB>trend</SUB> = 0.002) but not for those who had their menarche age ≤11 years (OR<SUB>het</SUB> = 1.06, 95% CI 0.95, 1.19, OR<SUB>hom</SUB> = 1.07, 95% CI 0.67, 1.72; <I>P</I><SUB>trend</SUB> = 0.29).</P><P><B>Conclusions</B></P><P>To our knowledge rs10235235 is the first single nucleotide polymorphism to be associated with both breast cancer risk and age at menarche consistent with the well-documented association between later age at menarche and a reduction in breast cancer risk. These associations are likely mediated via an effect on circulating hormone levels.</P>
Genome-wide average DNA methylation is determined <i>in utero</i>
Li, Shuai,Wong, Ee Ming,Dugué,, Pierre-Antoine,McRae, Allan F,Kim, Eunae,Joo, Ji-Hoon Eric,Nguyen, Tuong L,Stone, Jennifer,Dite, Gillian S,Armstrong, Nicola J,Mather, Karen A,Thalamuthu, Anbupal Oxford University Press 2018 International journal of epidemiology Vol.47 No.3
<P><B>Abstract</B></P><P><B>Background</B></P><P>Investigating the genetic and environmental causes of variation in genome-wide average DNA methylation (GWAM), a global methylation measure from the HumanMethylation450 array, might give a better understanding of genetic and environmental influences on methylation.</P><P><B>Methods</B></P><P>We measured GWAM for 2299 individuals aged 0 to 90 years from seven twin and/or family studies. We estimated familial correlations, modelled correlations with cohabitation history and fitted variance components models for GWAM.</P><P><B>Results</B></P><P>The correlation in GWAM for twin pairs was ∼0.8 at birth, decreased with age during adolescence and was constant at ∼0.4 throughout adulthood, with no evidence that twin pair correlations differed by zygosity. Non-twin first-degree relatives were correlated, from 0.17 [95% confidence interval (CI): 0.05–0.30] to 0.28 (95% CI: 0.08–0.48), except for middle-aged siblings (0.01, 95% CI: −0.10–0.12), and the correlation increased with time living together and decreased with time living apart. Spouse pairs were correlated in all studies, from 0.23 (95% CI: 0.3–0.43) to 0.31 (95% CI: 0.05–0.52), and the correlation increased with time living together. The variance explained by environmental factors shared by twins alone was 90% (95% CI: 74–95%) at birth, decreased in early life and plateaued at 28% (95% CI: 17–39%) in middle age and beyond. There was a cohabitation-related environmental component of variance.</P><P><B>Conclusions</B></P><P>GWAM is determined <I>in utero</I> by prenatal environmental factors, the effects of which persist throughout life. The variation of GWAM is also influenced by environmental factors shared by family members, as well as by individual-specific environmental factors.</P>