دورية أكاديمية
أعرض في EDS

Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele.

التفاصيل البيبلوغرافية
العنوان: Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele.
المؤلفون: Hodge JC; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA. hodge.jennelle@mayo.edu, T Cuenco K, Huyck KL, Somasundaram P, Panhuysen CI, Stewart EA, Morton CC
المصدر: Human genetics [Hum Genet] 2009 Apr; Vol. 125 (3), pp. 257-63. Date of Electronic Publication: 2009 Jan 09.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
أسماء مطبوعة: Publication: Berlin : Springer Verlag
Original Publication: Berlin, New York, Springer-Verlag.
مواضيع طبية MeSH: Genetic Predisposition to Disease*, HMGA2 Protein/*genetics , Leiomyoma/*genetics , Uterine Neoplasms/*genetics, 5' Untranslated Regions ; Alleles ; Body Height/genetics ; Dinucleotide Repeats ; Female ; Gene Frequency ; Humans ; Polymorphism, Single Nucleotide ; Siblings
مستخلص: Uterine leiomyomata (UL) are the most common female pelvic tumors and the primary indication for hysterectomy in the United States. We assessed genetic liability for UL by a known embryonic proliferation modulator, HMGA2, in 248 families ascertained through medical record-confirmed affected sister-pairs. Using a (TC)( n ) repeat in the 5' UTR and 17 SNPs spanning HMGA2, permutation-based association tests identified a significant increase in transmission of a single TC repeat allele (TC227) with UL (allele-specific P = 0.00005, multiple testing corrected min-P = 0.0049). The hypothesis that TC227 is a pathogenic variant is supported by a trend towards higher HMGA2 expression in TC227 allele-positive compared with non-TC227 UL tissue as well as by absence of culpable exonic sequence variants. HMGA2 has also been suggested recently by three genome-wide SNP studies to influence human height variation, and our examination of the affected sister-pair families revealed a significant association of TC227 with decreased height (allele-specific P = 0.00033, multiple testing corrected min-P = 0.016). Diminished stature and elevated risk of UL development have both been correlated with an earlier age of menarche, which may be the biological mechanism for TC227 effects as a tendency of women with TC227 to have an earlier onset of menarche was identified in our study population. These results indicate HMGA2 has a role in two growth-related phenotypes, UL predisposition and height, of which the former may affect future medical management decisions for many women.
References: Obstet Gynecol. 2006 Apr;107(4):917-21. (PMID: 16582132)
Hum Genet. 1997 Jan;99(1):103-5. (PMID: 9003504)
Proc Natl Acad Sci U S A. 2001 Mar 13;98(6):3387-92. (PMID: 11248088)
MMWR CDC Surveill Summ. 1997 Aug 8;46(4):1-15. (PMID: 9259214)
Hum Hered. 1997 Nov-Dec;47(6):342-50. (PMID: 9391826)
Fertil Steril. 1981 Oct;36(4):433-45. (PMID: 7026295)
Am J Obstet Gynecol. 2008 Feb;198(2):168.e1-9. (PMID: 18226615)
Cancer Res. 2004 Aug 15;64(16):5570-7. (PMID: 15313893)
Genes Dev. 2007 May 1;21(9):1025-30. (PMID: 17437991)
Am J Pathol. 1999 Nov;155(5):1535-42. (PMID: 10550310)
Am J Hum Genet. 2000 Jan;66(1):187-95. (PMID: 10631150)
J Med Genet. 1999 Apr;36(4):295-9. (PMID: 10227396)
Fertil Steril. 1998 Sep;70(3):432-9. (PMID: 9757871)
Acta Derm Venereol. 1973;53(5):409-16. (PMID: 4127477)
Genes Chromosomes Cancer. 2003 Sep;38(1):68-79. (PMID: 12874787)
Bioinformatics. 2000 Feb;16(2):182-3. (PMID: 10842743)
Biochem Biophys Res Commun. 1998 Jul 20;248(2):402-5. (PMID: 9675149)
Nat Genet. 2008 Feb;40(2):198-203. (PMID: 18193045)
Oncogene. 2003 Feb 6;22(5):756-60. (PMID: 12569368)
Obstet Gynecol. 2006 Oct;108(4):930-7. (PMID: 17012456)
Nat Genet. 2007 Oct;39(10):1245-50. (PMID: 17767157)
PLoS Genet. 2007 Jun;3(6):e97. (PMID: 17559308)
Am J Obstet Gynecol. 1992 Jul;167(1):82-8. (PMID: 1442963)
Hum Hered. 2000 Jul-Aug;50(4):211-23. (PMID: 10782012)
Genes Chromosomes Cancer. 1999 Aug;25(4):316-22. (PMID: 10398424)
Hum Mol Genet. 2001 Dec 15;10(26):3101-9. (PMID: 11751692)
FEBS Lett. 1999 Jul 16;455(1-2):70-4. (PMID: 10428474)
Nature. 1995 Aug 31;376(6543):771-4. (PMID: 7651535)
Nat Genet. 2008 May;40(5):584-91. (PMID: 18391950)
Am J Clin Pathol. 1990 Oct;94(4):435-8. (PMID: 2220671)
Genetika. 1989 Oct;25(10):1896-8. (PMID: 2620816)
J Clin Endocrinol Metab. 1998 Jun;83(6):1875-80. (PMID: 9626112)
Genes Chromosomes Cancer. 1998 Dec;23(4):350-7. (PMID: 9824208)
Maturitas. 2000 Nov 30;37(1):15-26. (PMID: 11099869)
Am J Epidemiol. 2005 Oct 1;162(7):623-32. (PMID: 16107566)
Nat Genet. 2008 May;40(5):609-15. (PMID: 18391951)
Am J Obstet Gynecol. 2006 Oct;195(4):955-64. (PMID: 16723104)
Obstet Gynecol. 1991 Jun;77(6):923-6. (PMID: 2030869)
معلومات مُعتمدة: R01 HD046226-01 United States HD NICHD NIH HHS; R01 CA078895-07 United States CA NCI NIH HHS; R01 HD046226-05 United States HD NICHD NIH HHS; R01 HD046226-02 United States HD NICHD NIH HHS; United States HHMI Howard Hughes Medical Institute; T32 GM007748-31 United States GM NIGMS NIH HHS; R01HD046226 United States HD NICHD NIH HHS; R01 CA078895-08 United States CA NCI NIH HHS; T32 GM007748-29 United States GM NIGMS NIH HHS; R01 CA078895 United States CA NCI NIH HHS; R01 CA078895-10 United States CA NCI NIH HHS; T32 GM007748-28 United States GM NIGMS NIH HHS; R01 HD046226-04 United States HD NICHD NIH HHS; T32 GM007748-27 United States GM NIGMS NIH HHS; T32 GM007748 United States GM NIGMS NIH HHS; R01 HD046226-03 United States HD NICHD NIH HHS; R01 HD046226 United States HD NICHD NIH HHS; R01 CA078895-09 United States CA NCI NIH HHS; R01 HD060530 United States HD NICHD NIH HHS; R01CA78895 United States CA NCI NIH HHS; T32GM007748 United States GM NIGMS NIH HHS
المشرفين على المادة: 0 (5' Untranslated Regions)
0 (HMGA2 Protein)
تواريخ الأحداث: Date Created: 20090110 Date Completed: 20090414 Latest Revision: 20211020
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC2839499
DOI: 10.1007/s00439-008-0621-6
PMID: 19132395
قاعدة البيانات: MEDLINE
الوصف
تدمد:1432-1203
DOI:10.1007/s00439-008-0621-6