Sequence variant in the laminin γ1 (LAMC1) gene associated with familial pelvic organ prolapse

Human Genetics

Volumn 120, Issue 6, 2007, Pages 847-856

  Nikolova, Ganka ^a   Lee, Hane ^a   Berkovitz, Suzanne ^a   Nelson, Stanley ^a   Sinsheimer, Janet ^a,b   Vilain, Eric ^a,b   Rodríguez, Larissa V ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; LAMININ GAMMA1; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NFIL3; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BINDING SITE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA MICROARRAY; FAMILIAL DISEASE; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE MAPPING; GENE SEQUENCE; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LINKAGE ANALYSIS; PELVIC ORGAN PROLAPSE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; TWINS;

BASE SEQUENCE; BASIC-LEUCINE ZIPPER TRANSCRIPTION FACTORS; BINDING SITES; CHROMOSOME MAPPING; COHORT STUDIES; DNA; DNA PRIMERS; FEMALE; GENE FREQUENCY; HUMANS; LAMININ; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); UTERINE PROLAPSE; VARIATION (GENETICS);

EID: 33846384326     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0267-1     Document Type: Article

References (62)

1. Bai SW, Jeon MJ, Kim JY, Chung KA, Kim SK, Park KH (2002) Relationship between stress urinary incontinence and pelvic organ prolapse. Int Urogynecol J Pelvic Floor Dysfunct 13:256-260
2. Birch C, Fynes MM (2002) The role of synthetic and biological prostheses in reconstructive pelvic floor surgery. Curr Opin Obstet Gynecol 14:527-535
3. Bonneau D, Huret JL, Godeau G, Couet D, Putterman M, Tanzer J, Babin P, Larregue M (1991) Recurrent ctb(7)(q31.3) and possible laminin involvement in a neonatal cutis laxa with a Marfan phenotype. Hum Genet 87:317-319
4. Buchsbaum GM, Chin M, Glantz C, Guzick D (2002) Prevalence of urinary incontinence and associated risk factors in a cohort of nuns. Obstet Gynecol 100:226-229
5. Buchsbaum GM, Duecy EE, Kerr LA, Huang LS, Guzick DS (2005) Urinary incontinence in nulliparous women and their parous sisters. Obstet Gynecol 106:1253-1258
6. Bump RC, Norton PA (1998) Epidemiology and natural history of pelvic floor dysfunction. Obstet Gynecol Clin North Am 25:723-746
7. Bump RC, Mattiasson A, Bo K, Brubaker LP, DeLancey JOL, Klarskov P, Shull BL, Smith AR (1996) The standardization of terminology of female pelvic organ prolapse and pelvic floor dysfunction. Am J Obstet Gynecol 175:10-17
8. Burgeson RE, Chiquet M, Deutzmann R, Ekblom P, Engel J, Kleinman H, Martin GR, Meneguzzi G, Paulsson M, Sanes J (1994) A new nomenclature for the laminins. Matrix Biol 14:209-211
9. Chen B, Wen Y, Zhang Z, Wang H, Warrington JA, Polan ML (2003) Menstrual phase-dependent gene expression differences in periurethral vaginal tissue from women with stress incontinence. Am J Obstet Gynecol 189:89-97
10. Chen B, Wen Y, Zhang Z, Guo Y, Warrington JA, Polan ML (2006) Microarray analysis of differentially expressed genes in vaginal tissues from women with stress urinary incontinence compared with asymptomatic women. Hum Reprod 21:22-29
11. Chiaffarino F, Chatenoud L, Dindelli M, Meschia M, Buonaguidi A, Amicarelli F, Surace M, Bertola E, Di Cintio E, Parazzini F (1999) Reproductive factors, family history, occupation and risk of urogenital prolapse. Eur J Obstet Gynecol Reprod Biol 82:63-67
12. Cowell IG (2002) E4BP4/NFIL3, a PAR-related bZIP factor with many roles. Bioessays 24:1023-1029
13. Cowell IG, Hurst HC (1994) Transcriptional repression by the human bZIP factor E4BP4: Definition of a minimal repression domain. Nucleic Acids Res 22:59-65
14. Damkier A, Brandrup F, Starklint H (1991) Cutis laxa: Autosomal dominant inheritance in five generations. Clin Genet 39:321-329
15. Database of Single Nucleotide Ploymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine. dbSNP accession: Rs10911193, (dbSNP Build ID: 36.1). Available from: http://www.ncbi.nlm.nih.gov/SNP
16. Deprest J, Zheng F, Konstantinovic M, Spelzini F, Claerhout F, Steensma A, Ozog Y, De Ridder D (2006) The biology behind fascial defects and the use of implants in pelvic organ prolapse repair. Int Urogynecol J Pelvic Floor Dysfunct Suppl 7:16-25
17. Dietz HP (2003) Do Asian women have less pelvic organ mobility than Caucasians? Int Urogynecol J Pelvic Floor Dysfunct 14:250-253
18. Engel J (1992) Laminins and other strange proteins. Biochemistry 31:10643-10651
19. Falconer C, Blomgren B, Johansson O, Ulmsten U, Malmstrom A, Westergren-Thorsson G, Ekman-Ordeberg G (1998) Different organization of collagen fibrils in stress-incontinent women of fertile age. Acta Obstet Gynecol Scand 77:87-94
20. Goepel C, Hefler L, Methfessel HD, Koelbl H (2003) Periurethral connective tissue status of postmenopausal women with genital prolapse with and without stress incontinence. Acta Obstet Gynecol Scand 82:659-664
21. Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tome FM, Schwartz K, Fardeau M, Tryggvason K, Guicheney P (1995) Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 11:216-218
22. Jack GS, Nikolova G, Vilain E, Raz S, Rodriguez LV (2005) Familial tranmission of genitovaginal prolapse. Int Urogynecol J Pelvic Floor Dysfunct 20:1-4
23. Jackson SR, Avery NC, Tarlton JF, Eckford SD, Abrams P, Bailey AJ (1996) Changes in metabolism of collagen in genitourinary prolapse. Lancet 347:1658-61
24. Kallunki P, Sainio K, Eddy R, Byers M, Kallunki T, Sariola H, Beck K, Hirvonen H, Shows TB, Tryggvason K (1992) A truncated laminin chain homologous to the B2 chain: Structure, spatial expression, and chromosomal assignment. J Cell Biol 119:679-693
25. Keane DP, Sims TJ, Abrams P, Bailey AJ (1997) Analysis of collagen status in premenopausal nulliparous women with genuine stress incontinence. Br J Obstet Gynaecol 104:994-998
26. Kim S, Harvey MA, Johnston S (2005) A review of the epidemiology and pathophysiology of pelvic floor dysfunction: Do racial differences matter? J Obstet Gynaecol Can 27:251-259
27. Kincade JE, Dougherty MC, Busby-Whitehead J, Carlson JR, Nix WB, Kelsey DT, Smith FC, Hunter GS, Rix AD (2005) Self-monitoring and pelvic floor muscle exercises to treat urinary incontinence. Urol Nurs 25:353-363
28. Kong A, Cox NJ (1997) Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 61:1179-1188
29. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 58:1347-1363
30. Labat-Robert J (2003) Age-dependent remodeling of connective tissue: role of fibronectin and laminin. Pathol Biol (Paris) 51:563-568
31. Lercher MJ, Urrutia AO, Hurst LD (2002) Clustering of housekeeping genes provides a unified model of gene order in the human genome. Nat Genet 31:180-183
32. Mant J, Painter R, Vessey M (1997) Epidemiology of genital prolapse: observations from the Oxford family planning association Study. Br J Obstet Gynaecol 104:579-85
33. Martin GR, Timpl R (1987) Laminin and other basement membrane components. Annu Rev Cell Biol 3:57-85
34. Muir TW, Stepp KJ, Barber MD (2003) Adoption of the pelvic organ prolapse quantification system in peer-reviewed literature. Am J Obstet Gynecol 189:1632-1635
35. Murray P, Edgar D (2000) Regulation of programmed cell death by basement membranes in embryonic development. J Cell Biol 150:1215-1221
36. Olsen AL, Smith VJ, Bergstrom JO, Colling JC, Clark AL (1997) Epidemiology of surgically managed pelvic organ prolapse and urinary incontinence. Obstet Gynecol 89:501-506
37. Pasetto N, Ticconi C, Zicari A, Pontieri G, Piccione E (1993) Interleukin-3 stimulates prostaglandin E2 release by human fetal membranes at term gestation. J Reprod Immunol 25:185-188
38. Pulkkinen L, Christiano AM, Gerecke D, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J (1994a) A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24:357-360
39. Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J (1994b) Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet 6:293-297
40. Quandt K, Frech K, Karas H, Wingender E, Werner T (1995) MatInd and MatInspector: New fast and versatile tools for detection of consensus matches in nucleotide sequence data. Nucleic Acids Res 23: 4878-4884
41. Rechberger T, Donica H, Baranowski W, Jakowicki J (1993) Female urinary stress incontinence in terms of connective tissue biochemistry. Eur J Obstet Gynecol Reprod Biol 49:187-191
42. Rinne KM, Kirkinen PP (1999) What predisposes young women to genital prolapse? Eur J Obstet Gynecol Reprod Biol 84:23-25
43. Rozen S, Skaletsky H (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132:365-386
44. Samuelsson EC, Victor FT, Tibblin G, Svardsudd KF (1999) Signs of genital prolapse in a Swedish population of women 20 to 59 years of age and possible related factors. Am J Obstet Gynecol 180:299-305
45. Shynlova OP, Oldenhof AD, Liu M, Langille L, Lye SJ (2002) Regulation of c-fos expression by static stretch in rat myometrial smooth muscle cells. Am J Obstet Gynecol 186:1358-1365
46. Sleep J, Grant A (1987) West Berkshire perineal management trial: Three year follow up. Br Med J (Clin Res Ed) 295:749-751
47. Sleep J, Grant A, Garcia J, Elbourne D, Spencer J, Chalmers I (1984) West Berkshire perineal management trial. Br Med J (Clin Res Ed) 289:587-590
48. Smeulders N, Woolf AS, Wilcox DT (2003) Extracellular matrix protein expression during mouse detrusor development. J Pediatr Surg 38:1-12
49. Smyth N, Vatansever HS, Meyer M, Frie C, Paulsson M, Edgar D (1998) The targeted deletion of the LAMC1 gene. Ann N Y Acad Sci 857:283-286
50. Smyth N, Vatansever HS, Murray P, Meyer M, Frie C, Paulsson M, Edgar D (1999) Absence of basement membranes after targeting the LAMC1 gene results in embryonic lethality due to failure of endoderm differentiation. J Cell Biol 144:151-160
51. Spofford CM, Chilian WM (2001) The elastin-laminin receptor functions as a mechanotransducer in vascular smooth muscle. Am J Physiol Heart Circ Physiol 280:H1354-H1360
52. Spofford CM, Chilian WM (2003) Mechanotransduction via the elastin-laminin receptor (ELR) in resistance arteries. J Biomech 36:645-652
53. Subak LL, Waetjen LE, van den Eeden S, Thom DH, Vittinghoff E, Brown JS (2001) Cost of pelvic organ prolapse surgery in the United States. Obstet Gynecol 98:646-561
54. Subak LL, Whitcomb E, Shen H, Saxton J, Vittinghoff E, Brown JS (2005) Weight loss: A novel and effective treatment for urinary incontinence. J Urol 174:190-195
55. Swift SE (2000) The distribution of pelvic organ support in a population of female subjects seen for routine gynecologic health care. Am J Obstet Gynecol 183:277-285
56. Swift S, Woodman P, O'Boyle A, Kahn M, Valley M, Bland D, Wang W, Schaffer J (2005) Pelvic organ support Study (POSST): The distribution, clinical definition, and epidemiologic condition of pelvic organ support defects. Am J Obstet Gynecol 192:795-806
57. Timpl R, Brown JC (1994) The laminins. Matrix Biol 14:275-281
58. Ulmsten U, Ekman G, Giertz G, Malmstrom A (1987) Different biochemical composition of connective tissue in continent and stress incontinent women. Acta Obstet Gynecol Scand 66:455-457
59. Vidal F, Baudoin C, Miquel C, Galliano MF, Christiano AM, Uitto J, Ortonne JP, Meneguzzi G (1995) Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa. Genomics 30:273-280
60. Visco AG, Yuan L (2003) Differential gene expression in pubococcygeus muscle from patients with pelvic organ prolapse. Am J Obstet Gynecol 189:102-112
61. Weber AM, Buchsbaum GM, Chen B, Clark AL, Damaser MS, Daneshgari F, Davis G, DeLancey J, Kenton K, Weidner AC, Word RA (2004) Basic science and translational research in female pelvic floor disorders: Proceedings of an NIH-sponsored meeting. Neurourol Urodyn 23:288-301
62. Willem M, Miosge N, Halfter W, Smyth N, Jannetti I, Burghart E, Timpl R, Mayer U (2002) Specific ablation of the nidogen-binding site in the laminin gamma1 chain interferes with kidney and lung development. Development 129:2711-222