Table 1.
Study | Journal and year | Country | Descent, ethnicity, racea | Gene symbols(s) | Polymorphism(s) dbSNP ID | Case definition | Control definition | Cases genotyped, n | Controls genotyped, n |
---|---|---|---|---|---|---|---|---|---|
Allen-Brady et al76 | Obstet Gynecol 2011 | United States, The Netherlands | White and Northern European descent |
LINC0108b ZFAT Intergenic Intergenic Intergenic COL18A1 |
rs1455311 rs1036819 rs430794 rs8027714 rs1810636 rs2236479 |
Surgically treated/recurrent POP with family history | Population controls | 191 | 3036 |
Campeau et al59 | Neurourol Urodyn 2011 (ICS abstract) | United States | Not stated | MMP1 | rs1144393 rs498186 rs473509 |
Surgically treated POP | Hospital controls “without POP” | 63 | 93 |
Chen et al55 | Am J Obstet Gynecol 2010 | United States | African American and Caucasian | LAMC1 | rs10911193 rs20563 rs20558 |
POP stage >II | POP stage <II | 165 | 246 |
Chen et al66 | Int Urogynecol J 2008 | Taiwan | Taiwanese | ESR1 | rs17847075 rs2207647 rs2234693 rs3798577 rs2228480 |
POPQ ≥2 | POPQ <2 | 88 | 153 |
Chen et al68 | Acta Obstet Gynecol 2009 | Taiwan | Taiwanese | PGR | rs500760 rs484389 |
POPQ ≥2 | POPQ <2 | 87 | 150 |
Chen et al78 | Am Soc Hum Genet 2013 | United States | African American and Hispanic American | PRCPb | rs2086297 | Symptomatic SUI | No SUI | ≈3343 | ≈8183 |
Chen et al66 | Int Urogynecol J 2008 | Taiwan | Taiwanese | COL3A1 | rs1800255 rs1801184 |
POPQ ≥2 | POPQ <2 | 84 | 147 |
Chen et al64 | Eur J Obstet Gynecol 2010 | Taiwan | Taiwanese | MMP9 | rs3918242 rs17576 rs2250889 |
POPQ ≥2 | POPQ <2 | 92 | 152 |
Chen et al67 | Eur J Obstet Gynecol 2008 | Taiwan | Taiwanese | ESR2 | rs2987983 rs1271572 rs944459 rs1256049 rs1255998 |
POPQ ≥2 | POPQ <2 | 69 | 141 |
Cho et al45 | Yonsei Med J 2009 | Korea | Korean | COL1A1 | rs1800012 | Surgically treated POPQ ≥3 | POPQ = 0 | 15 | 15 |
Choy et al69 | ICS abstract 2007 | Hong Kong | Chinese | EDN1 | rs5370 rs10478694 |
POPQ ≥2 | Hospital “normal’’ controls and HapMap Han Chinese controls | 60 (rs5370) and 67 (rs10478694) | 210 |
Cornu et al70 | World J Urol 2011 | France | Caucasian |
ESR1 CYP17A1 CYP19A1 AR |
rs2234693 rs743572 rs60271534 CAG repeat |
Treated for UI (30 UUI, 107 SUI) | No UI or OAB | 121 | 66 |
Feiner et al42 | Int Urogynecol J 2009 | Israel | Caucasian or Ashkenazi-Jewish | COL1a1 | rs1800012 | POPQ ≥3 | POPQ <2 | 36 | 36 |
Ferrari et al44 | Arch Gynecol Obstet 2012 | Italy | Italian |
COL1a1 MMP9 MMP1 MMP3 |
rs1800012 rs3918242 rs1799750 rs3025058 |
POPQ ≥2 | POPQ <2 | 137 | 96 |
Ferreira et al38 | Am J Obstet Gynecol 2011 | Brazil | White or nonwhite | ADRB3 | rs4994 | Symptomatic OAB without severe SUI | No LUTS | 49 | 169 |
Ferrell et al75 | Reprod Sci 2009 | United States | African American or Caucasian | LOXL1 | rs16958477 | POP stage ≥II | POP stage <II | 137 | 130 |
Fu et al56 | J Urol 2009 (AUA abstract) | United States | Not stated |
LAMC1 LOXL1 |
rs10911193 | POP stage ≥III | No POP or UI | 61 | 33 |
Honda et al37 | Neurourol Urodyn 2014 | Japan | Japanese | ADRb3 | rs4994 | Symptomatic OAB | No OAB | 100 | 101 |
Jeon et al51 | J Urol 2009 | Korea | Korean | COL3a1 | rs111929073 | POPQ ≥2 | POPQ <2 and no SUI | 36 | 36 |
Kim et al74 | Eur J Obstet Gynecol Reprod Biol 2014 | Korea | Korean |
GSTM1 GSTT1 GSTP1 |
Null Null rs1695 |
POPQ ≥3 | POPQ <2 | 189 | 156 |
Kim et al73 | Menopause 2014 | Korea | Korean | PARP1 | rs1136410 | POPQ ≥3 | POPQ <2 | 185 | 155 |
Lince et al50 | Int Urogynecol J 2014 | The Netherlands | ≈99% Dutch | COL3a1 | rs1800255 | POPQ ≥2 | POPQ <2 | 272 | 82 |
Martins et al52 | Neurourol Urodyn 2011 | Brazil | White or nonwhite | COL3a1 | rs111929073 | POP stage ≥III | POP stage <II | 107 | 209 |
Noronha et al71 | J Investig Med 2010 | Brazil | Predominant European/white | HTR2A | rs6313 | Symptomatic UI | Self-reported continent women, and population controls | 68 | 849 |
Ozbek et al72 | J Obstet Gynaecol Res 2013 | Turkey | Caucasian | LOXL1 | rs2165241 rs3825942 rs1048661 |
Symptomatic SUI | No UI | 93 | 75 |
Rodrigues et al41 | Int Urogynecol J 2008 | Brazil | White or nonwhite | COL1a1 | rs1800012 | POP stage ≥III | POP stage <II and no SUI | 107 | 209 |
Romero and Jamison65 | J Pelv Med Surg 2008 | United States | White |
MMP1 MMP2 MMP3 MMP8 MMP9 MMP10 MMP11 TIMP1 TIMP3 |
rs2071230 rs7201 rs679620 rs35866072 rs17576 rs17435959 rs738789 rs4898 rs2016293 |
POPQ ≥3 | POPQ <2 and no UI | 45 | 38 |
Sioutis et al47 | Int Urogynecol J 2011 | Greece | Greek | COL1a1 | rs1800012 | SUI confirmed with urodynamics and positive pad test, and postmenopausal | Healthy postmenopausal | 45 | 45 |
Skorupski43 | Int Urogynecol J 2009 (IUGA abstract) | Poland | Polish | COL1a1 | rs1800012 | POPQ ≥2 | POPQ <2 and no UI | 120 | 97 |
Skorupski et al46 | Am J Obstet Gynecol 2006 | Poland | Polish | COL1a1 | rs1800012 | SUI confirmed with urodynamics and positive pad test | POPQ <2 and no UI | 50 | 50 |
Skorupski et al61 | Ginekol Polska 2010 | Poland | Polish |
MMP1 MMP3 |
rs1799750 rs3025058 |
POPQ ≥2 | POPQ <2 | 132 | 133 |
Takeda et al36 | ICS Abstract 2002 | Japan | Japanese |
ADRb3 ADRA1A |
rs4994 rs1048101 |
Any LUTS (includes mixed group of women and men) | No LUTS | 27 | 17 |
Velez Edwards et al77 | Am Soc Hum Gen 2013 | United States | African American and Hispanic American |
CPEb Intergenic |
rs28573326 rs113518633 |
POP stage ≥I | POP stage = 0 | 1427 | 1274 |
Vishwajit et al60 | ICS abstract 2009 | United States | Not stated | MMP1 | rs1799750 | SUI with varying POP | Neither SUI nor POP | 40 | 15 |
Wu et al54 | Am J Obstet Gynecol 2012 | United States | Non-Hispanic white | LAMC1 | rs10911193 rs1413390 rs20558 rs20563 rs10911206 rs2296291 rs12041030 rs12739316 rs3768617 rs2483675 rs10911211 rs41475048 rs1058177 rs12073936 |
POPQ ≥3 | POPQ <2 | 239 | 197 |
Wu et al63 | Obstet Gynecol 2012 | United States | Non-Hispanic white | MMP9 | rs3918253 rs3918256 rs3918278 rs17576 rs2274755 rs17577 rs2236416 rs3787268 |
POPQ ≥3 | POPQ <2 | 239 | 197 |
AUA, American Urological Association; ICS, International Continence Society; IUGA, International Urogynecological Association; LUTS, lower urinary tract symptoms; OAB, overactive bladder; POP, pelvic organ prolapse; POPQ, Pelvic Organ Prolapse Quantification system; SNP, single-nucleotide polymorphism; SUI, stress urinary incontinence; UI, urinary incontinence; UUI, urge urinary incontinence.
Cartwright. Genetic association studies of LUTS and POP. Am J Obstet Gynecol 2015.
Assessments of descent/ethnicity/race as specified in primary publications, or from additional data from authors, or assumed for countries with low ethnic heterogeneity including Taiwan, Korea, and Japan
Genome-wide significant genes (P <5 × 10-8) reported in genome-wide association study.