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. 2015 Feb;212(2):199.e1–199.e24. doi: 10.1016/j.ajog.2014.08.005

Table 1.

Included studies

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.

a

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

b

Genome-wide significant genes (P <5 × 10-8) reported in genome-wide association study.