Hypospadias and genes related to genital tubercle and early urethral development

Carmichael, Suzan L.; Ma, Chen; Choudhry, Shweta; Lammer, Edward J.; Witte, John S.; Shaw, Gary M.

doi:10.1016/j.juro.2013.05.061

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CDC STACKS serves as an archival repository of CDC-published products including scientific findings, journal articles, guidelines, recommendations, or other public health information authored or co-authored by CDC or funded partners. As a repository, CDC STACKS retains documents in their original published format to ensure public access to scientific information.

i

Hypospadias and genes related to genital tubercle and early urethral development

11 2013
By Carmichael, Suzan L. ; Ma, Chen ; Choudhry, Shweta ; ...
http://dx.doi.org/10.1016/j.juro.2013.05.061
Source: J Urol. 190(5):1884-1892

English

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Details:

Alternative Title:

J Urol
Personal Author:

Carmichael, Suzan L. ; Ma, Chen ; Choudhry, Shweta ; Lammer, Edward J. ; Witte, John S. ; ... More +

Carmichael, Suzan L. ; Ma, Chen ; Choudhry, Shweta ; Lammer, Edward J. ; Witte, John S. ; Shaw, Gary M. Less -
Description:

Purpose

We determined whether variants in genes associated with genital tubercle (the anlage for the penis) and early urethral development were associated with hypospadias in humans.

Materials and Methods

We examined 293 relatively common tagSNPs in BMP4, BMP7, FGF8, FGF10, FGFR2, HOXA13, HOXD13, HOXA4, HOXB6, SRY, WT1, WTAP, SHH, GLI1, GLI2, and GLI3. The analysis included 624 cases (81 mild, 319 moderate, 209 severe, 15 undetermined severity) and 844 population-based non-malformed male controls born in California from 1990-2003.

Results

There were 28 SNPs for which any of the comparisons (i.e., overall or for a specific severity) had a p-value <0.01. The homozygous variant genotypes for four SNPs in BMP7 were associated with at least 2-fold increased risk of hypospadias, regardless of severity. Five SNPs for FGF10 were associated with 3- to 4-fold increased risks, regardless of severity; for four of them, results were restricted to whites. For GLI1, GLI2 and GLI3, there were 12 associated SNPs but results were inconsistent by severity and race-ethnicity. For SHH, one SNP was associated with 2.4-fold increased risk of moderate hypospadias. For WT1, six SNPs were associated with approximately 2-fold increased risks, primarily for severe hypospadias.

Conclusions

This study provides evidence that SNPs in several genes that contribute to genital tubercle and early urethral development are associated with hypospadias risk.
Subjects:

[+]

Case-Control Studies Humans Hypospadias Infant, Newborn Male Penis Polymorphism, Single Nucleotide Severity Of Illness Index Urethra
Keywords:

[+]

Genes Genital Tubercle Hypospadias
Source:

J Urol. 190(5):1884-1892
Pubmed ID:

23727413
Pubmed Central ID:

PMC4103581
Document Type:

Journal Article
Funding:

R01 ES017060/ES/NIEHS NIH HHSUnited States/ ; U01 DD000489/DD/NCBDD CDC HHSUnited States/ ; 6U01DD000489/DD/NCBDD CDC HHSUnited States/

R01 ES017060/ES/NIEHS NIH HHSUnited States/ ; U01 DD000489/DD/NCBDD CDC HHSUnited States/ ; 6U01DD000489/DD/NCBDD CDC HHSUnited States/ Less -
Volume:

190
Issue:

5
Collection(s):

CDC Public Access
Main Document Checksum:

[+]

urn:sha256:1b04dbd8ff1513cbd3552eaba226fdaf524ca99e58a63290bf22460b359671ac
Download URL:

https://stacks.cdc.gov/view/cdc/30041/cdc_30041_DS1.pdf
File Type:

[PDF-115.35 KB]

	NIHMS579853-supplement-Supplementary_Table.pdf	pdf
	nihms579853.nxml	xml