geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Genetic polymorphisms of 17 β-hydroxysteroid dehydrogenase 3 and the risk of hypospadias


, : Genetic polymorphisms of 17 β-hydroxysteroid dehydrogenase 3 and the risk of hypospadias. Journal of Sexual Medicine 7(8): 2729-2738

Hypospadias is a common congenital anomaly caused by incomplete fusion of urethral folds. Development of the urethra and external genital system in the male fetus is an androgen-dependent process. In this regard, enzymes 17 β-hydroxysteroid dehydrogenase type 3 (17 β HSD3, encoded by HSD17B3) and steroid 5 α-reductase type 2 (encoded by SRD5A2) play crucial roles. To investigate the possible associations between common polymorphisms in HSD17B3 as well as well-known V89L polymorphism in SRD5A2 and risk of hypospadias. A case-control study was performed between 1999 and 2005. There were 89 Japanese boys with hypospadias and 291 newborn controls. We genotyped HSD17B3-1999T>C, +10A>G, +20A>G, +139G>A (V31I), +913G>A (G289S), and SRD5A2+336G>C (V89L) polymorphisms by allelic discrimination assay. We measured mRNA expression of the wildtype G289 allele and the mutant S289 allele of the HSD17B3 gene in the transfected human fetal kidney HEK293 cells. Assessment of hypospadias including its severity and HSD17B3 and SRD5A2 genes using DNA blood samples: allele and genotype distribution of single nucleotide polymorphisms in these two genes in cases and controls. In our study, the risk of hypospadias was significantly higher in subjects carrying homozygous HSD17B3+913A (289S) alleles (odds ratio [OR]: 3.06; 95% confidence interval [CI]: 1.38-6.76). The risk of severe hypospadias was much higher in these subjects (OR: 3.93; 95% CI: 1.34-11.49). The mRNA expression levels of HSD17B3 G289 were higher than those of HSD17B3 S289 mutant (P < 0.001). In addition, the risk of severe hypospadias increased in boys carrying the SRD5A2+336C (89L) allele (OR: 3.19; 95% CI: 1.09-9.36). These results suggest that the HSD17B3 G289S polymorphism may be a potential risk modifier for hypospadias. Our findings provide evidence that a certain genotype related to androgen production may potentiate risk of hypospadias.

US$19.90

PMID: 20059664

DOI: 10.1111/j.1743-6109.2009.01641.x


Other references

Schelkun, P.M.; Bellome, J.; Hiatt, W.R.; DeBoom, G.W., 1987: Multiple oral petechiae and ecchymoses in a patient with osteoarthritis. Ibuprofen is a frequently used medication, and possible drug reactions should be familiar to the clinician. Because oral manifestations of thrombocytopenia are often the initial finding and possibly represent the only clinical evidence of this dis...

Schiffmann, R.; Elroy-Stein, O., 2005: Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis. Mutations in eukaryotic initiation factor 2B (eIF2B) cause one of the most common leukodystrophies, childhood ataxia with CNS hypomyelination/vanishing white matter disease or CACH/VWM. Patients may develop a wide spectrum of neurological abnormal...

Petrovich, G.D.; Setlow, B.; Holland, P.C.; Gallagher, M., 2002: Amygdalo-hypothalamic circuit allows learned cues to override satiety and promote eating. Organisms eat not only in a response to signals related to energy balance. Eating also occurs in response to "extrinsic," or environmental, signals, including learned cues. Such cues can modify feeding based on motivational value acquire...

Buck, B., 1992: Slaying myths about workers compensation. California grower 16(9): 42

Thompson, C.S.; Traynor, I.M.; Fodey, T.L.; Crooks, S.R.H.; Kennedy, D.Glenn., 2011: Screening method for the detection of a range of nitrofurans in avian eyes by optical biosensor. An immunobiosensor assay was developed for the multi-residue screening of a range of nitrofuran compounds in avian eyes. A polyclonal antibody which binds at least 5 of the major parent nitrofurans was raised in a rabbit after inoculation with a n...

Christensen, K.; Fogh-Andersen, P., 1994: Etiological subgroups in non-syndromic isolated cleft palate. A genetic-epidemiological study of 52 Danish birth cohorts. Isolated cleft palate (CP) is considered to be a heterogeneous trait with an important genetic contribution to the etiology. Multifactorial-threshold models of non-syndromic CP inheritance assume a female predominance. The present study of 52 Dani...

Chukhrov F.V., 1974: Some problems of origin of deposits in volcanogenic sequences. International Geology Review 16(12): 1394-1405

Weiss, T.; Sens, E.; Teschner, U.; Meissner, W.; Preul, C.; Witte, O.W.; Miltner, W.H.R., 2011: Deafferentation of the affected arm: a method to improve rehabilitation?. Reduced somatosensation is a common impairment after stroke. This somatosensory deficit is known to be a reliable predictor of poor rehabilitation outcome. Several methods of physical therapy have addressed this problem, but with only moderate suc...

Spahn H.; Hale V.; Iwakawa S.; Benet L.Z., 1989: Effects of probenecid on the hepatic elimination of flunoxaprofen. Naunyn-Schmiedeberg's Archives of Pharmacology 339(SUPPL): R7

Van Emon, J.M.; Gerlach, C.L.; Sadik, O.A., 1997: Electrochemical immunosensors for pesticide detection. Abstracts of Papers American Chemical Society 213(1-3): AGRO 46