CAPN10 alleles are associated with polycystic ovary syndrome

被引：67

作者：

Gonzalez, A

Abril, E

Roca, A

Aragón, MJ

Figueroa, MJ

Velarde, P

Royo, JL

Real, LM

Ruiz, A

机构：

[1] Inst Med Serman, Ctr Avanzado Fertilidad, Unidad Reprod & Genet Humana, Cadiz 11405, Spain

[2] Hosp Virgen Montanas, Unidad Materno Infantil, Cadiz, Spain

[3] Neocodex, Dept Genom Estruct, Seville, Spain

来源：

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 2002年 / 87卷 / 08期

关键词：

D O I：

10.1210/jc.87.8.3971

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Polycystic ovary syndrome (PCOS) is characterized by chronic anovulation infertility, hyperandrogenemia, and frequently insulin resistance. This study investigated whether polymorphisms in the CAPN10 gene are related with PCOS etiology. The allelic frequencies and genotypes of CAPN10 polymorphisms UCSNP-44,43,19, and 63 were determined in 55 well characterized women with polycystic ovaries and 93 unrelated healthy controls using spectrofluorimetric analyses and real-time PCR. Our data indicate that CAPN10 UCSNP-44 allele is associated with PCOS in the Spanish population (P = 0.01). These results support a role of Calpain 10 gene in PCOS susceptibility in humans.

引用

收藏

页码：3971 / 3976

页数：6

相关论文

共 40 条

[1] Identification of follistatin as a possible trait-causing gene in polycystic ovary syndrome [J].

Asteria, C .

EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2000, 143 (04) :467-469

[2] A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain [J].

Asunción, M ;

Calvo, RM ;

San Millán, JL ;

Sancho, J ;

Avila, S ;

Escobar-Morreale, HF .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2000, 85 (07) :2434-2438

[3] A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance [J].

Baier, LJ ;

Permana, PA ;

Yang, XL ;

Pratley, RE ;

Hanson, RL ;

Shen, GQ ;

Mott, D ;

Knowler, WC ;

Cox, NJ ;

Horikawa, Y ;

Oda, N ;

Bell, GI ;

Bogardus, C .

JOURNAL OF CLINICAL INVESTIGATION, 2000, 106 (07) :R69-R73

[4] POLYCYSTIC OVARIES AND PREMATURE MALE PATTERN BALDNESS ARE ASSOCIATED WITH ONE ALLELE OF THE STEROID-METABOLISM GENE CYP17 [J].

CAREY, AH ;

WATERWORTH, D ;

PATEL, K ;

WHITE, D ;

LITTLE, J ;

NOVELLI, P ;

FRANKS, S ;

WILLIAMSON, R .

HUMAN MOLECULAR GENETICS, 1994, 3 (10) :1873-1876

[5] Insulin-like growth factor binding proteins: Do they play a role in polycystic ovary syndrome? [J].

Cataldo, NA .

SEMINARS IN REPRODUCTIVE ENDOCRINOLOGY, 1997, 15 (02) :123-136

[6] Heritability of insulin secretion and insulin action in women with polycystic ovary syndrome and their first degree relatives [J].

Colilla, S ;

Cox, NJ ;

Ehrmann, DA .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (05) :2027-2031

[7] Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome [J].

Conway, GS ;

Conway, E ;

Walker, C ;

Hoppner, W ;

Gromoll, J ;

Simoni, M .

CLINICAL ENDOCRINOLOGY, 1999, 51 (01) :97-99

[8] Loci on chromosomes 2 (NIDDM1) and 15 interact to increase susceptibility to diabetes in Mexican Americans [J].

Cox, NJ ;

Frigge, M ;

Nicolae, DL ;

Concannon, P ;

Hanis, CL ;

Bell, GI ;

Kong, A .

NATURE GENETICS, 1999, 21 (02) :213-215

[9] Polycystic ovarian disease: heritability and heterogeneity [J].

Crosignani, PG ;

Nicolosi, AE .

HUMAN REPRODUCTION UPDATE, 2001, 7 (01) :3-7

[10] HYPERANDROGENIC ANOVULATION (PCOS) - A UNIQUE DISORDER OF INSULIN ACTION ASSOCIATED WITH AN INCREASED RISK OF NON-INSULIN-DEPENDENT DIABETES-MELLITUS [J].

DUNAIF, A .

AMERICAN JOURNAL OF MEDICINE, 1995, 98 :S33-S39

← 1 2 3 4 →