Association of common LH variant with hyperfunctional promoter in a Japanese infertile woman

Endocrine Journal

Volumn 52, Issue 6, 2005, Pages 781-784

  Liu, Shunyu ^a   Ogata, Tsutomu ^a   Maruyama, Tetsuo ^b   Yoshimura, Yasunori ^b   Ishizuka, Bunpei ^c  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b KEIO UNIVERSITY   (Japan)

^c ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

LH variant; Ovarian dysfunction; Promoter sequence; Trp8Arg and Ile15Thr

Indexed keywords

CHORIONIC GONADOTROPIN; HORMONE; HUMAN MENOPAUSAL GONADOTROPIN; LUTEINIZING HORMONE;

ADULT; ANAMNESIS; ARTICLE; ARTIFICIAL INSEMINATION; CASE REPORT; CLINICAL FEATURE; ENVIRONMENTAL FACTOR; FEMALE; FEMALE INFERTILITY; HEREDITY; HETEROZYGOTE; HOMOZYGOSITY; HORMONE SUBSTITUTION; HUMAN; JAPAN; LABORATORY TEST; NUCLEOTIDE SEQUENCE; OVARY INSUFFICIENCY; PROMOTER REGION;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA; FEMALE; FOLLICLE STIMULATING HORMONE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; INFERTILITY, FEMALE; LINKAGE (GENETICS); LUTEINIZING HORMONE; MOLECULAR SEQUENCE DATA; PROMOTER REGIONS (GENETICS); VARIATION (GENETICS);

EID: 30844455788     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.52.781     Document Type: Article

References (9)

1. Themmen APN, Huhtaniemi IT (2000) Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocr Rev 21: 551-583.
2. Lamminen T, Huhtaniemi I (2001) A common genetic variant of luteinizing hormone; relation to normal and aberrant pituitary-gonadal function. Eur J Pharmacol 414: 1-7.
3. Furui K, Suganuma N, Tsukahara S, Asada Y, Kikkawa F, Tanaka M, Ozawa T, Tomoda Y (1994) Identification of two point mutations in the gene coding luteinizing hormone (LH) beta-subunit, associated with immunologically anomalous LH variants. J Clin Endocrinol Metab 78: 107-113.
4. Suganuma N, Furui K, Furuhashi M, Asada Y, Kikkawa F, Tomoda Y (1995) Screening of the mutations in luteinizing hormone beta-subunit in patients with menstrual disorders. Fertil Steril 63: 989-995.
5. Takahashi K, Kurioka H, Ozaki T, Kanasaki H, Kohsaka M, Miyazaki K, Karino K (1998) Increased prevalence of luteinizing hormone beta-subunit variant in Japanese infertility patients. Hum Reprod 13: 3338-3344.
6. Takahashi K, Kurioka H, Ozaki T, Kanasaki H, Kohsaka M, Miyazaki K, Karino K (1998) Increased prevalence of luteinizing hormone beta-subunit variant in patients with premature ovarian failure. Fertil Steril 71: 96-101.
7. Jiang M, Pakarinen P, Zhang FP, El-Hefnawy T, Koskimies P, Pettersson K, Huhtaniemi I (1999) A common polymorphic allele of the human luteinizing hormone beta-subunit gene: additional mutations and differential function of the promoter sequence. Hum Mol Genet 8: 2037-2046.
8. Luborsky JL, Meyer P, Sowers MF, Gold EB, Santoro N (2002) Premature menopause in a multi-ethnic population study of the menopause transition. Hum Reprod 18: 199-206.
9. Shiraishi K, Naito K (2003) Fertile eunuch syndrome with the mutations (Trp8Arg and Ile15Thr) in the beta subunit of luteinizing hormone. Endocr J 50: 733-737.